ClinVar for Gene (Select 199704) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258799	NM_001288800.2(ZNF585A):c.266G>C (p.Gly89Ala)	ZNF585A (G89A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258798	NM_001288800.2(ZNF585A):c.1574A>G (p.Asn525Ser)	ZNF585A (N525S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258797	NM_001288800.2(ZNF585A):c.1321G>C (p.Gly441Arg)	ZNF585A (G441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258795	NM_001288800.2(ZNF585A):c.2215A>G (p.Thr739Ala)	ZNF585A (T684A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258794	NM_001288800.2(ZNF585A):c.878C>G (p.Thr293Ser)	ZNF585A (T293S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196956	NM_001288800.2(ZNF585A):c.952C>T (p.Arg318Cys)	ZNF585A (R263C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196955	NM_001288800.2(ZNF585A):c.2287G>A (p.Val763Ile)	ZNF585A (V763I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196954	NM_001288800.2(ZNF585A):c.2117A>G (p.Gln706Arg)	ZNF585A (Q651R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196953	NM_001288800.2(ZNF585A):c.1924G>A (p.Ala642Thr)	ZNF585A (A587T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196952	NM_001288800.2(ZNF585A):c.1613A>G (p.Asn538Ser)	ZNF585A (N483S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196951	NM_001288800.2(ZNF585A):c.1549A>G (p.Thr517Ala)	ZNF585A (T517A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196950	NM_001288800.2(ZNF585A):c.1343C>T (p.Thr448Ile)	ZNF585A (T393I +1 more)	Single nucleotide variant (missense variant)	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 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2649768	NM_001288800.2(ZNF585A):c.2286C>T (p.Ser762=)	ZNF585A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602471	NM_001288800.2(ZNF585A):c.1331G>A (p.Gly444Glu)	ZNF585A (G389E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599892	NM_001288800.2(ZNF585A):c.1399A>G (p.Met467Val)	ZNF585A (M467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557608	NM_001288800.2(ZNF585A):c.1309C>T (p.Pro437Ser)	ZNF585A (P382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546250	NM_001288800.2(ZNF585A):c.1502A>G (p.Lys501Arg)	ZNF585A (K446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537865	NM_001288800.2(ZNF585A):c.1174A>C (p.Thr392Pro)	ZNF585A (T337P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528578	NM_001288800.2(ZNF585A):c.1765C>T (p.Arg589Cys)	ZNF585A (R589C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527200	NM_001288800.2(ZNF585A):c.1145A>G (p.Tyr382Cys)	ZNF585A (Y327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516940	NM_001288800.2(ZNF585A):c.397G>A (p.Ala133Thr)	ZNF585A (A133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509758	NM_001288800.2(ZNF585A):c.335G>C (p.Ser112Thr)	ZNF585A (S57T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509092	NM_001288800.2(ZNF585A):c.1433G>T (p.Arg478Leu)	ZNF585A (R423L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495156	NM_001288800.2(ZNF585A):c.1909G>A (p.Ala637Thr)	ZNF585A (A582T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458727	NM_001288800.2(ZNF585A):c.953G>A (p.Arg318His)	ZNF585A (R318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401529	NM_001288800.2(ZNF585A):c.443A>C (p.His148Pro)	ZNF585A (H93P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324717	NM_001288800.2(ZNF585A):c.1070C>T (p.Thr357Ile)	ZNF585A (T302I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315609	NM_001288800.2(ZNF585A):c.1766G>A (p.Arg589His)	ZNF585A (R589H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306816	NM_001288800.2(ZNF585A):c.695A>G (p.His232Arg)	ZNF585A (H232R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300425	NM_001288800.2(ZNF585A):c.193T>G (p.Ser65Ala)	ZNF585A (S65A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286164	NM_001288800.2(ZNF585A):c.988G>A (p.Glu330Lys)	ZNF585A (E275K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285800	NM_001288800.2(ZNF585A):c.1535A>G (p.His512Arg)	ZNF585A (H457R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271960	NM_001288800.2(ZNF585A):c.811A>G (p.Ile271Val)	ZNF585A (I216V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262272	NM_001288800.2(ZNF585A):c.1058C>T (p.Ser353Phe)	ZNF585A (S353F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249466	NM_001288800.2(ZNF585A):c.1433G>A (p.Arg478Gln)	ZNF585A (R423Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245207	NM_001288800.2(ZNF585A):c.1886C>G (p.Thr629Arg)	ZNF585A (T574R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236518	NM_001288800.2(ZNF585A):c.2195A>G (p.Asn732Ser)	ZNF585A (N732S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231901	NM_001288800.2(ZNF585A):c.636A>C (p.Lys212Asn)	ZNF585A (K157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224994	NM_001288800.2(ZNF585A):c.832G>A (p.Ala278Thr)	ZNF585A (A223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 more	Copy number loss	not specified	GUncertain significance
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 442455	GRCh37/hg19 19q13.12(chr19:37431411-37747108)x1	ZNF383, ZNF420 +3 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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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
Select item 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57