26726[HGNC] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2555135	NM_152477.5(ZNF565):c.1457T>A (p.Leu486His)	ZNF565 (L486H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399455	NM_152477.5(ZNF565):c.1412G>A (p.Gly471Asp)	ZNF565 (G406D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569634	NM_152477.5(ZNF565):c.1384C>G (p.Leu462Val)	ZNF565 (L462V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593900	NM_152477.5(ZNF565):c.1289G>A (p.Arg430His)	ZNF565 (R365H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461371	NM_152477.5(ZNF565):c.1189G>A (p.Gly397Arg)	ZNF565 (G332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300860	NM_152477.5(ZNF565):c.1169C>A (p.Pro390His)	ZNF565 (P325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361161	NM_152477.5(ZNF565):c.1006G>A (p.Glu336Lys)	ZNF565 (E336K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222887	NM_152477.5(ZNF565):c.980G>A (p.Arg327Gln)	ZNF565 (R327Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483625	NM_152477.5(ZNF565):c.869G>A (p.Arg290His)	ZNF565 (R225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337145	NM_152477.5(ZNF565):c.838G>A (p.Val280Ile)	ZNF565 (V215I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345413	NM_152477.5(ZNF565):c.826G>A (p.Glu276Lys)	ZNF565 (E211K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392639	NM_152477.5(ZNF565):c.806A>T (p.His269Leu)	ZNF565 (H204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362347	NM_152477.5(ZNF565):c.701G>A (p.Arg234His)	ZNF565 (R169H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542487	NM_152477.5(ZNF565):c.590G>T (p.Cys197Phe)	ZNF565 (C132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196769	NM_152477.5(ZNF565):c.536G>A (p.Gly179Asp)	ZNF565 (G179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362404	NM_152477.5(ZNF565):c.478A>G (p.Arg160Gly)	ZNF565 (R95G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196768	NM_152477.5(ZNF565):c.470G>A (p.Arg157His)	ZNF565 (R157H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461831	NM_152477.5(ZNF565):c.455C>T (p.Thr152Met)	ZNF565 (T87M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216713	NM_152477.5(ZNF565):c.413T>C (p.Val138Ala)	ZNF565 (V138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280784	NM_152477.5(ZNF565):c.391G>A (p.Glu131Lys)	ZNF565 (E131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249692	NM_152477.5(ZNF565):c.347G>C (p.Arg116Thr)	ZNF565 (R116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347710	NM_152477.5(ZNF565):c.335G>A (p.Gly112Asp)	ZNF565 (G112D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196767	NM_152477.5(ZNF565):c.323G>A (p.Ser108Asn)	ZNF565 (S43N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218123	NM_152477.5(ZNF565):c.283G>A (p.Gly95Arg)	ZNF565 (G95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379909	NM_152477.5(ZNF565):c.163G>A (p.Val55Ile)	ZNF565 (V55I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3196766	NM_152477.5(ZNF565):c.131C>T (p.Ser44Leu)	ZNF565 (S44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196771	NM_152477.5(ZNF565):c.99G>C (p.Glu33Asp)	ZNF565 (E33D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329146	NM_152477.5(ZNF565):c.39A>G (p.Ile13Met)	ZNF565 (I13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334990	NM_007145.3(ZNF146):c.343C>T (p.Leu115Phe)	ZNF146, ZNF565 (L115F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194090	NM_007145.3(ZNF146):c.471A>T (p.Lys157Asn)	ZNF146, ZNF565 (K157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194091	NM_007145.3(ZNF146):c.778A>G (p.Arg260Gly)	ZNF146, ZNF565 (R260G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062394	GRCh37/hg19 19q13.12(chr19:36690951-36728307)x1	ZNF146, ZNF565	Copy number loss	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2685635	GRCh37/hg19 19q13.12(chr19:36665097-36739067)x1	ZNF146, ZNF565	Copy number loss	not provided	GUncertain significance
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 50