ClinVar for Gene (Select 7461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3145844	NM_003388.5(CLIP2):c.794C>T (p.Ala265Val)	CLIP2 (A265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145843	NM_003388.5(CLIP2):c.700G>A (p.Val234Met)	CLIP2 (V234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145842	NM_003388.5(CLIP2):c.650A>G (p.Lys217Arg)	CLIP2 (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145841	NM_003388.5(CLIP2):c.571G>A (p.Val191Ile)	CLIP2 (V191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145840	NM_003388.5(CLIP2):c.556C>T (p.Pro186Ser)	CLIP2 (P186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145839	NM_003388.5(CLIP2):c.497C>T (p.Ala166Val)	CLIP2 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145838	NM_003388.5(CLIP2):c.481G>A (p.Val161Met)	CLIP2 (V161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145837	NM_003388.5(CLIP2):c.479C>G (p.Ser160Cys)	CLIP2 (S160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145836	NM_003388.5(CLIP2):c.412A>C (p.Ile138Leu)	CLIP2 (I138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145835	NM_003388.5(CLIP2):c.40G>A (p.Gly14Arg)	CLIP2 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145833	NM_003388.5(CLIP2):c.2929C>T (p.Arg977Trp)	CLIP2 (R942W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145832	NM_003388.5(CLIP2):c.2759A>G (p.Asn920Ser)	CLIP2 (N920S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145831	NM_003388.5(CLIP2):c.2623C>T (p.Arg875Trp)	CLIP2 (R840W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145830	NM_003388.5(CLIP2):c.2353G>A (p.Glu785Lys)	CLIP2 (E750K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145829	NM_003388.5(CLIP2):c.2278G>A (p.Glu760Lys)	CLIP2 (E760K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145828	NM_003388.5(CLIP2):c.2173C>T (p.Arg725Cys)	CLIP2 (R725C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145827	NM_003388.5(CLIP2):c.2142C>G (p.His714Gln)	CLIP2 (H714Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145826	NM_003388.5(CLIP2):c.211G>C (p.Val71Leu)	CLIP2 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145825	NM_003388.5(CLIP2):c.2011C>T (p.His671Tyr)	CLIP2 (H636Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145824	NM_003388.5(CLIP2):c.1835A>C (p.Asn612Thr)	CLIP2 (N577T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062985	GRCh37/hg19 7q11.23(chr7:73808319-74142256)x3	CLIP2, GTF2I +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 3026298	NM_003388.5(CLIP2):c.2499C>T (p.Asn833=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025201	NM_003388.5(CLIP2):c.2351G>A (p.Arg784Gln)	CLIP2 (R749Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2673106	NM_003388.5(CLIP2):c.354C>T (p.Gly118=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657594	NM_003388.5(CLIP2):c.2711G>A (p.Arg904Gln)	CLIP2 (R869Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657593	NM_003388.5(CLIP2):c.2657G>A (p.Arg886Gln)	CLIP2 (R851Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657592	NM_003388.5(CLIP2):c.2421C>G (p.His807Gln)	CLIP2 (H772Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657591	NM_003388.5(CLIP2):c.2238G>T (p.Ala746=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657590	NM_003388.5(CLIP2):c.1728G>A (p.Ala576=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657589	NM_003388.5(CLIP2):c.679-5G>A	CLIP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657588	NM_003388.5(CLIP2):c.183C>G (p.Pro61=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603059	NM_003388.5(CLIP2):c.1708G>A (p.Ala570Thr)	CLIP2 (A535T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	TBL2, TMEM270 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2550928	NM_003388.5(CLIP2):c.1615G>A (p.Ala539Thr)	CLIP2 (A504T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540444	NM_003388.5(CLIP2):c.2303G>A (p.Arg768Gln)	CLIP2 (R733Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536353	NM_003388.5(CLIP2):c.3131A>T (p.Asp1044Val)	CLIP2 (D1009V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536206	NM_003388.5(CLIP2):c.382C>G (p.Arg128Gly)	CLIP2 (R128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520484	NM_003388.5(CLIP2):c.1938C>G (p.Ile646Met)	CLIP2 (I611M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519389	NM_003388.5(CLIP2):c.382C>A (p.Arg128Ser)	CLIP2 (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518742	NM_003388.5(CLIP2):c.1745G>A (p.Arg582His)	CLIP2 (R582H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2490053	NM_003388.5(CLIP2):c.2059G>A (p.Glu687Lys)	CLIP2 (E652K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488800	NM_003388.5(CLIP2):c.615C>A (p.Asn205Lys)	CLIP2 (N205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461291	NM_003388.5(CLIP2):c.2455A>T (p.Ile819Phe)	CLIP2 (I819F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406201	NM_003388.5(CLIP2):c.2399T>C (p.Leu800Pro)	CLIP2 (L765P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399216	NM_003388.5(CLIP2):c.2926G>A (p.Asp976Asn)	CLIP2 (D941N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370923	NM_003388.5(CLIP2):c.2626C>T (p.Arg876Cys)	CLIP2 (R841C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370786	NM_003388.5(CLIP2):c.2395G>A (p.Ala799Thr)	CLIP2 (A799T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367224	NM_003388.5(CLIP2):c.2819G>A (p.Arg940Gln)	CLIP2 (R940Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362408	NM_003388.5(CLIP2):c.1693G>A (p.Asp565Asn)	CLIP2 (D565N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362149	NM_003388.5(CLIP2):c.1631G>A (p.Arg544Gln)	CLIP2 (R544Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348309	NM_003388.5(CLIP2):c.182C>G (p.Pro61Arg)	CLIP2 (P61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339754	NM_003388.5(CLIP2):c.2102G>A (p.Arg701Gln)	CLIP2 (R701Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337398	NM_003388.5(CLIP2):c.2174G>A (p.Arg725His)	CLIP2 (R690H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330382	NM_003388.5(CLIP2):c.533C>G (p.Pro178Arg)	CLIP2 (P178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323862	NM_003388.5(CLIP2):c.1618G>A (p.Ala540Thr)	CLIP2 (A540T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321920	NM_003388.5(CLIP2):c.3130G>A (p.Asp1044Asn)	CLIP2 (D1044N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318952	NM_003388.5(CLIP2):c.98C>T (p.Ala33Val)	CLIP2 (A33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295381	NM_003388.5(CLIP2):c.1343G>A (p.Arg448His)	CLIP2 (R448H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292165	NM_003388.5(CLIP2):c.2887G>C (p.Glu963Gln)	CLIP2 (E928Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281189	NM_003388.5(CLIP2):c.2569G>C (p.Glu857Gln)	CLIP2 (E822Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269691	NM_003388.5(CLIP2):c.1670A>G (p.Gln557Arg)	CLIP2 (Q522R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256638	NM_003388.5(CLIP2):c.125C>T (p.Ser42Phe)	CLIP2 (S42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237852	NM_003388.5(CLIP2):c.2985C>A (p.Asp995Glu)	CLIP2 (D960E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227703	NM_003388.5(CLIP2):c.2086C>A (p.Leu696Met)	CLIP2 (L661M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222542	NM_003388.5(CLIP2):c.2237C>T (p.Ala746Val)	CLIP2 (A711V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217211	NM_003388.5(CLIP2):c.92C>T (p.Ser31Leu)	CLIP2 (S31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209139	NM_003388.5(CLIP2):c.2936C>T (p.Ser979Leu)	CLIP2 (S979L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208788	NM_003388.5(CLIP2):c.445C>A (p.Pro149Thr)	CLIP2 (P149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341969	GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	BAZ1B, BCL7B +22 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1299073	NM_003388.5(CLIP2):c.2670C>T (p.Asp890=)	CLIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic

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