ヌーナン症候群

小児・神経疾患

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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
single nucleotide variant	NM_005633.4(SOS1):c.1316A>C (p.Gln439Pro)	SOS1	Likely pathogenic	2	39250253	39250253	T	G	criteria provided, single submitter	ClinGen:CA16042458
single nucleotide variant	NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)	SOS1	Likely pathogenic	2	39249915	39249915	T	A	reviewed by expert panel	ClinGen:CA16042455
single nucleotide variant	NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	SOS1	Pathogenic/Likely pathogenic	2	39250259	39250259	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297264
single nucleotide variant	NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)	SOS1	Pathogenic/Likely pathogenic	2	39250139	39250139	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297270,UniProtKB:Q07889#VAR_064505
single nucleotide variant	NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	SOS1	Pathogenic	2	39262581	39262581	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261746,UniProtKB:Q07889#VAR_030426
single nucleotide variant	NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	SOS1	Likely pathogenic	2	39281963	39281963	A	G	reviewed by expert panel	ClinGen:CA261743
single nucleotide variant	NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)	SOS1	Likely pathogenic	2	39285824	39285824	G	C	criteria provided, single submitter	ClinGen:CA261741,UniProtKB:Q07889#VAR_066033
single nucleotide variant	NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)	SOS1	Likely pathogenic	2	39224122	39224122	A	G	criteria provided, single submitter	ClinGen:CA261736
single nucleotide variant	NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SOS1	Pathogenic/Likely pathogenic	2	39250259	39250259	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261719,UniProtKB:Q07889#VAR_066042
single nucleotide variant	NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)	SOS1	Pathogenic/Likely pathogenic	2	39251221	39251221	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261714,UniProtKB:Q07889#VAR_066036