ClinVar (all) for Orgtrack (Select 500109) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139666	NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs)	NOTCH1 (R1761fs)	Deletion (frameshift variant)	Heart, malformation of	GLikely pathogenic
Select item 139665	NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His)	NOTCH1 (Q1687H)	Single nucleotide variant (missense variant)	Heart, malformation of	GLikely pathogenic
Select item 139664	NM_017617.5(NOTCH1):c.2014+1G>A	NOTCH1	Single nucleotide variant (splice donor variant)	Heart, malformation of	GLikely pathogenic
Select item 139663	NM_002471.4(MYH6):c.2033A>G (p.Asn678Ser)	MYH6 (N678S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139662	NM_181486.4(TBX5):c.301A>T (p.Ile101Phe)	TBX5 (I101F +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of	GLikely pathogenic
Select item 55874	NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)	NR0B1 (R425I)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 55867	NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)	FGFR2 (P138F +3 more)	Indel (missense variant +2 more)	Acrocephalosyndactyly type I	GPathogenic
Select item 7995	NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)	TBX5 (R237W +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GPathogenic

ClinVar