"Ambry Genetics"[submitter] AND "HDAC6"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2491617	NM_006044.4(HDAC6):c.47G>A (p.Ser16Asn)	HDAC6 (S16N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356503	NM_006044.4(HDAC6):c.51G>C (p.Arg17Ser)	HDAC6 (R17S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476376	NM_006044.4(HDAC6):c.148G>A (p.Val50Ile)	HDAC6 (V64I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328305	NM_006044.4(HDAC6):c.176T>C (p.Leu59Pro)	HDAC6 (L59P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456019	NM_006044.4(HDAC6):c.401G>A (p.Arg134Gln)	HDAC6 (R134Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104624	NM_006044.4(HDAC6):c.763C>T (p.His255Tyr)	HDAC6 (H255Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302991	NM_006044.4(HDAC6):c.1111A>G (p.Met371Val)	HDAC6 (M385V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104613	NM_006044.4(HDAC6):c.1186A>G (p.Ser396Gly)	HDAC6 (S396G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104614	NM_006044.4(HDAC6):c.1250G>A (p.Cys417Tyr)	HDAC6 (C417Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287519	NM_006044.4(HDAC6):c.1253G>A (p.Arg418Gln)	HDAC6 (R418Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104615	NM_006044.4(HDAC6):c.1333G>A (p.Val445Met)	HDAC6 (V445M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510020	NM_006044.4(HDAC6):c.1525C>T (p.Arg509Trp)	HDAC6 (R509W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287438	NM_006044.4(HDAC6):c.1986T>A (p.Asp662Glu)	HDAC6 (D676E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104616	NM_006044.4(HDAC6):c.2045T>C (p.Met682Thr)	HDAC6 (M696T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274208	NM_006044.4(HDAC6):c.2474A>G (p.Gln825Arg)	HDAC6 (Q825R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104617	NM_006044.4(HDAC6):c.2483G>A (p.Arg828His)	HDAC6 (R842H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104618	NM_006044.4(HDAC6):c.2494C>T (p.Arg832Cys)	HDAC6 (R846C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104619	NM_006044.4(HDAC6):c.2533C>G (p.Pro845Ala)	HDAC6 (P845A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1161964	NM_006044.4(HDAC6):c.2596C>T (p.Arg866Trp)	HDAC6 (R866W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3104620	NM_006044.4(HDAC6):c.2828T>G (p.Val943Gly)	HDAC6 (V943G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268938	NM_006044.4(HDAC6):c.2894C>T (p.Thr965Ile)	HDAC6 (T965I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104621	NM_006044.4(HDAC6):c.3113A>G (p.Gln1038Arg)	HDAC6 (Q1052R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 445380	NM_006044.4(HDAC6):c.3132A>G (p.Ile1044Met)	HDAC6 (I1044M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2284227	NM_006044.4(HDAC6):c.3145C>G (p.Leu1049Val)	HDAC6 (L1063V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 733236	NM_006044.4(HDAC6):c.3155G>A (p.Ser1052Asn)	HDAC6 (S1066N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2551305	NM_006044.4(HDAC6):c.3193G>A (p.Ala1065Thr)	HDAC6 (A1079T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279834	NM_006044.4(HDAC6):c.3217G>A (p.Glu1073Lys)	HDAC6 (E1073K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221922	NM_006044.4(HDAC6):c.3266C>G (p.Ser1089Trp)	HDAC6 (S1089W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104622	NM_006044.4(HDAC6):c.3310T>C (p.Phe1104Leu)	HDAC6 (F1104L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104623	NM_006044.4(HDAC6):c.3476G>A (p.Gly1159Asp)	HDAC6 (G1173D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407538	NM_006044.4(HDAC6):c.3529A>G (p.Ile1177Val)	HDAC6 (I1191V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2237838	NM_006044.4(HDAC6):c.3529A>T (p.Ile1177Phe)	HDAC6 (I1191F +1 more)	Single nucleotide variant (missense variant +1 more)	HDAC6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2473618	NM_006044.4(HDAC6):c.3625G>A (p.Glu1209Lys)	HDAC6 (E1223K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33