H1-2[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103508	NM_005319.4(H1-2):c.623C>T (p.Ala208Val)	H1-2 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510737	NM_005319.4(H1-2):c.614C>T (p.Pro205Leu)	H1-2 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103505	NM_005319.4(H1-2):c.613C>G (p.Pro205Ala)	H1-2 (P205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103504	NM_005319.4(H1-2):c.604G>C (p.Val202Leu)	H1-2 (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103503	NM_005319.4(H1-2):c.601A>C (p.Lys201Gln)	H1-2 (K201Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471003	NM_005319.4(H1-2):c.584C>T (p.Pro195Leu)	H1-2 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103502	NM_005319.4(H1-2):c.583C>T (p.Pro195Ser)	H1-2 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103501	NM_005319.4(H1-2):c.574G>C (p.Ala192Pro)	H1-2 (A192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103500	NM_005319.4(H1-2):c.566C>T (p.Ala189Val)	H1-2 (A189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103499	NM_005319.4(H1-2):c.563G>A (p.Ser188Asn)	H1-2 (S188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283256	NM_005319.4(H1-2):c.550A>C (p.Lys184Gln)	H1-2 (K184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103498	NM_005319.4(H1-2):c.544C>T (p.Pro182Ser)	H1-2 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477864	NM_005319.4(H1-2):c.539C>G (p.Ala180Gly)	H1-2 (A180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588166	NM_005319.4(H1-2):c.518G>T (p.Ser173Ile)	H1-2 (S173I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283258	NM_005319.4(H1-2):c.517A>C (p.Ser173Arg)	H1-2 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103496	NM_005319.4(H1-2):c.511G>C (p.Ala171Pro)	H1-2 (A171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283251	NM_005319.4(H1-2):c.505A>C (p.Lys169Gln)	H1-2 (K169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103495	NM_005319.4(H1-2):c.504G>T (p.Lys168Asn)	H1-2 (K168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103494	NM_005319.4(H1-2):c.494C>T (p.Thr165Ile)	H1-2 (T165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568686	NM_005319.4(H1-2):c.468G>C (p.Lys156Asn)	H1-2 (K156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103493	NM_005319.4(H1-2):c.464C>T (p.Pro155Leu)	H1-2 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103492	NM_005319.4(H1-2):c.463C>T (p.Pro155Ser)	H1-2 (P155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103491	NM_005319.4(H1-2):c.459A>C (p.Lys153Asn)	H1-2 (K153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509406	NM_005319.4(H1-2):c.394G>A (p.Val132Ile)	H1-2 (V132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283259	NM_005319.4(H1-2):c.382C>G (p.Pro128Ala)	H1-2 (P128A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103484	NM_005319.4(H1-2):c.341G>C (p.Gly114Ala)	H1-2 (G114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103483	NM_005319.4(H1-2):c.335C>T (p.Ala112Val)	H1-2 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27