C1863878[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375766	NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys)	SMCHD1 (S135C)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375768	NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile)	SMCHD1 (S135I)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375767	NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn)	SMCHD1 (S135N)	Single nucleotide variant (missense variant)	SMCHD1-related condition	GPathogenic
Select item 375764	NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	SMCHD1 (E136D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 375765	NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	SMCHD1 (G137E)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GPathogenic
Select item 375762	NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe)	SMCHD1 (L141F)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375760	NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)	SMCHD1 (Q345R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 375761	NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg)	SMCHD1 (H348R)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375763	NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)	SMCHD1 (Q400L)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +2 more	GPathogenic