ClinVar for Gene (Select 101929059) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3473865	NM_001387356.1(ZIM2):c.1082G>A (p.Cys361Tyr)	ZIM2, ZIM2-AS1 (C330Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3473863	NM_001387356.1(ZIM2):c.1459C>T (p.Arg487Trp)	ZIM2, ZIM2-AS1 (R487W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3473862	NM_001387356.1(ZIM2):c.1508G>A (p.Gly503Asp)	ZIM2, ZIM2-AS1 (G472D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3473861	NM_001387356.1(ZIM2):c.566C>A (p.Ser189Tyr)	ZIM2, ZIM2-AS1 (S189Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3392189	GRCh37/hg19 19q13.43(chr19:57205811-57554175)x3	PEG3, ZIM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 3334730	NM_001387356.1(ZIM2):c.562G>A (p.Gly188Arg)	ZIM2, ZIM2-AS1 (G157R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334729	NM_001387356.1(ZIM2):c.703G>A (p.Val235Met)	ZIM2, ZIM2-AS1 (V235M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334728	NM_001387356.1(ZIM2):c.1252A>G (p.Asn418Asp)	ZIM2, ZIM2-AS1 (N418D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334727	NM_001387356.1(ZIM2):c.499G>A (p.Ala167Thr)	ZIM2, ZIM2-AS1 (A136T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3193607	NM_001387356.1(ZIM2):c.1045C>T (p.Pro349Ser)	ZIM2, ZIM2-AS1 (P349S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193606	NM_001387356.1(ZIM2):c.818A>G (p.His273Arg)	ZIM2, ZIM2-AS1 (H273R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193605	NM_001387356.1(ZIM2):c.814A>G (p.Arg272Gly)	ZIM2, ZIM2-AS1 (R241G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193604	NM_001387356.1(ZIM2):c.1666G>A (p.Asp556Asn)	ZIM2, ZIM2-AS1 (D525N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193603	NM_001387356.1(ZIM2):c.1603G>A (p.Gly535Ser)	ZIM2, ZIM2-AS1 (G504S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193602	NM_001387356.1(ZIM2):c.1570C>A (p.Pro524Thr)	ZIM2, ZIM2-AS1 (P493T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193601	NM_001387356.1(ZIM2):c.1409T>C (p.Val470Ala)	ZIM2-AS1, ZIM2 (V439A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193600	NM_001387356.1(ZIM2):c.1349A>G (p.Lys450Arg)	ZIM2, ZIM2-AS1 (K419R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193599	NM_001387356.1(ZIM2):c.1250G>T (p.Cys417Phe)	ZIM2, ZIM2-AS1 (C386F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193598	NM_001387356.1(ZIM2):c.1100C>T (p.Thr367Ile)	ZIM2, ZIM2-AS1 (T367I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684894	GRCh37/hg19 19q13.43(chr19:56949121-57419586)x3	PEG3, SMIM17 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2617937	NM_001387356.1(ZIM2):c.951T>A (p.Asp317Glu)	ZIM2, ZIM2-AS1 (D286E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475598	NM_001387356.1(ZIM2):c.848A>G (p.Asp283Gly)	ZIM2, ZIM2-AS1 (D252G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461199	NM_001387356.1(ZIM2):c.844C>T (p.His282Tyr)	ZIM2, ZIM2-AS1 (H251Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394594	NM_001387356.1(ZIM2):c.1357C>T (p.Leu453Phe)	ZIM2, ZIM2-AS1 (L422F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375752	NM_001387356.1(ZIM2):c.1346G>A (p.Gly449Asp)	ZIM2, ZIM2-AS1 (G449D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368737	NM_001387356.1(ZIM2):c.722G>A (p.Arg241Gln)	ZIM2, ZIM2-AS1 (R210Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357071	NM_001387356.1(ZIM2):c.1460G>A (p.Arg487Gln)	ZIM2, ZIM2-AS1 (R456Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349333	NM_001387356.1(ZIM2):c.548A>G (p.Asn183Ser)	ZIM2, ZIM2-AS1 (N152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2301474	NM_001387356.1(ZIM2):c.872G>A (p.Gly291Asp)	ZIM2, ZIM2-AS1 (G291D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290782	NM_001387356.1(ZIM2):c.1652A>G (p.Lys551Arg)	ZIM2, ZIM2-AS1 (K520R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250203	NM_001387356.1(ZIM2):c.697A>T (p.Arg233Trp)	ZIM2, ZIM2-AS1 (R233W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242987	NM_001387356.1(ZIM2):c.1591G>A (p.Gly531Arg)	ZIM2, ZIM2-AS1 (G500R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235635	NM_001387356.1(ZIM2):c.587A>G (p.His196Arg)	ZIM2, ZIM2-AS1 (H196R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218762	NM_001387356.1(ZIM2):c.1074C>A (p.His358Gln)	ZIM2, ZIM2-AS1 (H327Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526673	GRCh37/hg19 19q13.43(chr19:57136208-57478257)	PEG3, SMIM17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 816096	GRCh37/hg19 19q13.43(chr19:56788816-57277655)x3	SMIM17, ZNF71 +8 more	Copy number gain	not provided	GLikely benign
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564598	GRCh37/hg19 19q13.43(chr19:56565455-57401997)x1	ZNF667, ZNF471 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394098	GRCh37/hg19 19q13.43(chr19:56874577-57183789)x3	SMIM17, ZFP28 +8 more	Copy number gain	See cases	GUncertain significance
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64