HDAC11[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 148551	GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4	FBLN2, HDAC11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 2377707	NM_024827.4(HDAC11):c.41C>T (p.Thr14Ile)	HDAC11 (T14I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2273193	NM_024827.4(HDAC11):c.50C>A (p.Pro17Gln)	HDAC11 (P17Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492850	NM_024827.4(HDAC11):c.128G>A (p.Gly43Asp)	HDAC11 (G43D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283675	NM_024827.4(HDAC11):c.301C>T (p.Leu101Phe)	HDAC11 (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283680	NM_024827.4(HDAC11):c.409G>A (p.Val137Met)	HDAC11 (V137M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104567	NM_024827.4(HDAC11):c.466G>T (p.Ala156Ser)	HDAC11 (A156S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596987	NM_024827.4(HDAC11):c.502C>T (p.Arg168Cys)	HDAC11 (R117C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254751	NM_024827.4(HDAC11):c.598A>G (p.Ile200Val)	HDAC11 (I149V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552889	NM_024827.4(HDAC11):c.638G>T (p.Arg213Leu)	HDAC11 (R134L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411119	NM_024827.4(HDAC11):c.661C>T (p.Arg221Trp)	HDAC11 (R142W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104568	NM_024827.4(HDAC11):c.662G>A (p.Arg221Gln)	HDAC11 (R221Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104569	NM_024827.4(HDAC11):c.678G>T (p.Glu226Asp)	HDAC11 (E175D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283677	NM_024827.4(HDAC11):c.746A>G (p.His249Arg)	HDAC11 (H170R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104570	NM_024827.4(HDAC11):c.877C>T (p.Arg293Trp)	HDAC11 (R214W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283679	NM_024827.4(HDAC11):c.878G>A (p.Arg293Gln)	HDAC11 (R214Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349628	NM_024827.4(HDAC11):c.907G>A (p.Gly303Arg)	HDAC11 (G303R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518021	NM_024827.4(HDAC11):c.974T>C (p.Ile325Thr)	HDAC11 (I246T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104571	NM_024827.4(HDAC11):c.988C>G (p.Pro330Ala)	HDAC11 (P251A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398191	NM_024827.4(HDAC11):c.994G>A (p.Val332Ile)	HDAC11 (V253I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341302	NM_024827.4(HDAC11):c.1007A>G (p.Asn336Ser)	HDAC11 (N257S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283676	NM_024827.4(HDAC11):c.1019C>T (p.Pro340Leu)	HDAC11 (P261L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744743	NM_024827.4(HDAC11):c.1028C>A (p.Pro343His)	HDAC11 (P264H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 980630	GRCh37/hg19 3p25.2-25.1(chr3:13265679-13692435)x3	HDAC11, NUP210 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 44