ClinVar for MedGen (Select 338875) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286948	NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn)	SMARCAD1 (S246N +1 more)	Single nucleotide variant (missense variant +1 more)	Basan syndrome +3 more	GBenign
Select item 1259682	NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Adermatoglyphia +3 more	GBenign
Select item 1236001	NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=)	SMARCAD1	Single nucleotide variant (synonymous variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 1220932	NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala)	SMARCAD1 (V300A +1 more)	Single nucleotide variant (missense variant +1 more)	Keratoderma with scleroatrophy of the extremities +3 more	GBenign
Select item 976343	NM_020159.5(SMARCAD1):c.2263T>C (p.Phe755Leu)	SMARCAD1 (F325L +3 more)	Single nucleotide variant (missense variant +1 more)	Adermatoglyphia	GPathogenic
Select item 187778	NM_020159.5(SMARCAD1):c.1281+669G>C	SMARCAD1	Single nucleotide variant (intron variant)	Adermatoglyphia	GPathogenic
Select item 187777	NM_020159.5(SMARCAD1):c.1281+666T>C	SMARCAD1	Single nucleotide variant (intron variant +1 more)	Keratoderma with scleroatrophy of the extremities +1 more	GPathogenic
Select item 187776	NM_020159.5(SMARCAD1):c.1281+665G>A	SMARCAD1	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 30981	NM_020159.5(SMARCAD1):c.1281+665G>T	SMARCAD1	Single nucleotide variant (intron variant +1 more)	Basan syndrome +1 more	GPathogenic