ClinVar for Gene (Select 126068) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195803	NM_152355.3(ZNF441):c.983G>T (p.Arg328Ile)	ZNF441 (R328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195802	NM_152355.3(ZNF441):c.951T>G (p.Phe317Leu)	ZNF441 (F317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195801	NM_152355.3(ZNF441):c.65G>A (p.Gly22Asp)	ZNF441 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195800	NM_152355.3(ZNF441):c.568C>T (p.His190Tyr)	ZNF441 (H190Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195799	NM_152355.3(ZNF441):c.559A>G (p.Met187Val)	ZNF441 (M187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195798	NM_152355.3(ZNF441):c.370G>A (p.Val124Ile)	ZNF441 (V124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195797	NM_152355.3(ZNF441):c.1453T>C (p.Ser485Pro)	ZNF441 (S485P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195796	NM_152355.3(ZNF441):c.1017G>T (p.Lys339Asn)	ZNF441 (K339N)	Single nucleotide variant (missense variant)	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 2649336	NM_152355.3(ZNF441):c.1536T>C (p.Phe512=)	LOC129391062, ZNF441	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623837	NM_152355.3(ZNF441):c.1357G>A (p.Gly453Arg)	ZNF441 (G453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597338	NM_152355.3(ZNF441):c.331G>A (p.Val111Ile)	ZNF441 (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525813	NM_152355.3(ZNF441):c.166C>A (p.Gln56Lys)	ZNF441 (Q56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473955	NM_152355.3(ZNF441):c.1483A>G (p.Ile495Val)	ZNF441 (I495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469082	NM_152355.3(ZNF441):c.820C>A (p.His274Asn)	ZNF441 (H274N)	Single nucleotide variant (missense variant)	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	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2401694	NM_152355.3(ZNF441):c.1460T>C (p.Leu487Pro)	ZNF441 (L487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396248	NM_152355.3(ZNF441):c.985A>G (p.Thr329Ala)	ZNF441 (T329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374412	NM_152355.3(ZNF441):c.125G>A (p.Cys42Tyr)	ZNF441 (C42Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370898	NM_152355.3(ZNF441):c.782T>G (p.Phe261Cys)	ZNF441 (F261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369503	NM_152355.3(ZNF441):c.1759C>T (p.His587Tyr)	ZNF441 (H587Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356106	NM_152355.3(ZNF441):c.605G>T (p.Gly202Val)	ZNF441 (G202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337766	NM_152355.3(ZNF441):c.1592A>T (p.Tyr531Phe)	LOC129391062, ZNF441 (Y531F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306008	NM_152355.3(ZNF441):c.349T>C (p.Ser117Pro)	ZNF441 (S117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303505	NM_152355.3(ZNF441):c.760T>C (p.Cys254Arg)	ZNF441 (C254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292981	NM_152355.3(ZNF441):c.154A>G (p.Ile52Val)	ZNF441 (I52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244315	NM_152355.3(ZNF441):c.1145A>T (p.His382Leu)	ZNF441 (H382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225050	NM_152355.3(ZNF441):c.80G>A (p.Ser27Asn)	ZNF441 (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212119	NM_152355.3(ZNF441):c.506A>G (p.Tyr169Cys)	ZNF441 (Y169C)	Single nucleotide variant (missense variant)	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 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 784386	NM_152355.3(ZNF441):c.267A>G (p.Gln89=)	ZNF441	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781457	NM_152355.3(ZNF441):c.96G>C (p.Val32=)	ZNF441	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709377	NM_152355.3(ZNF441):c.1914T>A (p.Thr638=)	ZNF441	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 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 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: 47