"Ambry Genetics"[submitter] AND "ABCD4"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228673	NM_005050.4(ABCD4):c.1756C>G (p.His586Asp)	ABCD4 (H448D +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2218540	NM_005050.4(ABCD4):c.1740G>C (p.Gln580His)	ABCD4 (Q421H +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2145781	NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)	ABCD4 (G303S +8 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1197229	NM_005050.4(ABCD4):c.1688A>G (p.Tyr563Cys)	ABCD4 (Y300C +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2289890	NM_005050.4(ABCD4):c.1633G>T (p.Ala545Ser)	ABCD4 (A282S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 424218	NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	ABCD4 (D489N +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GConflicting classifications of pathogenicity
Select item 2559417	NM_005050.4(ABCD4):c.1367T>C (p.Val456Ala)	ABCD4 (V369A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1008655	NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)	ABCD4 (R179Q +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 2258188	NM_005050.4(ABCD4):c.1316C>G (p.Thr439Arg)	ABCD4 (T335R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 932674	NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)	ABCD4 (T284M +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GConflicting classifications of pathogenicity
Select item 2278591	NM_005050.4(ABCD4):c.1290G>C (p.Leu430Phe)	ABCD4 (L275F +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 285659	NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)	ABCD4 (E413K +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1378884	NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)	ABCD4 (R391Q +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 1087439	NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)	ABCD4 (T174M +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2142681	NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)	ABCD4 (Y211C +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2606645	NM_005050.4(ABCD4):c.792G>A (p.Met264Ile)	ABCD4 (M221I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1513617	NM_005050.4(ABCD4):c.719+6T>C	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 2334111	NM_005050.4(ABCD4):c.595G>T (p.Val199Leu)	ABCD4 (V40L +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 646672	NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)	ABCD4 (S102G +3 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 1946809	NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)	ABCD4 (L171F +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2485547	NM_005050.4(ABCD4):c.433C>T (p.Arg145Cys)	ABCD4 (R102C +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2086078	NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)	ABCD4 (R84C +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2323648	NM_005050.4(ABCD4):c.376G>C (p.Gly126Arg)	ABCD4 (G126R +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2309677	NM_005050.4(ABCD4):c.372C>G (p.Phe124Leu)	ABCD4 (F124L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2482146	NM_005050.4(ABCD4):c.353A>T (p.His118Leu)	ABCD4 (H31L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2394642	NM_005050.4(ABCD4):c.325G>A (p.Val109Met)	ABCD4 (V66M +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2550318	NM_005050.4(ABCD4):c.179T>C (p.Val60Ala)	ABCD4 (V60A)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 372930	NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)	ABCD4 (L47F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2236845	NM_005050.4(ABCD4):c.8T>G (p.Val3Gly)	ABCD4 (V3G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 29