"Ambry Genetics"[submitter] AND "C1orf105"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357809	NM_153747.2(PIGC):c.865A>C (p.Lys289Gln)	C1orf105, PIGC (K289Q)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2483690	NM_153747.2(PIGC):c.850G>A (p.Asp284Asn)	C1orf105, PIGC (D284N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2063404	NM_153747.2(PIGC):c.557C>G (p.Ser186Cys)	C1orf105, PIGC (S186C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511713	NM_153747.2(PIGC):c.445A>G (p.Ile149Val)	PIGC, C1orf105 (I149V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2278798	NM_153747.2(PIGC):c.325C>T (p.Arg109Trp)	C1orf105, PIGC (R109W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341208	NM_153747.2(PIGC):c.275C>A (p.Ser92Tyr)	PIGC, C1orf105 (S92Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404624	NM_153747.2(PIGC):c.91C>T (p.Arg31Trp)	C1orf105, PIGC (R31W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537062	NM_153747.2(PIGC):c.83A>G (p.Tyr28Cys)	C1orf105, PIGC (Y28C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235607	NM_153747.2(PIGC):c.70T>C (p.Phe24Leu)	PIGC, C1orf105 (F24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234406	NM_139240.4(C1orf105):c.145A>G (p.Lys49Glu)	C1orf105 (K49E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance