ClinVar for Gene (Select 340512) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068752	NM_021224.6(ZNF462):c.*13A>G	LOC340512, ZNF462	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3062074	NM_021224.6(ZNF462):c.7058_7077del (p.Val2353fs)	LOC340512, ZNF462 (V1488fs +1 more)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 3052871	NM_021224.6(ZNF462):c.7390C>T (p.Pro2464Ser)	LOC340512, ZNF462 (P1599S +1 more)	Single nucleotide variant (missense variant)	ZNF462-related condition	GLikely benign
Select item 3050287	NM_021224.6(ZNF462):c.*2C>T	LOC340512, ZNF462	Single nucleotide variant (3 prime UTR variant)	ZNF462-related condition	GBenign
Select item 3049434	NM_021224.6(ZNF462):c.7296T>C (p.His2432=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related condition	GLikely benign
Select item 3048690	NM_021224.6(ZNF462):c.7230T>C (p.Thr2410=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related condition	GLikely benign
Select item 3031273	NM_021224.6(ZNF462):c.6925T>A (p.Cys2309Ser)	LOC340512, ZNF462 (C1444S +1 more)	Single nucleotide variant (missense variant)	ZNF462-related condition	GUncertain significance
Select item 2659406	NM_021224.6(ZNF462):c.7308C>T (p.His2436=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659405	NM_021224.6(ZNF462):c.7149G>A (p.Glu2383=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659404	NM_021224.6(ZNF462):c.6840T>C (p.Arg2280=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618163	NM_021224.6(ZNF462):c.7393T>C (p.Ser2465Pro)	LOC340512, ZNF462 (S2465P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581935	NM_021224.6(ZNF462):c.7313+1G>A	LOC340512, ZNF462	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 2571996	NM_021224.6(ZNF462):c.7159G>A (p.Glu2387Lys)	LOC340512, ZNF462 (E1522K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380104	NM_021224.6(ZNF462):c.7423A>G (p.Ile2475Val)	ZNF462, LOC340512 (I2475V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367663	NM_021224.6(ZNF462):c.7050G>C (p.Glu2350Asp)	LOC340512, ZNF462 (E2350D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2297611	NM_021224.6(ZNF462):c.7244C>T (p.Pro2415Leu)	LOC340512, ZNF462 (P2415L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804276	NM_021224.6(ZNF462):c.6919T>C (p.Phe2307Leu)	LOC340512, ZNF462 (F1442L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800897	NM_021224.6(ZNF462):c.6942C>A (p.Ser2314Arg)	LOC340512, ZNF462 (S1449R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712918	NM_021224.6(ZNF462):c.7301T>G (p.Leu2434Arg)	ZNF462, LOC340512 (L1569R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712574	NM_021224.6(ZNF462):c.7111A>T (p.Met2371Leu)	ZNF462, LOC340512 (M1506L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331567	NM_021224.6(ZNF462):c.7430T>C (p.Ile2477Thr)	LOC340512, ZNF462 (I1612T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328825	NM_021224.6(ZNF462):c.7180G>A (p.Glu2394Lys)	LOC340512, ZNF462 (E1529K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272174	NM_021224.6(ZNF462):c.7355A>T (p.His2452Leu)	LOC340512, ZNF462 (H1587L +1 more)	Single nucleotide variant (missense variant)	ZNF462-related condition +1 more	GBenign
Select item 801364	NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly)	ZNF462, LOC340512 (E1532G +1 more)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 149094	GRCh38/hg38 9q31.2(chr9:106830931-107428889)x3	LINC01509, LOC121331341 +10 more	Copy number gain	See cases	GLikely benign
Select item 148954	GRCh38/hg38 9q31.2(chr9:106178482-107049249)x3	LINC01505, LOC126860715 +7 more	Copy number gain	See cases	GLikely benign
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	LOC132089619, LOC132089620 +310 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 58480	GRCh38/hg38 9q31.2(chr9:106998471-107651321)x3	KLF4, LINC01509 +13 more	Copy number gain	See cases	GUncertain significance
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 46