糖原病II型 (ポンペ病)

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)	GAA	Pathogenic	17	78084773	78084773	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	GAA	Pathogenic	17	78082511	78082511	G	A	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)	GAA	Pathogenic	17	78081616	78081616	C	G	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.1195-19_2190-17del	GAA	Pathogenic	17	78082476	78090749	GGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAAGGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTCGCCCGGCCCTGGCTCCTCTCCAGGCAGGCGTGTGCAGGCATGTGCAGGTACACAGGCAGGCATGCTGTACACACGCATGATGTCATCCCCAGCCTCATCCTCTCACTGTCTCAGTTTTCCCCGTGGCTGGCGCCAGGGCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCCTCCAGGCAGGGCCCCCGCTGAGGGAGCAGCTAGGGAGGGTCTGGTGCGGATGTGAGGCTGCCTGGCAGGGCTTGCACGGGGCCGTCTCCGCTGCCCTTCTCCCTGACGCTCTCTGGTTCTGCAGCCCAGCCCCTGGGTGGACGTGTTGGGGGTGACCCCTCGTTTTCCCAGGGTTGAGGCCCCTTGGCCCCGCATCAGTGCCTTGTGGAGAAAGAGCTGCTCATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGT	G	criteria provided, single submitter	-
Deletion	NM_000152.5(GAA):c.148_859-11del	GAA	Pathogenic	17	78078528	78081583	GTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTC	G	criteria provided, single submitter	-
Indel	NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)	GAA	Pathogenic	17	78086737	78086738	GG	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.1952del (p.Gly651fs)	GAA	Pathogenic	17	78086736	78086736	TG	T	reviewed by expert panel	-
single nucleotide variant	NM_000152.5(GAA):c.1326+1G>A	GAA	Pathogenic	17	78082628	78082628	G	A	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.2655_2656del (p.Val886fs)	GAA	Pathogenic	17	78092460	78092461	TCG	T	reviewed by expert panel	-
Deletion	NM_000152.5(GAA):c.482_483del (p.Pro161fs)	GAA	Pathogenic	17	78078865	78078866	TCC	T	reviewed by expert panel	-