ClinVar for Gene (Select 342933) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260107	NM_001080456.5(ZSCAN5B):c.535G>A (p.Ala179Thr)	ZSCAN5B (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260106	NM_001080456.5(ZSCAN5B):c.520C>T (p.Pro174Ser)	ZSCAN5B (P174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260105	NM_001080456.5(ZSCAN5B):c.127T>A (p.Trp43Arg)	ZSCAN5B (W43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260104	NM_001080456.5(ZSCAN5B):c.1307A>G (p.Glu436Gly)	ZSCAN5B (E436G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260103	NM_001080456.5(ZSCAN5B):c.1392G>C (p.Glu464Asp)	ZSCAN5B (E464D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260102	NM_001080456.5(ZSCAN5B):c.568G>A (p.Ala190Thr)	ZSCAN5B (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199490	NM_001080456.5(ZSCAN5B):c.853G>A (p.Gly285Arg)	ZSCAN5B (G285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199489	NM_001080456.5(ZSCAN5B):c.779G>T (p.Arg260Ile)	ZSCAN5B (R260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199487	NM_001080456.5(ZSCAN5B):c.656A>G (p.Gln219Arg)	ZSCAN5B (Q219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199486	NM_001080456.5(ZSCAN5B):c.611A>G (p.Lys204Arg)	ZSCAN5B (K204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199485	NM_001080456.5(ZSCAN5B):c.568G>C (p.Ala190Pro)	ZSCAN5B (A190P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199483	NM_001080456.5(ZSCAN5B):c.454G>A (p.Ala152Thr)	ZSCAN5B (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199482	NM_001080456.5(ZSCAN5B):c.436G>A (p.Glu146Lys)	ZSCAN5B (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199481	NM_001080456.5(ZSCAN5B):c.40C>T (p.Pro14Ser)	ZSCAN5B (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199480	NM_001080456.5(ZSCAN5B):c.38G>A (p.Gly13Glu)	ZSCAN5B (G13E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199478	NM_001080456.5(ZSCAN5B):c.1450C>T (p.Arg484Cys)	ZSCAN5B (R484C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199477	NM_001080456.5(ZSCAN5B):c.1310G>A (p.Arg437Lys)	ZSCAN5B (R437K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199476	NM_001080456.5(ZSCAN5B):c.1205A>C (p.Gln402Pro)	ZSCAN5B (Q402P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199475	NM_001080456.5(ZSCAN5B):c.1171C>T (p.Arg391Cys)	ZSCAN5B (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199474	NM_001080456.5(ZSCAN5B):c.1132A>G (p.Thr378Ala)	ZSCAN5B (T378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199473	NM_001080456.5(ZSCAN5B):c.1118A>G (p.His373Arg)	ZSCAN5B (H373R)	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 2650555	NM_001080456.5(ZSCAN5B):c.159A>G (p.Pro53=)	ZSCAN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650554	NM_001080456.5(ZSCAN5B):c.972A>G (p.Pro324=)	ZSCAN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620205	NM_001080456.5(ZSCAN5B):c.949C>T (p.Pro317Ser)	ZSCAN5B (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607069	NM_001080456.5(ZSCAN5B):c.617T>C (p.Ile206Thr)	ZSCAN5B (I206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593326	NM_001080456.5(ZSCAN5B):c.857A>G (p.Asn286Ser)	ZSCAN5B (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560108	NM_001080456.5(ZSCAN5B):c.895A>G (p.Ser299Gly)	ZSCAN5B (S299G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536343	NM_001080456.5(ZSCAN5B):c.1133C>G (p.Thr378Arg)	ZSCAN5B (T378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529641	NM_001080456.5(ZSCAN5B):c.1261G>A (p.Ala421Thr)	ZSCAN5B (A421T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528448	NM_001080456.5(ZSCAN5B):c.1153T>C (p.Cys385Arg)	ZSCAN5B (C385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527717	NM_001080456.5(ZSCAN5B):c.1253A>C (p.Lys418Thr)	ZSCAN5B (K418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487696	NM_001080456.5(ZSCAN5B):c.55G>C (p.Gly19Arg)	ZSCAN5B (G19R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470611	NM_001080456.5(ZSCAN5B):c.1052C>A (p.Ala351Asp)	ZSCAN5B (A351D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470610	NM_001080456.5(ZSCAN5B):c.1046C>T (p.Ala349Val)	ZSCAN5B (A349V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469556	NM_001080456.5(ZSCAN5B):c.1429C>T (p.Arg477Cys)	ZSCAN5B (R477C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463330	NM_001080456.5(ZSCAN5B):c.149T>A (p.Phe50Tyr)	ZSCAN5B (F50Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398115	NM_001080456.5(ZSCAN5B):c.1313C>T (p.Pro438Leu)	ZSCAN5B (P438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395871	NM_001080456.5(ZSCAN5B):c.403G>A (p.Gly135Ser)	ZSCAN5B (G135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386234	NM_001080456.5(ZSCAN5B):c.842T>C (p.Leu281Ser)	ZSCAN5B (L281S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383201	NM_001080456.5(ZSCAN5B):c.1214A>G (p.His405Arg)	ZSCAN5B (H405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380529	NM_001080456.5(ZSCAN5B):c.1385C>T (p.Ser462Phe)	ZSCAN5B (S462F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379160	NM_001080456.5(ZSCAN5B):c.998A>G (p.His333Arg)	ZSCAN5B (H333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374790	NM_001080456.5(ZSCAN5B):c.960C>A (p.Asn320Lys)	ZSCAN5B (N320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369680	NM_001080456.5(ZSCAN5B):c.1303G>C (p.Gly435Arg)	ZSCAN5B (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360112	NM_001080456.5(ZSCAN5B):c.998A>T (p.His333Leu)	ZSCAN5B (H333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359607	NM_001080456.5(ZSCAN5B):c.286A>G (p.Met96Val)	ZSCAN5B (M96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359117	NM_001080456.5(ZSCAN5B):c.883A>T (p.Ser295Cys)	ZSCAN5B (S295C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359116	NM_001080456.5(ZSCAN5B):c.882C>A (p.Ser294Arg)	ZSCAN5B (S294R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357919	NM_001080456.5(ZSCAN5B):c.916A>G (p.Ile306Val)	ZSCAN5B (I306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348078	NM_001080456.5(ZSCAN5B):c.1451G>A (p.Arg484His)	ZSCAN5B (R484H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333790	NM_001080456.5(ZSCAN5B):c.497C>T (p.Ala166Val)	ZSCAN5B (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322612	NM_001080456.5(ZSCAN5B):c.373C>T (p.Pro125Ser)	ZSCAN5B (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322262	NM_001080456.5(ZSCAN5B):c.371G>T (p.Arg124Ile)	ZSCAN5B (R124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317261	NM_001080456.5(ZSCAN5B):c.394A>T (p.Asn132Tyr)	ZSCAN5B (N132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307293	NM_001080456.5(ZSCAN5B):c.868G>T (p.Ala290Ser)	ZSCAN5B (A290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295990	NM_001080456.5(ZSCAN5B):c.677A>G (p.Lys226Arg)	ZSCAN5B (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284135	NM_001080456.5(ZSCAN5B):c.160G>A (p.Glu54Lys)	ZSCAN5B (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278921	NM_001080456.5(ZSCAN5B):c.62A>G (p.Asp21Gly)	ZSCAN5B (D21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267993	NM_001080456.5(ZSCAN5B):c.1236G>T (p.Met412Ile)	ZSCAN5B (M412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250376	NM_001080456.5(ZSCAN5B):c.243G>T (p.Glu81Asp)	ZSCAN5B (E81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240911	NM_001080456.5(ZSCAN5B):c.467A>G (p.Asp156Gly)	ZSCAN5B (D156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239160	NM_001080456.5(ZSCAN5B):c.542G>A (p.Arg181Gln)	ZSCAN5B (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228509	NM_001080456.5(ZSCAN5B):c.1383C>A (p.His461Gln)	ZSCAN5B (H461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225567	NM_001080456.5(ZSCAN5B):c.983A>G (p.Glu328Gly)	ZSCAN5B (E328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223244	NM_001080456.5(ZSCAN5B):c.1075G>A (p.Val359Met)	ZSCAN5B (V359M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216854	NM_001080456.5(ZSCAN5B):c.1058C>T (p.Pro353Leu)	ZSCAN5B (P353L)	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 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 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 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 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: 99