"Ambry Genetics"[submitter] AND "C1QB"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1493957	NM_001378156.1(C1QB):c.25C>T (p.Pro9Ser)	C1QB (P9S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1020369	NM_001378156.1(C1QB):c.61G>A (p.Asp21Asn)	C1QB (D21N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491412	NM_001378156.1(C1QB):c.323A>G (p.Lys108Arg)	C1QB (K108R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1036020	NM_001378156.1(C1QB):c.332C>T (p.Ser111Leu)	C1QB (S111L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2231190	NM_001378156.1(C1QB):c.358A>G (p.Ile120Val)	C1QB (I122V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249605	NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)	C1QB (A126D +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency +1 more	GUncertain significance
Select item 2337023	NM_001378156.1(C1QB):c.398G>A (p.Arg133His)	C1QB (R133H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1430245	NM_001378156.1(C1QB):c.401G>A (p.Arg134Gln)	C1QB (R134Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277520	NM_001378156.1(C1QB):c.424C>T (p.His142Tyr)	C1QB (H144Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance