ClinVar for Gene (Select 51710) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195783	NM_016264.4(ZNF44):c.638G>A (p.Arg213His)	ZNF44 (R181H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195782	NM_016264.4(ZNF44):c.637C>T (p.Arg213Cys)	ZNF44 (R181C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195781	NM_016264.4(ZNF44):c.289C>A (p.Pro97Thr)	ZNF44 (P145T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195780	NM_016264.4(ZNF44):c.258G>C (p.Gln86His)	ZNF44 (Q134H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195779	NM_016264.4(ZNF44):c.168C>A (p.His56Gln)	ZNF44 (H104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195778	NM_016264.4(ZNF44):c.1129C>T (p.Arg377Cys)	ZNF44 (R425C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195777	NM_016264.4(ZNF44):c.1103A>G (p.Lys368Arg)	ZNF44 (K336R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195776	NM_016264.4(ZNF44):c.1079C>G (p.Thr360Ser)	ZNF44 (T248S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195775	NM_016264.4(ZNF44):c.1002T>G (p.Asp334Glu)	ZNF44 (D302E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195774	NM_016264.4(ZNF44):c.883T>G (p.Ser295Ala)	ZNF44 (S295A +3 more)	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 2690467	NM_016264.4(ZNF44):c.1493dup (p.His498fs)	ZNF44 (H386fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2623264	NM_016264.4(ZNF44):c.17T>C (p.Phe6Ser)	ZNF44 (F6S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602256	NM_016264.4(ZNF44):c.1333G>A (p.Gly445Arg)	ZNF44 (G413R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560859	NM_016264.4(ZNF44):c.394G>A (p.Glu132Lys)	ZNF44 (E132K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518483	NM_016264.4(ZNF44):c.3+1443G>A	ZNF44 (G44S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496019	NM_016264.4(ZNF44):c.1679A>G (p.Tyr560Cys)	ZNF44 (Y560C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461446	NM_016264.4(ZNF44):c.1213C>T (p.Pro405Ser)	ZNF44 (P405S +3 more)	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 2406319	NM_016264.4(ZNF44):c.620T>C (p.Phe207Ser)	ZNF44 (F175S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402987	NM_016264.4(ZNF44):c.923C>A (p.Pro308His)	ZNF44 (P356H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402986	NM_016264.4(ZNF44):c.922C>A (p.Pro308Thr)	ZNF44 (P196T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402084	NM_016264.4(ZNF44):c.481A>G (p.Arg161Gly)	ZNF44 (R49G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400225	NM_016264.4(ZNF44):c.1396C>T (p.His466Tyr)	ZNF44 (H434Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394987	NM_016264.4(ZNF44):c.260T>C (p.Ile87Thr)	ZNF44 (I87T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390094	NM_016264.4(ZNF44):c.1489A>T (p.Thr497Ser)	ZNF44 (T385S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381556	NM_016264.4(ZNF44):c.1471T>G (p.Phe491Val)	ZNF44 (F459V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381222	NM_016264.4(ZNF44):c.1477C>T (p.Arg493Cys)	ZNF44 (R493C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378002	NM_016264.4(ZNF44):c.1292G>A (p.Arg431His)	ZNF44 (R479H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367482	NM_016264.4(ZNF44):c.782C>G (p.Ala261Gly)	ZNF44 (A149G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363381	NM_016264.4(ZNF44):c.686A>G (p.Gln229Arg)	ZNF44 (Q229R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344429	NM_016264.4(ZNF44):c.1270A>G (p.Lys424Glu)	ZNF44 (K312E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328235	NM_016264.4(ZNF44):c.623G>C (p.Trp208Ser)	ZNF44 (W176S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304422	NM_016264.4(ZNF44):c.1152G>A (p.Met384Ile)	ZNF44 (M352I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283162	NM_016264.4(ZNF44):c.3+1369A>G	ZNF44 (N19S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222164	NM_016264.4(ZNF44):c.1709G>T (p.Ser570Ile)	ZNF44 (S618I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212012	NM_016264.4(ZNF44):c.1580C>T (p.Thr527Met)	ZNF44 (T527M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209978	NM_016264.4(ZNF44):c.1023A>G (p.Ile341Met)	ZNF44 (I389M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207935	NM_016264.4(ZNF44):c.541C>G (p.Pro181Ala)	ZNF44 (P181A +3 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 789242	NM_016264.4(ZNF44):c.101G>C (p.Arg34Pro)	ZNF44 (R2P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 789241	NM_016264.4(ZNF44):c.659C>T (p.Thr220Ile)	ZNF44 (T268I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787480	NM_016264.4(ZNF44):c.801A>G (p.Ser267=)	ZNF44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777291	NM_016264.4(ZNF44):c.1327C>T (p.His443Tyr)	ZNF44 (H491Y +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718725	NM_016264.4(ZNF44):c.1512T>C (p.Tyr504=)	ZNF44	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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)	PRKCSH, PTGER1 +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	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +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	LOC130063796, LOC130063797 +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	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 62