ClinVar for Gene (Select 285267) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258947	NM_001145093.4(ZNF619):c.1112C>G (p.Pro371Arg)	ZNF619 (P355R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258946	NM_001145093.4(ZNF619):c.892A>G (p.Ser298Gly)	ZNF619 (S282G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258945	NM_001145093.4(ZNF619):c.665A>T (p.His222Leu)	ZNF619 (H164L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258944	NM_001145093.4(ZNF619):c.179-245C>T	ZNF619 (P98S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258943	NM_001145093.4(ZNF619):c.208A>G (p.Ile70Val)	ZNF619 (I12V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197270	NM_001145093.4(ZNF619):c.746G>T (p.Arg249Leu)	ZNF619 (R205L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197269	NM_001145093.4(ZNF619):c.665A>G (p.His222Arg)	ZNF619 (H164R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197268	NM_001145093.4(ZNF619):c.518C>G (p.Thr173Ser)	ZNF619 (T115S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197267	NM_001145093.4(ZNF619):c.499G>T (p.Asp167Tyr)	ZNF619 (D109Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197266	NM_001145093.4(ZNF619):c.442C>G (p.Leu148Val)	ZNF619 (L132V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197265	NM_001145093.4(ZNF619):c.328A>C (p.Thr110Pro)	ZNF619 (T101P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197264	NM_001145093.4(ZNF619):c.308A>G (p.Lys103Arg)	ZNF619 (K45R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197263	NM_001145093.4(ZNF619):c.268G>A (p.Gly90Arg)	ZNF619 (G90R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197262	NM_001145093.4(ZNF619):c.178+285C>A	ZNF619 (L84I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3197261	NM_001145093.4(ZNF619):c.178+220C>T	ZNF619 (T62I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3197260	NM_001145093.4(ZNF619):c.1675G>A (p.Ala559Thr)	ZNF619 (A501T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197258	NM_001145093.4(ZNF619):c.1636C>A (p.Pro546Thr)	ZNF619 (P530T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197257	NM_001145093.4(ZNF619):c.163A>G (p.Asn55Asp)	ZNF619 (K22R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3197256	NM_001145093.4(ZNF619):c.1322T>G (p.Ile441Ser)	ZNF619 (I441S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197255	NM_001145093.4(ZNF619):c.1316A>G (p.Gln439Arg)	ZNF619 (Q423R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197254	NM_001145093.4(ZNF619):c.1154C>T (p.Ser385Leu)	ZNF619 (S327L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197253	NM_001145093.4(ZNF619):c.1139C>T (p.Ala380Val)	ZNF619 (A380V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197252	NM_001145093.4(ZNF619):c.1099A>C (p.Thr367Pro)	ZNF619 (T351P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197251	NM_001145093.4(ZNF619):c.1007G>A (p.Arg336Gln)	ZNF619 (R278Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197250	NM_001145093.4(ZNF619):c.937G>C (p.Glu313Gln)	ZNF619 (E255Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620861	NM_001145093.4(ZNF619):c.784T>C (p.Cys262Arg)	ZNF619 (C302R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620821	NM_001145093.4(ZNF619):c.1213T>C (p.Cys405Arg)	ZNF619 (C347R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607411	NM_001145093.4(ZNF619):c.19T>G (p.Phe7Val)	ZNF619 (V14G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600903	NM_001145093.4(ZNF619):c.1115A>T (p.Tyr372Phe)	ZNF619 (Y328F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594964	NM_001145093.4(ZNF619):c.265G>C (p.Gly89Arg)	ZNF619 (G31R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547505	NM_001145093.4(ZNF619):c.5T>C (p.Leu2Pro)	ZNF619 (L2P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530552	NM_001145093.4(ZNF619):c.589T>G (p.Phe197Val)	ZNF619 (F188V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491011	NM_001145093.4(ZNF619):c.179-254G>A	ZNF619 (A95T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463750	NM_001145093.4(ZNF619):c.746G>A (p.Arg249Gln)	ZNF619 (R191Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373990	NM_001145093.4(ZNF619):c.1270G>A (p.Gly424Arg)	ZNF619 (G415R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373470	NM_001145093.4(ZNF619):c.29T>C (p.Leu10Ser)	ZNF619 (L10S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350287	NM_001145093.4(ZNF619):c.532A>G (p.Ile178Val)	ZNF619 (I134V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342918	NM_001145093.4(ZNF619):c.1111C>A (p.Pro371Thr)	ZNF619 (P355T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329933	NM_001145093.4(ZNF619):c.1129T>C (p.Cys377Arg)	ZNF619 (C319R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326445	NM_001145093.4(ZNF619):c.178+260G>T	ZNF619 (K75N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321824	NM_001145093.4(ZNF619):c.1424A>G (p.Gln475Arg)	ZNF619 (Q459R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314162	NM_001145093.4(ZNF619):c.178+229G>T	ZNF619 (G65V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313957	NM_001145093.4(ZNF619):c.1706C>T (p.Pro569Leu)	ZNF619 (P609L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307238	NM_001145093.4(ZNF619):c.232G>A (p.Ala78Thr)	ZNF619 (A118T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297039	NM_001145093.4(ZNF619):c.669G>C (p.Gln223His)	ZNF619 (Q214H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293403	NM_001145093.4(ZNF619):c.827T>C (p.Leu276Pro)	ZNF619 (L232P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282816	NM_001145093.4(ZNF619):c.1534G>T (p.Ala512Ser)	ZNF619 (A468S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265843	NM_001145093.4(ZNF619):c.1552C>T (p.Pro518Ser)	ZNF619 (P502S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241674	NM_001145093.4(ZNF619):c.885A>C (p.Lys295Asn)	ZNF619 (K251N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238645	NM_001145093.4(ZNF619):c.1372T>C (p.Cys458Arg)	ZNF619 (C414R +5 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

ClinVar

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Links from Gene

Items: 57