HDDC2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148091	GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)x1	CLVS2, FABP7 +75 more	Copy number loss	See cases	GUncertain significance
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 2371469	NM_016063.3(HDDC2):c.542T>C (p.Val181Ala)	HDDC2 (V181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104674	NM_016063.3(HDDC2):c.527A>G (p.Asn176Ser)	HDDC2 (N176S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387653	NM_016063.3(HDDC2):c.512C>T (p.Thr171Ile)	HDDC2 (T171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232179	NM_016063.3(HDDC2):c.503A>G (p.Tyr168Cys)	HDDC2 (Y168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537368	NM_016063.3(HDDC2):c.493C>A (p.Gln165Lys)	HDDC2 (Q165K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104671	NM_016063.3(HDDC2):c.383A>G (p.Tyr128Cys)	HDDC2 (Y128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104670	NM_016063.3(HDDC2):c.365A>G (p.Tyr122Cys)	HDDC2 (Y122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543793	NM_016063.3(HDDC2):c.296A>G (p.His99Arg)	HDDC2 (H99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104669	NM_016063.3(HDDC2):c.272A>T (p.Asp91Val)	HDDC2 (D91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104668	NM_016063.3(HDDC2):c.214C>T (p.Arg72Cys)	HDDC2 (R72C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104667	NM_016063.3(HDDC2):c.198C>A (p.Asn66Lys)	HDDC2 (N66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318999	NM_016063.3(HDDC2):c.182A>G (p.Lys61Arg)	HDDC2 (K61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104666	NM_016063.3(HDDC2):c.172A>G (p.Met58Val)	HDDC2 (M58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223382	NM_016063.3(HDDC2):c.154C>T (p.Arg52Trp)	HDDC2 (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590627	NM_016063.3(HDDC2):c.146A>G (p.His49Arg)	HDDC2 (H49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104665	NM_016063.3(HDDC2):c.139T>C (p.Ser47Pro)	HDDC2 (S47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479670	NM_016063.3(HDDC2):c.47C>T (p.Ser16Phe)	HDDC2, LOC129997099 (S16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104672	NM_016063.3(HDDC2):c.43C>G (p.Arg15Gly)	HDDC2, LOC129997099 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685214	GRCh37/hg19 6q22.31(chr6:123554219-125882578)x1	HDDC2, NKAIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1808088	GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1	ARHGAP18, C6orf58 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1527284	GRCh37/hg19 6q22.31-22.33(chr6:122839432-128801386)	C6orf58, CENPW +21 more	Copy number loss	not specified	GPathogenic
Select item 1340790	GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1	C6orf58, CENPW +17 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 41