ロイス・ディーツ症候群

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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
Deletion	NC_000015.10:g.(?_67186987)_(67187509_?)del	SMAD3	Pathogenic	15	67479325	67479847	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr)	TGFBR1	Likely pathogenic	9	101904872	101904872	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)	SMAD3	Pathogenic/Likely pathogenic	15	67473674	67473674	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)	TGFBR2	Likely pathogenic	3	30713432	30713432	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003239.5(TGFB3):c.755-1G>C	TGFB3	Likely pathogenic	14	76429831	76429831	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)	SMAD3	Likely pathogenic	15	67473656	67473657	G	GAGAC	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)	SMAD3	Likely pathogenic	15	67473768	67473768	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)	SMAD3	Likely pathogenic	15	67473771	67473771	A	G	criteria provided, single submitter	-
Deletion	NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)	TGFBR2	Likely pathogenic	3	30729925	30729926	CCT	C	criteria provided, single submitter	-