ClinVar for Gene (Select 79973) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335813	NM_030824.3(ZNF442):c.1874A>G (p.Asp625Gly)	ZNF442 (D625G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335812	NM_030824.3(ZNF442):c.1743C>A (p.Phe581Leu)	ZNF442 (F512L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335811	NM_030824.3(ZNF442):c.40C>T (p.Leu14Phe)	ZNF442 (L14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335810	NM_030824.3(ZNF442):c.1685A>G (p.His562Arg)	ZNF442 (H493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195815	NM_030824.3(ZNF442):c.755A>G (p.Tyr252Cys)	ZNF442 (Y252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195814	NM_030824.3(ZNF442):c.604G>A (p.Val202Ile)	ZNF442 (V133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195813	NM_030824.3(ZNF442):c.395G>T (p.Cys132Phe)	ZNF442 (C132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195812	NM_030824.3(ZNF442):c.395G>A (p.Cys132Tyr)	ZNF442 (C63Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195811	NM_030824.3(ZNF442):c.307G>C (p.Asp103His)	ZNF442 (D34H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195810	NM_030824.3(ZNF442):c.299G>T (p.Arg100Leu)	ZNF442 (R31L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195809	NM_030824.3(ZNF442):c.1864C>T (p.His622Tyr)	ZNF442 (H622Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195808	NM_030824.3(ZNF442):c.1558A>G (p.Thr520Ala)	ZNF442 (T451A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195807	NM_030824.3(ZNF442):c.1408A>G (p.Ile470Val)	ZNF442 (I470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195806	NM_030824.3(ZNF442):c.1342C>A (p.Leu448Ile)	ZNF442 (L448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195805	NM_030824.3(ZNF442):c.1277C>T (p.Thr426Ile)	ZNF442 (T426I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195804	NM_030824.3(ZNF442):c.1166A>G (p.His389Arg)	ZNF442 (H320R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2618496	NM_030824.3(ZNF442):c.1030A>C (p.Thr344Pro)	ZNF442 (T275P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608164	NM_030824.3(ZNF442):c.517A>G (p.Arg173Gly)	ZNF442 (R104G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607814	NM_030824.3(ZNF442):c.917G>A (p.Ser306Asn)	ZNF442 (S237N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606978	NM_030824.3(ZNF442):c.1243A>G (p.Ile415Val)	ZNF442 (I346V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542572	NM_030824.3(ZNF442):c.764A>T (p.His255Leu)	ZNF442 (H186L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540221	NM_030824.3(ZNF442):c.263T>C (p.Leu88Pro)	ZNF442 (L88P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533878	NM_030824.3(ZNF442):c.1207G>A (p.Gly403Arg)	ZNF442 (G403R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532036	NM_030824.3(ZNF442):c.1087T>G (p.Ser363Ala)	ZNF442 (S294A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516138	NM_030824.3(ZNF442):c.935A>G (p.Glu312Gly)	ZNF442 (E243G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490208	NM_030824.3(ZNF442):c.950G>C (p.Gly317Ala)	ZNF442 (G248A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481153	NM_030824.3(ZNF442):c.733G>T (p.Ala245Ser)	ZNF442 (A245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478622	NM_030824.3(ZNF442):c.1127C>T (p.Pro376Leu)	ZNF442 (P307L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458824	NM_030824.3(ZNF442):c.785A>G (p.Glu262Gly)	ZNF442 (E262G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458199	NM_030824.3(ZNF442):c.604G>T (p.Val202Leu)	ZNF442 (V202L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454529	NM_030824.3(ZNF442):c.104C>T (p.Ala35Val)	ZNF442 (A35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2402941	NM_030824.3(ZNF442):c.515A>G (p.Glu172Gly)	ZNF442 (E103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400446	NM_030824.3(ZNF442):c.538C>T (p.Arg180Cys)	ZNF442 (R111C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375654	NM_030824.3(ZNF442):c.1747C>T (p.Arg583Cys)	ZNF442 (R514C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374691	NM_030824.3(ZNF442):c.710A>G (p.Tyr237Cys)	ZNF442 (Y237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372496	NM_030824.3(ZNF442):c.145T>C (p.Ser49Pro)	ZNF442 (S49P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334191	NM_030824.3(ZNF442):c.1210C>T (p.Pro404Ser)	ZNF442 (P335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327710	NM_030824.3(ZNF442):c.1162C>T (p.His388Tyr)	ZNF442 (H388Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306722	NM_030824.3(ZNF442):c.1615A>T (p.Thr539Ser)	ZNF442 (T470S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294435	NM_030824.3(ZNF442):c.940A>C (p.Thr314Pro)	ZNF442 (T314P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291855	NM_030824.3(ZNF442):c.1748G>A (p.Arg583His)	ZNF442 (R514H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281438	NM_030824.3(ZNF442):c.547T>C (p.Cys183Arg)	ZNF442 (C114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263719	NM_030824.3(ZNF442):c.962A>G (p.Tyr321Cys)	ZNF442 (Y321C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248102	NM_030824.3(ZNF442):c.1733G>A (p.Gly578Asp)	ZNF442 (G578D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239872	NM_030824.3(ZNF442):c.143C>T (p.Pro48Leu)	ZNF442 (P48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213617	NM_030824.3(ZNF442):c.1799A>G (p.His600Arg)	ZNF442 (H531R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210925	NM_030824.3(ZNF442):c.1033G>A (p.Gly345Arg)	ZNF442 (G345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210924	NM_030824.3(ZNF442):c.1025G>T (p.Arg342Met)	ZNF442 (R273M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210923	NM_030824.3(ZNF442):c.1021A>G (p.Ile341Val)	ZNF442 (I272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980196	GRCh37/hg19 19p13.2(chr19:12343654-12519924)x1	ZNF563, ZNF442 +2 more	Copy number loss	not provided	GLikely benign
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 70