116115[geneid] - ClinVar

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Items: 83

	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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064658	NC_000019.10:g.41983952_42247520del	ATP1A3, DEDD2 +33 more	Deletion	Syndromic intellectual disability	GPathogenic
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064662	GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1	DEDD2, ERF +11 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 437385	NM_133444.3(ZNF526):c.-2C>T	ZNF526	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1722900	NM_133444.3(ZNF526):c.47C>G (p.Ser16Ter)	ZNF526 (S16*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 130834	NM_133444.3(ZNF526):c.81G>A (p.Ser27=)	ZNF526	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2345984	NM_133444.3(ZNF526):c.103A>G (p.Thr35Ala)	ZNF526 (T35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130837	NM_133444.3(ZNF526):c.281T>C (p.Val94Ala)	ZNF526 (V94A)	Single nucleotide variant (missense variant)	ZNF526-related disorder	GBenign
Select item 2606644	NM_133444.3(ZNF526):c.289G>C (p.Glu97Gln)	ZNF526 (E97Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242562	NM_133444.3(ZNF526):c.304C>G (p.Pro102Ala)	ZNF526 (P102A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196466	NM_133444.3(ZNF526):c.341G>A (p.Ser114Asn)	ZNF526 (S114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346503	NM_133444.3(ZNF526):c.395G>A (p.Arg132Gln)	ZNF526 (R132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 183288	NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)	ZNF526 (K160T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 130832	NM_133444.3(ZNF526):c.501G>A (p.Thr167=)	ZNF526	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1722893	NM_133444.3(ZNF526):c.514C>A (p.Pro172Thr)	ZNF526 (P172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 130838	NM_133444.3(ZNF526):c.566C>T (p.Pro189Leu)	ZNF526 (P189L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2317950	NM_133444.3(ZNF526):c.619G>A (p.Ala207Thr)	ZNF526 (A207T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130833	NM_133444.3(ZNF526):c.750_752del (p.Asp250del)	ZNF526 (D250del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 212686	NM_133444.3(ZNF526):c.752AGG[1] (p.Glu252del)	ZNF526 (E252del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 212687	NM_133444.3(ZNF526):c.756G>A (p.Glu252=)	ZNF526	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3196467	NM_133444.3(ZNF526):c.772G>A (p.Gly258Ser)	ZNF526 (G258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212688	NM_133444.3(ZNF526):c.796G>A (p.Glu266Lys)	ZNF526 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437386	NM_133444.3(ZNF526):c.825C>T (p.Cys275=)	ZNF526	Single nucleotide variant (synonymous variant)	ZNF526-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2462662	NM_133444.3(ZNF526):c.826G>A (p.Gly276Arg)	ZNF526 (G276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606729	NM_133444.3(ZNF526):c.853G>T (p.Ala285Ser)	ZNF526 (A285S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196468	NM_133444.3(ZNF526):c.862C>T (p.Arg288Cys)	ZNF526 (R288C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610734	NM_133444.3(ZNF526):c.869A>C (p.Gln290Pro)	ZNF526 (Q290P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687024	NM_133444.3(ZNF526):c.907_908insT (p.His303fs)	ZNF526 (H303fs)	Insertion (frameshift variant)	Dentici-Novelli neurodevelopmental syndrome	GPathogenic
Select item 1336478	NM_133444.3(ZNF526):c.910C>T (p.Pro304Ser)	ZNF526 (P304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255998	NM_133444.3(ZNF526):c.934C>T (p.Arg312Cys)	ZNF526 (R312C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196469	NM_133444.3(ZNF526):c.938G>A (p.Ser313Asn)	ZNF526 (S313N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196470	NM_133444.3(ZNF526):c.955C>T (p.Arg319Trp)	ZNF526 (R319W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196471	NM_133444.3(ZNF526):c.956G>A (p.Arg319Gln)	ZNF526 (R319Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437387	NM_133444.3(ZNF526):c.994C>T (p.His332Tyr)	ZNF526 (H332Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1337565	NM_133444.3(ZNF526):c.1055G>A (p.Arg352Gln)	ZNF526 (R352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687026	NM_133444.3(ZNF526):c.1227C>G (p.His409Gln)	ZNF526 (H409Q)	Single nucleotide variant (missense variant)	Dentici-Novelli neurodevelopmental syndrome	GPathogenic
Select item 2251523	NM_133444.3(ZNF526):c.1231G>A (p.Gly411Ser)	ZNF526 (G411S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981431	NM_133444.3(ZNF526):c.1280C>T (p.Ala427Val)	ZNF526 (A427V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3196458	NM_133444.3(ZNF526):c.1289C>G (p.Thr430Ser)	ZNF526 (T430S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294472	NM_133444.3(ZNF526):c.1331G>T (p.Cys444Phe)	ZNF526 (C444F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372192	NM_133444.3(ZNF526):c.1367G>A (p.Arg456Gln)	ZNF526 (R456Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196459	NM_133444.3(ZNF526):c.1381C>T (p.Arg461Trp)	ZNF526 (R461W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212682	NM_133444.3(ZNF526):c.1384C>T (p.Arg462Cys)	ZNF526 (R462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511074	NM_133444.3(ZNF526):c.1409G>A (p.Arg470Gln)	ZNF526 (R470Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222420	NM_133444.3(ZNF526):c.1456C>T (p.His486Tyr)	ZNF526 (H486Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437388	NM_133444.3(ZNF526):c.1458C>T (p.His486=)	ZNF526	Single nucleotide variant (synonymous variant)	ZNF526-related disorder +1 more	GLikely benign
Select item 130830	NM_133444.3(ZNF526):c.1485G>A (p.Thr495=)	ZNF526	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1687023	NM_133444.3(ZNF526):c.1512_1513del (p.Cys505fs)	ZNF526 (C505fs)	Deletion (frameshift variant)	Dentici-Novelli neurodevelopmental syndrome	GPathogenic
Select item 3050492	NM_133444.3(ZNF526):c.1524C>A (p.Thr508=)	ZNF526	Single nucleotide variant (synonymous variant)	ZNF526-related disorder	GLikely benign
Select item 3196460	NM_133444.3(ZNF526):c.1544T>G (p.Leu515Arg)	ZNF526 (L515R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446586	NM_133444.3(ZNF526):c.1583A>G (p.Tyr528Cys)	ZNF526 (Y528C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130835	NM_133444.3(ZNF526):c.1585C>T (p.Gln529Ter)	ZNF526 (Q529*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 3196461	NM_133444.3(ZNF526):c.1606C>T (p.Arg536Cys)	ZNF526 (R536C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466310	NM_133444.3(ZNF526):c.1607G>T (p.Arg536Leu)	ZNF526 (R536L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376032	NM_133444.3(ZNF526):c.1628T>C (p.Leu543Pro)	ZNF526 (L543P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130831	NM_133444.3(ZNF526):c.1649A>C (p.His550Pro)	ZNF526 (H550P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 130836	NM_133444.3(ZNF526):c.1662C>T (p.Val554=)	ZNF526	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330802	NM_133444.3(ZNF526):c.1668T>A (p.Phe556Leu)	ZNF526 (F556L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 212683	NM_133444.3(ZNF526):c.1672C>T (p.Arg558Cys)	ZNF526 (R558C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 437389	NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr)	ZNF526 (A559T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 212684	NM_133444.3(ZNF526):c.1758G>A (p.Ala586=)	ZNF526	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3196462	NM_133444.3(ZNF526):c.1777C>T (p.Arg593Trp)	ZNF526 (R593W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196463	NM_133444.3(ZNF526):c.1811A>G (p.Gln604Arg)	ZNF526 (Q604R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3196464	NM_133444.3(ZNF526):c.1831C>T (p.Pro611Ser)	ZNF526 (P611S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364821	NM_133444.3(ZNF526):c.1844C>T (p.Pro615Leu)	ZNF526 (P615L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212685	NM_133444.3(ZNF526):c.1870A>G (p.Met624Val)	ZNF526 (M624V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326087	NM_133444.3(ZNF526):c.1894A>G (p.Ile632Val)	ZNF526 (I632V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437390	NM_133444.3(ZNF526):c.1981G>A (p.Gly661Arg)	ZNF526 (G661R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3196465	NM_133444.3(ZNF526):c.2000C>T (p.Thr667Met)	ZNF526 (T667M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437391	NM_133444.3(ZNF526):c.2002G>C (p.Ala668Pro)	ZNF526 (A668P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3053486	NM_133444.3(ZNF526):c.*1C>T	ZNF526	Single nucleotide variant (3 prime UTR variant)	ZNF526-related disorder	GLikely benign
Select item 1064659	NC_000019.10:g.42227530_42259211del	ERF, GSK3A +8 more	Deletion	Macrocephaly	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 1457848	NC_000019.9:g.(?_42703590)_(42778729_?)del	DEDD2, ERF +2 more	Deletion	TWIST1-related craniosynostosis	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 83