ClinVar for Gene (Select 79149) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260101	NM_001322064.3(ZSCAN5A):c.430G>A (p.Asp144Asn)	ZSCAN5A (D14N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260100	NM_001322064.3(ZSCAN5A):c.782T>G (p.Ile261Arg)	ZSCAN5A (I260R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260099	NM_001322064.3(ZSCAN5A):c.773C>T (p.Pro258Leu)	ZSCAN5A (P257L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260098	NM_001322064.3(ZSCAN5A):c.109G>C (p.Asp37His)	ZSCAN5A (D37H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260097	NM_001322064.3(ZSCAN5A):c.371G>C (p.Arg124Thr)	ZSCAN5A (R124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260096	NM_001322064.3(ZSCAN5A):c.286A>G (p.Met96Val)	ZSCAN5A (M96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199471	NM_001322064.3(ZSCAN5A):c.958G>A (p.Gly320Ser)	ZSCAN5A (G190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199470	NM_001322064.3(ZSCAN5A):c.85T>G (p.Ser29Ala)	ZSCAN5A (S29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199469	NM_001322064.3(ZSCAN5A):c.737C>T (p.Pro246Leu)	ZSCAN5A (P116L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199468	NM_001322064.3(ZSCAN5A):c.644T>C (p.Leu215Pro)	ZSCAN5A (L215P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199467	NM_001322064.3(ZSCAN5A):c.639G>C (p.Lys213Asn)	ZSCAN5A (K213N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199465	NM_001322064.3(ZSCAN5A):c.31C>G (p.Leu11Val)	ZSCAN5A (L11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199464	NM_001322064.3(ZSCAN5A):c.167C>T (p.Ser56Leu)	ZSCAN5A (S56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199463	NM_001322064.3(ZSCAN5A):c.1246G>A (p.Val416Ile)	ZSCAN5A (V286I +3 more)	Single nucleotide variant (missense variant)	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 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2593201	NM_001322064.3(ZSCAN5A):c.650C>T (p.Pro217Leu)	ZSCAN5A (P100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591337	NM_001322064.3(ZSCAN5A):c.823T>C (p.Cys275Arg)	ZSCAN5A (C145R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569137	NM_001322064.3(ZSCAN5A):c.856G>A (p.Gly286Arg)	ZSCAN5A (G169R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518791	NM_001322064.3(ZSCAN5A):c.518G>T (p.Arg173Leu)	ZSCAN5A (R43L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516062	NM_001322064.3(ZSCAN5A):c.1034C>T (p.Pro345Leu)	ZSCAN5A (P228L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514109	NM_001322064.3(ZSCAN5A):c.622G>A (p.Val208Ile)	ZSCAN5A (V78I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509238	NM_001322064.3(ZSCAN5A):c.271C>G (p.Gln91Glu)	ZSCAN5A (Q91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490279	NM_001322064.3(ZSCAN5A):c.641C>T (p.Ser214Phe)	ZSCAN5A (S97F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400280	NM_001322064.3(ZSCAN5A):c.51A>C (p.Arg17Ser)	ZSCAN5A (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400007	NM_001322064.3(ZSCAN5A):c.482T>C (p.Val161Ala)	ZSCAN5A (V161A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398066	NM_001322064.3(ZSCAN5A):c.974C>T (p.Pro325Leu)	ZSCAN5A (P195L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396275	NM_001322064.3(ZSCAN5A):c.890C>T (p.Pro297Leu)	ZSCAN5A (P297L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396274	NM_001322064.3(ZSCAN5A):c.886A>G (p.Ser296Gly)	ZSCAN5A (S179G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392801	NM_001322064.3(ZSCAN5A):c.628G>C (p.Gly210Arg)	ZSCAN5A (G210R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385626	NM_001322064.3(ZSCAN5A):c.436G>C (p.Glu146Gln)	ZSCAN5A (E16Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364208	NM_001322064.3(ZSCAN5A):c.113T>G (p.Val38Gly)	ZSCAN5A (V38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351147	NM_001322064.3(ZSCAN5A):c.469G>T (p.Asp157Tyr)	ZSCAN5A (D40Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334965	NM_001322064.3(ZSCAN5A):c.439A>G (p.Met147Val)	ZSCAN5A (M30V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334579	NM_001322064.3(ZSCAN5A):c.1141G>A (p.Glu381Lys)	ZSCAN5A (E251K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322383	NM_001322064.3(ZSCAN5A):c.371G>T (p.Arg124Ile)	ZSCAN5A (R124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309676	NM_001322064.3(ZSCAN5A):c.932A>G (p.Glu311Gly)	ZSCAN5A (E181G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307239	NM_001322064.3(ZSCAN5A):c.1015G>A (p.Ala339Thr)	ZSCAN5A (A339T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291002	NM_001322064.3(ZSCAN5A):c.871G>A (p.Ala291Thr)	ZSCAN5A (A161T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268394	NM_001322064.3(ZSCAN5A):c.1436G>A (p.Arg479Gln)	ZSCAN5A (R349Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263484	NM_001322064.3(ZSCAN5A):c.118C>T (p.Pro40Ser)	ZSCAN5A (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248344	NM_001322064.3(ZSCAN5A):c.928G>A (p.Glu310Lys)	ZSCAN5A (E193K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246609	NM_001322064.3(ZSCAN5A):c.1349C>G (p.Thr450Ser)	ZSCAN5A (T333S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241351	NM_001322064.3(ZSCAN5A):c.1481C>T (p.Thr494Ile)	ZSCAN5A (T494I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240270	NM_001322064.3(ZSCAN5A):c.1175G>A (p.Arg392His)	ZSCAN5A (R262H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239429	NM_001322064.3(ZSCAN5A):c.458G>A (p.Ser153Asn)	ZSCAN5A (S153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217161	NM_001322064.3(ZSCAN5A):c.1045G>A (p.Glu349Lys)	ZSCAN5A (E219K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808053	GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3	GALP, NLRP11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1341084	GRCh37/hg19 19q13.43(chr19:56701425-56777707)x1	ZSCAN5A, ZSCAN5B	Copy number loss	not provided	GUncertain significance
Select item 980776	GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3	GALP, NLRP13 +10 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 816095	GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3	ZSCAN5B, GALP +10 more	Copy number gain	not provided	GUncertain significance
Select item 769056	NM_001322064.3(ZSCAN5A):c.-127-3205G>C	ZSCAN5A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
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 425538	GRCh37/hg19 19q13.43(chr19:56463675-56918488)x3	GALP, NLRP5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 394511	GRCh37/hg19 19q13.43(chr19:56573129-56736675)x3	ZNF787, ZSCAN5A +4 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 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

ClinVar

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Links from Gene

Items: 82