ClinVar for Gene (Select 10013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344407	NM_006044.4(HDAC6):c.3407G>A (p.Cys1136Tyr)	HDAC6 (C1136Y +1 more)	Single nucleotide variant (missense variant +1 more)	HDAC6-related disorder	GUncertain significance
Select item 3338200	NM_006044.4(HDAC6):c.908A>G (p.Tyr303Cys)	HDAC6 (Y303C +1 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3336251	NM_006044.4(HDAC6):c.2768C>T (p.Thr923Ile)	HDAC6 (T923I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283703	NM_006044.4(HDAC6):c.3368C>G (p.Pro1123Arg)	HDAC6 (P1137R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283702	NM_006044.4(HDAC6):c.2752G>A (p.Ala918Thr)	HDAC6 (A932T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250831	NM_006044.4(HDAC6):c.1670G>A (p.Arg557Gln)	HDAC6 (R557Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3248614	NM_006044.4(HDAC6):c.206_209del (p.Val69fs)	HDAC6 (V69fs +1 more)	Deletion (frameshift variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GPathogenic
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 3069053	NM_006044.4(HDAC6):c.681G>C (p.Met227Ile)	HDAC6 (M227I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3057132	NM_006044.4(HDAC6):c.999+9G>A	HDAC6	Single nucleotide variant (non-coding transcript variant +1 more)	HDAC6-related disorder	GLikely benign
Select item 3055312	NM_006044.4(HDAC6):c.2495G>A (p.Arg832His)	HDAC6 (R832H +1 more)	Single nucleotide variant (missense variant +1 more)	HDAC6-related disorder	GBenign
Select item 3054797	NM_006044.4(HDAC6):c.807-2dup	HDAC6	Duplication (splice acceptor variant)	HDAC6-related disorder	GLikely benign
Select item 3045308	NM_006044.4(HDAC6):c.3531C>T (p.Ile1177=)	HDAC6	Single nucleotide variant (synonymous variant +1 more)	HDAC6-related disorder	GLikely benign
Select item 3036827	NM_006044.4(HDAC6):c.632+8T>G	HDAC6	Single nucleotide variant (3 prime UTR variant +2 more)	HDAC6-related disorder	GLikely benign
Select item 3026086	NM_006044.4(HDAC6):c.3100A>G (p.Thr1034Ala)	HDAC6 (T1034A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2673230	NM_006044.4(HDAC6):c.-1_11del (p.Met1_Thr4del)	HDAC6, LOC130068250	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2660477	NM_006044.4(HDAC6):c.3214G>C (p.Gly1072Arg)	HDAC6 (G1072R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660476	NM_006044.4(HDAC6):c.3172C>T (p.Leu1058=)	HDAC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660475	NM_006044.4(HDAC6):c.3070G>C (p.Ala1024Pro)	HDAC6 (A1024P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660474	NM_006044.4(HDAC6):c.2830G>A (p.Gly944Arg)	HDAC6 (G944R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660473	NM_006044.4(HDAC6):c.2597G>A (p.Arg866Gln)	HDAC6 (R866Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660472	NM_006044.4(HDAC6):c.1679A>G (p.His560Arg)	HDAC6 (H560R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660471	NM_006044.4(HDAC6):c.1117C>G (p.Leu373Val)	HDAC6 (L373V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660470	NM_006044.4(HDAC6):c.318G>A (p.Pro106=)	HDAC6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2660469	NM_006044.4(HDAC6):c.117C>T (p.Ala39=)	HDAC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660468	NM_006044.4(HDAC6):c.92C>G (p.Ser31Trp)	HDAC6 (S31W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2573116	NM_006044.4(HDAC6):c.1894C>T (p.His632Tyr)	HDAC6 (H632Y +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GLikely pathogenic
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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2503100	NM_006044.4(HDAC6):c.1121C>G (p.Ala374Gly)	HDAC6 (A374G +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance
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 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 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
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 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCDC120, CCDC22 +60 more	Duplication	SLC35A2-congenital disorder of glycosylation +4 more	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 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 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 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 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 2284227	NM_006044.4(HDAC6):c.3145C>G (p.Leu1049Val)	HDAC6 (L1063V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 2237838	NM_006044.4(HDAC6):c.3529A>T (p.Ile1177Phe)	HDAC6 (I1191F +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 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
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 1300004	NM_006044.4(HDAC6):c.3097C>G (p.Pro1033Ala)	HDAC6 (P1033A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1249162	NM_006044.4(HDAC6):c.2187+20G>A	HDAC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1206265	NM_006044.4(HDAC6):c.475A>C (p.Met159Leu)	HDAC6 (M159L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1161964	NM_006044.4(HDAC6):c.2596C>T (p.Arg866Trp)	HDAC6 (R866W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1050458	NM_006044.4(HDAC6):c.218G>C (p.Gly73Ala)	HDAC6 (G73A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1049411	NM_006044.4(HDAC6):c.876G>T (p.Trp292Cys)	HDAC6 (W292C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1032399	NM_006044.4(HDAC6):c.3190G>A (p.Gly1064Arg)	HDAC6 (G1078R +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 931626	NM_006044.4(HDAC6):c.2090C>T (p.Thr697Ile)	HDAC6 (T697I +1 more)	Single nucleotide variant (missense variant)	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	GUncertain significance
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 795209	NM_006044.4(HDAC6):c.1332C>G (p.Thr444=)	HDAC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788323	NM_006044.4(HDAC6):c.591G>A (p.Ala197=)	HDAC6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 771225	NM_006044.4(HDAC6):c.2786T>C (p.Ile929Thr)	HDAC6 (I943T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

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