ClinVar for Gene (Select 253639) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258952	NM_175888.4(ZNF620):c.977A>G (p.His326Arg)	ZNF620 (H212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258951	NM_175888.4(ZNF620):c.301C>T (p.Pro101Ser)	ZNF620 (P101S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258950	NM_175888.4(ZNF620):c.308A>G (p.Asp103Gly)	ZNF620 (D103G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258949	NM_175888.4(ZNF620):c.1039T>A (p.Ser347Thr)	ZNF620 (S233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258948	NM_175888.4(ZNF620):c.247C>T (p.Leu83Phe)	ZNF620 (L83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197275	NM_175888.4(ZNF620):c.732A>G (p.Ile244Met)	ZNF620 (I244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197274	NM_175888.4(ZNF620):c.449A>G (p.His150Arg)	ZNF620 (H36R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197272	NM_175888.4(ZNF620):c.1241A>C (p.His414Pro)	ZNF620 (H300P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197271	NM_175888.4(ZNF620):c.1186G>A (p.Val396Met)	ZNF620 (V396M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611196	NM_175888.4(ZNF620):c.623T>C (p.Met208Thr)	ZNF620 (M208T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596133	NM_175888.4(ZNF620):c.1177G>A (p.Glu393Lys)	ZNF620 (E279K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518752	NM_175888.4(ZNF620):c.113A>C (p.Glu38Ala)	ZNF620 (E38A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478318	NM_175888.4(ZNF620):c.929G>A (p.Cys310Tyr)	ZNF620 (C196Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468241	NM_175888.4(ZNF620):c.806A>T (p.Gln269Leu)	ZNF620 (Q155L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323070	NM_175888.4(ZNF620):c.254G>T (p.Gly85Val)	ZNF620 (G85V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305739	NM_175888.4(ZNF620):c.886C>T (p.Leu296Phe)	ZNF620 (L296F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294540	NM_175888.4(ZNF620):c.832A>G (p.Lys278Glu)	ZNF620 (K164E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266039	NM_175888.4(ZNF620):c.638G>C (p.Arg213Pro)	ZNF620 (R99P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254832	NM_175888.4(ZNF620):c.413G>C (p.Gly138Ala)	ZNF620 (G138A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248628	NM_175888.4(ZNF620):c.937T>C (p.Cys313Arg)	ZNF620 (C199R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27