ClinVar for Gene (Select 7629) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259429	NM_003427.5(ZNF76):c.1094G>T (p.Arg365Leu)	ZNF76 (R365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259428	NM_003427.5(ZNF76):c.815G>A (p.Arg272His)	ZNF76 (R272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259427	NM_003427.5(ZNF76):c.1603G>A (p.Val535Met)	ZNF76 (V480M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259426	NM_003427.5(ZNF76):c.1177G>A (p.Ala393Thr)	ZNF76 (A393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259425	NM_003427.5(ZNF76):c.1475A>T (p.Asp492Val)	ZNF76 (D492V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259424	NM_003427.5(ZNF76):c.1051G>A (p.Gly351Ser)	ZNF76 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259423	NM_003427.5(ZNF76):c.649C>T (p.Arg217Cys)	ZNF76 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198147	NM_003427.5(ZNF76):c.928A>G (p.Thr310Ala)	ZNF76 (T310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198146	NM_003427.5(ZNF76):c.895G>A (p.Ala299Thr)	ZNF76 (A299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198145	NM_003427.5(ZNF76):c.650G>A (p.Arg217His)	ZNF76 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198144	NM_003427.5(ZNF76):c.587G>A (p.Arg196Lys)	ZNF76 (R196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198143	NM_003427.5(ZNF76):c.508A>G (p.Lys170Glu)	ZNF76 (K170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198142	NM_003427.5(ZNF76):c.392G>T (p.Ser131Ile)	ZNF76 (S131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198141	NM_003427.5(ZNF76):c.278G>A (p.Gly93Asp)	ZNF76 (G93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198140	NM_003427.5(ZNF76):c.1670G>A (p.Gly557Glu)	ZNF76 (G557E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198139	NM_003427.5(ZNF76):c.1544C>T (p.Ala515Val)	ZNF76 (A460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198138	NM_003427.5(ZNF76):c.1474G>A (p.Asp492Asn)	ZNF76 (D492N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198137	NM_003427.5(ZNF76):c.121A>G (p.Thr41Ala)	LOC126859662, ZNF76 (T41A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608167	NM_003427.5(ZNF76):c.773C>T (p.Pro258Leu)	ZNF76 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599402	NM_003427.5(ZNF76):c.973C>T (p.Arg325Cys)	ZNF76 (R325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541243	NM_003427.5(ZNF76):c.214A>G (p.Ile72Val)	LOC126859662, ZNF76 (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528014	NM_003427.5(ZNF76):c.813C>G (p.Ile271Met)	ZNF76 (I271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524556	NM_003427.5(ZNF76):c.613G>C (p.Ala205Pro)	ZNF76 (A205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524541	NM_003427.5(ZNF76):c.400G>T (p.Ala134Ser)	ZNF76 (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521462	NM_003427.5(ZNF76):c.790C>T (p.Arg264Cys)	ZNF76 (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519921	NM_003427.5(ZNF76):c.392G>A (p.Ser131Asn)	ZNF76 (S131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516587	NM_003427.5(ZNF76):c.262G>A (p.Val88Ile)	ZNF76 (V88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495306	NM_003427.5(ZNF76):c.1348G>C (p.Asp450His)	ZNF76 (D450H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488797	NM_003427.5(ZNF76):c.662G>T (p.Gly221Val)	ZNF76 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2405802	NM_003427.5(ZNF76):c.646G>A (p.Val216Ile)	ZNF76 (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398008	NM_003427.5(ZNF76):c.1445G>T (p.Gly482Val)	ZNF76 (G482V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383118	NM_003427.5(ZNF76):c.496C>T (p.Arg166Cys)	ZNF76 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373848	NM_003427.5(ZNF76):c.400G>A (p.Ala134Thr)	ZNF76 (A134T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330080	NM_003427.5(ZNF76):c.1082C>T (p.Ala361Val)	ZNF76 (A361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308235	NM_003427.5(ZNF76):c.296A>T (p.His99Leu)	ZNF76 (H99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308234	NM_003427.5(ZNF76):c.287C>T (p.Ala96Val)	ZNF76 (A96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294331	NM_003427.5(ZNF76):c.109G>A (p.Glu37Lys)	LOC126859662, ZNF76 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244736	NM_003427.5(ZNF76):c.200G>A (p.Gly67Asp)	LOC126859662, ZNF76 (G67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218248	NM_003427.5(ZNF76):c.521G>A (p.Arg174His)	ZNF76 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218213	NM_003427.5(ZNF76):c.1589G>A (p.Gly530Glu)	ZNF76 (G530E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48