342892[Gene ID] - ClinVar

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Items: 77

	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 3198847	NM_001193552.2(ZNF850):c.3229C>A (p.Leu1077Ile)	ZNF850 (L1077I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221336	NM_001193552.2(ZNF850):c.2977G>A (p.Gly993Ser)	ZNF850 (G993S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217091	NM_001193552.2(ZNF850):c.2750G>A (p.Arg917Gln)	ZNF850 (R917Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223493	NM_001193552.2(ZNF850):c.2726G>A (p.Arg909His)	ZNF850 (R909H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208993	NM_001193552.2(ZNF850):c.2642G>A (p.Arg881His)	ZNF850 (R881H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409534	NM_001193552.2(ZNF850):c.2546C>G (p.Ser849Cys)	ZNF850 (S817C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221335	NM_001193552.2(ZNF850):c.2524A>C (p.Ser842Arg)	ZNF850 (S842R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198846	NM_001193552.2(ZNF850):c.2497C>A (p.Pro833Thr)	ZNF850 (P801T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198845	NM_001193552.2(ZNF850):c.2494C>T (p.Arg832Trp)	ZNF850 (R832W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198844	NM_001193552.2(ZNF850):c.2473C>T (p.Arg825Cys)	ZNF850 (R793C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523324	NM_001193552.2(ZNF850):c.2467A>G (p.Thr823Ala)	ZNF850 (T791A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198843	NM_001193552.2(ZNF850):c.2425G>A (p.Gly809Ser)	ZNF850 (G777S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598137	NM_001193552.2(ZNF850):c.2406A>T (p.Gln802His)	ZNF850 (Q770H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455064	NM_001193552.2(ZNF850):c.2384C>T (p.Thr795Ile)	ZNF850 (T795I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259794	NM_001193552.2(ZNF850):c.2336A>G (p.His779Arg)	ZNF850 (H747R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263640	NM_001193552.2(ZNF850):c.2325T>G (p.His775Gln)	ZNF850 (H743Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244420	NM_001193552.2(ZNF850):c.2272G>A (p.Asp758Asn)	ZNF850 (D758N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198842	NM_001193552.2(ZNF850):c.2183C>T (p.Pro728Leu)	ZNF850 (P728L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259790	NM_001193552.2(ZNF850):c.2075G>A (p.Arg692Gln)	ZNF850 (R692Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198841	NM_001193552.2(ZNF850):c.1966A>G (p.Ser656Gly)	ZNF850 (S624G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601175	NM_001193552.2(ZNF850):c.1885C>T (p.Arg629Cys)	ZNF850 (R597C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198840	NM_001193552.2(ZNF850):c.1798G>A (p.Val600Ile)	ZNF850 (V600I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460599	NM_001193552.2(ZNF850):c.1742G>A (p.Arg581Gln)	ZNF850 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207430	NM_001193552.2(ZNF850):c.1657G>C (p.Ala553Pro)	ZNF850 (A553P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198839	NM_001193552.2(ZNF850):c.1634G>A (p.Arg545His)	ZNF850 (R513H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198838	NM_001193552.2(ZNF850):c.1607A>G (p.Lys536Arg)	ZNF850 (K536R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198837	NM_001193552.2(ZNF850):c.1578T>G (p.Ile526Met)	ZNF850 (I494M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259788	NM_001193552.2(ZNF850):c.1549G>T (p.Gly517Cys)	ZNF850 (G485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345135	NM_001193552.2(ZNF850):c.1502G>T (p.Gly501Val)	ZNF850 (G469V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356107	NM_001193552.2(ZNF850):c.1490G>A (p.Arg497Gln)	ZNF850 (R465Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313146	NM_001193552.2(ZNF850):c.1481G>A (p.Arg494Gln)	ZNF850 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561300	NM_001193552.2(ZNF850):c.1405C>T (p.Arg469Trp)	ZNF850 (R437W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240637	NM_001193552.2(ZNF850):c.1379C>T (p.Ser460Leu)	ZNF850 (S428L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259795	NM_001193552.2(ZNF850):c.1343C>T (p.Pro448Leu)	ZNF850 (P416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259797	NM_001193552.2(ZNF850):c.1259C>T (p.Pro420Leu)	ZNF850 (P388L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198836	NM_001193552.2(ZNF850):c.1214G>A (p.Arg405His)	ZNF850 (R405H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244130	NM_001193552.2(ZNF850):c.1210T>G (p.Phe404Val)	ZNF850 (F372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523349	NM_001193552.2(ZNF850):c.1154G>A (p.Arg385Gln)	ZNF850 (R353Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259791	NM_001193552.2(ZNF850):c.1121T>C (p.Phe374Ser)	ZNF850 (F374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198835	NM_001193552.2(ZNF850):c.1114A>C (p.Lys372Gln)	ZNF850 (K372Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295926	NM_001193552.2(ZNF850):c.1046G>T (p.Gly349Val)	ZNF850 (G349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374377	NM_001193552.2(ZNF850):c.1007C>T (p.Pro336Leu)	ZNF850 (P336L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615417	NM_001193552.2(ZNF850):c.998G>T (p.Gly333Val)	ZNF850 (G301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198848	NM_001193552.2(ZNF850):c.977G>A (p.Arg326Gln)	ZNF850 (R294Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619395	NM_001193552.2(ZNF850):c.968C>T (p.Thr323Ile)	ZNF850 (T291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314133	NM_001193552.2(ZNF850):c.887T>G (p.Leu296Arg)	ZNF850 (L264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619224	NM_001193552.2(ZNF850):c.807T>G (p.Ile269Met)	ZNF850 (I237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259792	NM_001193552.2(ZNF850):c.806T>C (p.Ile269Thr)	ZNF850 (I237T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259793	NM_001193552.2(ZNF850):c.775G>C (p.Val259Leu)	ZNF850 (V259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618227	NM_001193552.2(ZNF850):c.715C>T (p.His239Tyr)	ZNF850 (H207Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471674	NM_001193552.2(ZNF850):c.674G>A (p.Cys225Tyr)	ZNF850 (C225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242563	NM_001193552.2(ZNF850):c.632A>G (p.Tyr211Cys)	ZNF850 (Y179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349198	NM_001193552.2(ZNF850):c.620A>G (p.His207Arg)	ZNF850 (H175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368769	NM_001193552.2(ZNF850):c.586C>T (p.Leu196Phe)	ZNF850 (L164F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355530	NM_001193552.2(ZNF850):c.580G>A (p.Glu194Lys)	ZNF850 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243140	NM_001193552.2(ZNF850):c.485G>A (p.Arg162Gln)	ZNF850 (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390095	NM_001193552.2(ZNF850):c.287A>G (p.Tyr96Cys)	ZNF850 (Y96C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343530	NM_001193552.2(ZNF850):c.283A>C (p.Ile95Leu)	ZNF850 (I63L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259796	NM_001193552.2(ZNF850):c.257C>G (p.Thr86Ser)	ZNF850 (T54S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546856	NM_001193552.2(ZNF850):c.190G>C (p.Glu64Gln)	ZNF850 (E64Q)	Single nucleotide variant (missense variant +1 more)	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 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
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 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 394412	GRCh37/hg19 19q13.12(chr19:37130813-37342652)x3	ZNF345, ZNF461 +3 more	Copy number gain	See cases	GBenign
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: 77