C4746970[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439327	NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)	ATP11C (Q1059E +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439326	NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)	ATP11C (I1021M +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2688637	NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)	ATP11C (T1019M +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2688633	NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)	ATP11C (I1001V +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439335	NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)	ATP11C (P901L +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439334	NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)	ATP11C (S848F +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439328	NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)	ATP11C (V785L +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439333	NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)	ATP11C (I720R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2688636	NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)	ATP11C (I705T +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2688631	NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)	ATP11C (L559V +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2688634	NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)	ATP11C (Q525R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2240915	NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)	ATP11C (Y519N +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia +1 more	GUncertain significance
Select item 2688632	NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)	ATP11C (I422T +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439330	NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)	ATP11C (E387D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2359667	NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)	ATP11C (K367R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2439332	NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)	ATP11C (R332Q +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2439331	NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)	ATP11C (N118fs +1 more)	Deletion (frameshift variant)	X-linked congenital hemolytic anemia	GUncertain significance
Select item 2688635	NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)	ATP11C (R39K +1 more)	Single nucleotide variant (missense variant)	X-linked congenital hemolytic anemia	GUncertain significance