ClinVar for Gene (Select 26152) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335520	NM_015655.4(ZNF337):c.1001A>G (p.Tyr334Cys)	ZNF337, ZNF337-AS1 (Y334C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335519	NM_015655.4(ZNF337):c.992A>G (p.Asn331Ser)	ZNF337, ZNF337-AS1 (N331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335518	NM_015655.4(ZNF337):c.1732G>A (p.Gly578Arg)	ZNF337, ZNF337-AS1 (G578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335517	NM_015655.4(ZNF337):c.1736G>A (p.Arg579Gln)	ZNF337, ZNF337-AS1 (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195240	NM_015655.4(ZNF337):c.692C>G (p.Thr231Arg)	ZNF337, ZNF337-AS1 (T231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195239	NM_015655.4(ZNF337):c.20G>A (p.Arg7Lys)	ZNF337 (R7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195238	NM_015655.4(ZNF337):c.2063A>G (p.Gln688Arg)	ZNF337, ZNF337-AS1 (Q688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195236	NM_015655.4(ZNF337):c.1891A>G (p.Lys631Glu)	ZNF337, ZNF337-AS1 (K631E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195235	NM_015655.4(ZNF337):c.1786G>A (p.Gly596Arg)	ZNF337, ZNF337-AS1 (G596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195234	NM_015655.4(ZNF337):c.1586C>T (p.Pro529Leu)	ZNF337, ZNF337-AS1 (P529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195233	NM_015655.4(ZNF337):c.1568G>A (p.Arg523Gln)	ZNF337, ZNF337-AS1 (R523Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195232	NM_015655.4(ZNF337):c.1531T>A (p.Leu511Met)	ZNF337, ZNF337-AS1 (L511M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195231	NM_015655.4(ZNF337):c.1400G>A (p.Arg467Gln)	ZNF337, ZNF337-AS1 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195230	NM_015655.4(ZNF337):c.1019G>A (p.Arg340Lys)	ZNF337, ZNF337-AS1 (R340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620006	NM_015655.4(ZNF337):c.988A>G (p.Thr330Ala)	ZNF337, ZNF337-AS1 (T330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612301	NM_015655.4(ZNF337):c.2218C>G (p.Arg740Gly)	ZNF337, ZNF337-AS1 (R740G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607870	NM_015655.4(ZNF337):c.644A>G (p.Gln215Arg)	ZNF337, ZNF337-AS1 (Q215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607497	NM_015655.4(ZNF337):c.1014C>A (p.His338Gln)	ZNF337, ZNF337-AS1 (H338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561197	NM_015655.4(ZNF337):c.445G>A (p.Val149Ile)	ZNF337, ZNF337-AS1 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555550	NM_015655.4(ZNF337):c.2026T>C (p.Trp676Arg)	ZNF337, ZNF337-AS1 (W676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542269	NM_015655.4(ZNF337):c.955C>A (p.Pro319Thr)	ZNF337, ZNF337-AS1 (P319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538511	NM_015655.4(ZNF337):c.862G>C (p.Gly288Arg)	ZNF337, ZNF337-AS1 (G288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533599	NM_015655.4(ZNF337):c.2159G>T (p.Arg720Leu)	ZNF337, ZNF337-AS1 (R720L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532635	NM_015655.4(ZNF337):c.1952C>T (p.Ser651Leu)	ZNF337, ZNF337-AS1 (S651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520040	NM_015655.4(ZNF337):c.955C>G (p.Pro319Ala)	ZNF337, ZNF337-AS1 (P319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517205	NM_015655.4(ZNF337):c.1988A>G (p.Gln663Arg)	ZNF337, ZNF337-AS1 (Q663R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2515882	NM_015655.4(ZNF337):c.1530C>A (p.His510Gln)	ZNF337, ZNF337-AS1 (H510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511150	NM_015655.4(ZNF337):c.922A>G (p.Asn308Asp)	ZNF337, ZNF337-AS1 (N308D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509511	NM_015655.4(ZNF337):c.275G>A (p.Arg92Gln)	ZNF337, ZNF337-AS1 (R92Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509505	NM_015655.4(ZNF337):c.622T>G (p.Phe208Val)	ZNF337, ZNF337-AS1 (F208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483362	NM_015655.4(ZNF337):c.277C>G (p.Pro93Ala)	ZNF337, ZNF337-AS1 (P93A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2466523	NM_015655.4(ZNF337):c.896G>A (p.Arg299Gln)	ZNF337, ZNF337-AS1 (R299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410277	NM_015655.4(ZNF337):c.2219G>A (p.Arg740His)	ZNF337, ZNF337-AS1 (R740H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2401232	NM_015655.4(ZNF337):c.572G>A (p.Arg191Gln)	ZNF337, ZNF337-AS1 (R191Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398113	NM_015655.4(ZNF337):c.1064G>A (p.Arg355Gln)	ZNF337, ZNF337-AS1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382514	NM_015655.4(ZNF337):c.1484G>A (p.Arg495Gln)	ZNF337, ZNF337-AS1 (R495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380163	NM_015655.4(ZNF337):c.2218C>T (p.Arg740Cys)	ZNF337, ZNF337-AS1 (R740C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379884	NM_015655.4(ZNF337):c.970G>C (p.Glu324Gln)	ZNF337, ZNF337-AS1 (E324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361570	NM_015655.4(ZNF337):c.818A>G (p.Tyr273Cys)	ZNF337, ZNF337-AS1 (Y273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354523	NM_015655.4(ZNF337):c.554G>A (p.Arg185His)	ZNF337, ZNF337-AS1 (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352659	NM_015655.4(ZNF337):c.1342G>A (p.Val448Met)	ZNF337, ZNF337-AS1 (V448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345454	NM_015655.4(ZNF337):c.1325T>A (p.Ile442Asn)	ZNF337, ZNF337-AS1 (I442N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304781	NM_015655.4(ZNF337):c.502G>C (p.Val168Leu)	ZNF337, ZNF337-AS1 (V168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304780	NM_015655.4(ZNF337):c.488C>G (p.Thr163Arg)	ZNF337, ZNF337-AS1 (T163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302354	NM_015655.4(ZNF337):c.1709G>A (p.Arg570Lys)	ZNF337, ZNF337-AS1 (R570K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287095	NM_015655.4(ZNF337):c.1117G>A (p.Glu373Lys)	ZNF337, ZNF337-AS1 (E373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280658	NM_015655.4(ZNF337):c.241C>G (p.Pro81Ala)	ZNF337 (P81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280029	NM_015655.4(ZNF337):c.1130C>T (p.Ala377Val)	ZNF337, ZNF337-AS1 (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279283	NM_015655.4(ZNF337):c.1712C>T (p.Pro571Leu)	ZNF337, ZNF337-AS1 (P571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265901	NM_015655.4(ZNF337):c.1643A>C (p.Gln548Pro)	ZNF337, ZNF337-AS1 (Q548P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265633	NM_015655.4(ZNF337):c.1979T>C (p.Val660Ala)	ZNF337, ZNF337-AS1 (V660A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253159	NM_015655.4(ZNF337):c.239G>A (p.Gly80Asp)	ZNF337 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244836	NM_015655.4(ZNF337):c.1236C>A (p.Ser412Arg)	ZNF337, ZNF337-AS1 (S412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238077	NM_015655.4(ZNF337):c.592C>T (p.His198Tyr)	ZNF337, ZNF337-AS1 (H198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218433	NM_015655.4(ZNF337):c.1166G>T (p.Gly389Val)	ZNF337, ZNF337-AS1 (G389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809464	GRCh37/hg19 20p11.21-11.1(chr20:25208244-25734692)x3	ABHD12, GINS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 688065	GRCh37/hg19 20p11.21-11.1(chr20:25496752-25657484)x1	NANP, NINL +1 more	Copy number loss	not provided	GUncertain significance
Select item 688064	GRCh37/hg19 20p11.21-11.1(chr20:25496752-25657484)x1	NANP, NINL +1 more	Copy number loss	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 493607	GRCh37/hg19 20p11.21-11.1(chr20:25506885-25732554)x3	NANP, NINL +1 more	Copy number gain	not provided	GLikely benign
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253759	GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3	NINL, VSX1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79