ClinVar for Gene (Select 7568) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194297	NM_021143.4(ZNF20):c.876C>G (p.Phe292Leu)	ZNF20, ZNF625-ZNF20 (F289L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194296	NM_021143.4(ZNF20):c.550T>G (p.Ser184Ala)	ZNF20, ZNF625-ZNF20 (S181A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194295	NM_021143.4(ZNF20):c.44G>A (p.Ser15Asn)	ZNF20, ZNF625-ZNF20 (S15N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194294	NM_021143.4(ZNF20):c.34G>A (p.Val12Met)	ZNF20, ZNF625-ZNF20 (V12M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194293	NM_021143.4(ZNF20):c.28G>A (p.Glu10Lys)	ZNF20, ZNF625-ZNF20 (E7K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194291	NM_021143.4(ZNF20):c.180A>T (p.Lys60Asn)	ZNF20, ZNF625-ZNF20 (K57N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194290	NM_021143.4(ZNF20):c.151A>C (p.Lys51Gln)	ZNF20, ZNF625-ZNF20 (K48Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194289	NM_021143.4(ZNF20):c.1432C>T (p.Pro478Ser)	ZNF20, ZNF625-ZNF20 (P475S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194288	NM_021143.4(ZNF20):c.1255G>A (p.Gly419Arg)	ZNF20, ZNF625-ZNF20 (G419R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194287	NM_021143.4(ZNF20):c.1068G>T (p.Arg356Ser)	ZNF20, ZNF625-ZNF20 (R353S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194286	NM_021143.4(ZNF20):c.1067G>A (p.Arg356Lys)	ZNF20, ZNF625-ZNF20 (R356K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2613418	NM_021143.4(ZNF20):c.1003G>A (p.Gly335Arg)	ZNF20, ZNF625-ZNF20 (G335R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603382	NM_021143.4(ZNF20):c.1232G>A (p.Arg411His)	ZNF20, ZNF625-ZNF20 (R408H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2595088	NM_021143.4(ZNF20):c.1577G>T (p.Arg526Ile)	ZNF20, ZNF625-ZNF20 (R523I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2590203	NM_021143.4(ZNF20):c.763G>A (p.Asp255Asn)	ZNF20, ZNF625-ZNF20 (D252N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589845	NM_021143.4(ZNF20):c.391A>G (p.Lys131Glu)	ZNF20, ZNF625-ZNF20 (K128E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511266	NM_021143.4(ZNF20):c.565C>T (p.His189Tyr)	ZNF20, ZNF625-ZNF20 (H189Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461548	NM_021143.4(ZNF20):c.277A>T (p.Met93Leu)	ZNF20, ZNF625-ZNF20 (M90L +1 more)	Single nucleotide variant (non-coding transcript 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 2405664	NM_021143.4(ZNF20):c.680A>G (p.Tyr227Cys)	ZNF20, ZNF625-ZNF20 (Y227C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2389114	NM_021143.4(ZNF20):c.1163C>T (p.Thr388Met)	ZNF20, ZNF625-ZNF20 (T388M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2384286	NM_021143.4(ZNF20):c.1550G>A (p.Arg517His)	ZNF20, ZNF625-ZNF20 (R514H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2326586	NM_021143.4(ZNF20):c.992G>A (p.Arg331Lys)	ZNF20, ZNF625-ZNF20 (R328K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2321964	NM_021143.4(ZNF20):c.1096C>T (p.Pro366Ser)	ZNF20, ZNF625-ZNF20 (P366S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2315608	NM_021143.4(ZNF20):c.116C>A (p.Thr39Asn)	ZNF20, ZNF625-ZNF20 (T36N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259856	NM_021143.4(ZNF20):c.85A>C (p.Lys29Gln)	ZNF20, ZNF625-ZNF20 (K26Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2218257	NM_021143.4(ZNF20):c.1252A>G (p.Thr418Ala)	ZNF20, ZNF625-ZNF20 (T415A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1809154	GRCh37/hg19 19p13.2(chr19:11753820-12272905)x1	ZNF20, ZNF433 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1340169	GRCh37/hg19 19p13.2(chr19:12061304-12242460)x1	ZNF20, ZNF433 +4 more	Copy number loss	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
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 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

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Links from Gene

Items: 45