ClinVar for Gene (Select 83642) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317249	NM_031454.2(SELENOO):c.1483C>T (p.Arg495Trp)	SELENOO (R495W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317247	NM_031454.2(SELENOO):c.376G>T (p.Gly126Cys)	LOC130067823, SELENOO (G126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317246	NM_031454.2(SELENOO):c.349G>C (p.Glu117Gln)	SELENOO (E117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317245	NM_031454.2(SELENOO):c.1200G>C (p.Glu400Asp)	SELENOO (E400D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317244	NM_031454.2(SELENOO):c.1298T>G (p.Leu433Arg)	SELENOO (L433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317243	NM_031454.2(SELENOO):c.1543C>G (p.Gln515Glu)	SELENOO (Q515E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317242	NM_031454.2(SELENOO):c.1986A>T (p.Glu662Asp)	SELENOO (E662D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317241	NM_031454.2(SELENOO):c.1357G>A (p.Asp453Asn)	SELENOO (D453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317240	NM_031454.2(SELENOO):c.950G>A (p.Arg317His)	SELENOO (R317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317239	NM_031454.2(SELENOO):c.1952C>T (p.Ser651Phe)	SELENOO (S651F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317238	NM_031454.2(SELENOO):c.169G>C (p.Ala57Pro)	LOC130067822, SELENOO (A57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317236	NM_031454.2(SELENOO):c.1561G>A (p.Gly521Ser)	SELENOO (G521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317235	NM_031454.2(SELENOO):c.1042G>A (p.Asp348Asn)	SELENOO (D348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317234	NM_031454.2(SELENOO):c.1750G>A (p.Val584Met)	SELENOO (V584M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317233	NM_031454.2(SELENOO):c.1121C>T (p.Ala374Val)	SELENOO (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159603	NM_031454.2(SELENOO):c.971A>G (p.Glu324Gly)	SELENOO (E324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159602	NM_031454.2(SELENOO):c.959G>A (p.Arg320Gln)	SELENOO (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159601	NM_031454.2(SELENOO):c.946C>G (p.Arg316Gly)	SELENOO (R316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159600	NM_031454.2(SELENOO):c.935G>A (p.Arg312Gln)	SELENOO, SELENOO-AS1 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159599	NM_031454.2(SELENOO):c.85C>T (p.Pro29Ser)	LOC130067822, SELENOO (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159598	NM_031454.2(SELENOO):c.806G>A (p.Arg269His)	SELENOO, SELENOO-AS1 (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159597	NM_031454.2(SELENOO):c.799A>G (p.Thr267Ala)	SELENOO, SELENOO-AS1 (T267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159596	NM_031454.2(SELENOO):c.719A>C (p.Gln240Pro)	SELENOO, SELENOO-AS1 (Q240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159595	NM_031454.2(SELENOO):c.688G>A (p.Val230Met)	SELENOO, SELENOO-AS1 (V230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159594	NM_031454.2(SELENOO):c.685G>A (p.Asp229Asn)	SELENOO, SELENOO-AS1 (D229N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159592	NM_031454.2(SELENOO):c.670T>G (p.Ser224Ala)	SELENOO, SELENOO-AS1 (S224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159591	NM_031454.2(SELENOO):c.5C>T (p.Ala2Val)	LOC130067822, SELENOO (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159590	NM_031454.2(SELENOO):c.592C>T (p.Arg198Trp)	SELENOO, SELENOO-AS1 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159589	NM_031454.2(SELENOO):c.581G>A (p.Arg194Gln)	SELENOO, SELENOO-AS1 (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159588	NM_031454.2(SELENOO):c.550T>C (p.Ser184Pro)	SELENOO (S184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159587	NM_031454.2(SELENOO):c.410C>T (p.Ala137Val)	LOC130067823, SELENOO (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159585	NM_031454.2(SELENOO):c.380A>G (p.Asn127Ser)	LOC130067823, SELENOO (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159584	NM_031454.2(SELENOO):c.376G>A (p.Gly126Ser)	LOC130067823, SELENOO (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159583	NM_031454.2(SELENOO):c.361G>T (p.Ala121Ser)	SELENOO (A121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159582	NM_031454.2(SELENOO):c.319G>A (p.Gly107Ser)	SELENOO (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159581	NM_031454.2(SELENOO):c.305C>T (p.Ala102Val)	SELENOO (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159580	NM_031454.2(SELENOO):c.300G>T (p.Glu100Asp)	SELENOO (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159579	NM_031454.2(SELENOO):c.281G>A (p.Arg94His)	SELENOO (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159578	NM_031454.2(SELENOO):c.26G>A (p.Gly9Glu)	LOC130067822, SELENOO (G9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159577	NM_031454.2(SELENOO):c.25G>C (p.Gly9Arg)	LOC130067822, SELENOO (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159576	NM_031454.2(SELENOO):c.22C>G (p.Leu8Val)	LOC130067822, SELENOO (L8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159575	NM_031454.2(SELENOO):c.209C>T (p.Ala70Val)	LOC130067822, SELENOO (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159574	NM_031454.2(SELENOO):c.1990T>C (p.Cys664Arg)	SELENOO (C664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159573	NM_031454.2(SELENOO):c.1954T>C (p.Tyr652His)	SELENOO (Y652H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159572	NM_031454.2(SELENOO):c.1919C>T (p.Thr640Met)	SELENOO (T640M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159571	NM_031454.2(SELENOO):c.1884C>G (p.His628Gln)	SELENOO (H628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159570	NM_031454.2(SELENOO):c.1853G>A (p.Arg618Gln)	SELENOO (R618Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159569	NM_031454.2(SELENOO):c.1834G>C (p.Asp612His)	SELENOO (D612H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159568	NM_031454.2(SELENOO):c.1813A>T (p.Ile605Phe)	SELENOO (I605F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159567	NM_031454.2(SELENOO):c.1768A>G (p.Asn590Asp)	SELENOO (N590D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159566	NM_031454.2(SELENOO):c.1765G>A (p.Ala589Thr)	SELENOO (A589T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159565	NM_031454.2(SELENOO):c.1756G>A (p.Val586Met)	SELENOO (V586M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159564	NM_031454.2(SELENOO):c.1754G>A (p.Arg585His)	SELENOO (R585H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159563	NM_031454.2(SELENOO):c.1753C>T (p.Arg585Cys)	SELENOO (R585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159562	NM_031454.2(SELENOO):c.1747C>G (p.His583Asp)	SELENOO (H583D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159560	NM_031454.2(SELENOO):c.1732G>A (p.Ala578Thr)	SELENOO (A578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159559	NM_031454.2(SELENOO):c.1717G>A (p.Ala573Thr)	SELENOO (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159558	NM_031454.2(SELENOO):c.1704G>C (p.Lys568Asn)	SELENOO (K568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159557	NM_031454.2(SELENOO):c.1694G>A (p.Arg565Gln)	SELENOO (R565Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159556	NM_031454.2(SELENOO):c.1682C>T (p.Ala561Val)	SELENOO (A561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159555	NM_031454.2(SELENOO):c.1631C>T (p.Ala544Val)	SELENOO (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159554	NM_031454.2(SELENOO):c.1595G>A (p.Arg532His)	SELENOO (R532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159552	NM_031454.2(SELENOO):c.1553C>T (p.Ala518Val)	SELENOO (A518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159551	NM_031454.2(SELENOO):c.1445A>G (p.Glu482Gly)	SELENOO (E482G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159550	NM_031454.2(SELENOO):c.128G>C (p.Arg43Pro)	LOC130067822, SELENOO (R43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159549	NM_031454.2(SELENOO):c.1285G>T (p.Val429Leu)	SELENOO (V429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159548	NM_031454.2(SELENOO):c.1285G>A (p.Val429Met)	SELENOO (V429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159547	NM_031454.2(SELENOO):c.1234G>C (p.Ala412Pro)	SELENOO (A412P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159546	NM_031454.2(SELENOO):c.1171G>A (p.Glu391Lys)	SELENOO (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159545	NM_031454.2(SELENOO):c.1138G>A (p.Glu380Lys)	SELENOO (E380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159544	NM_031454.2(SELENOO):c.112A>G (p.Met38Val)	LOC130067822, SELENOO (M38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159543	NM_031454.2(SELENOO):c.1114C>T (p.Arg372Cys)	SELENOO (R372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159541	NM_031454.2(SELENOO):c.1102G>A (p.Asp368Asn)	SELENOO (D368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159540	NM_031454.2(SELENOO):c.1081G>A (p.Asp361Asn)	SELENOO (D361N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159539	NM_031454.2(SELENOO):c.1012G>A (p.Asp338Asn)	SELENOO (D338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159538	NM_031454.2(SELENOO):c.1000G>A (p.Val334Met)	SELENOO (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653369	NM_031454.2(SELENOO):c.1824C>T (p.Ala608=)	SELENOO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653368	NM_031454.2(SELENOO):c.880G>A (p.Glu294Lys)	SELENOO, SELENOO-AS1 (E294K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653367	NM_031454.2(SELENOO):c.105C>G (p.Gly35=)	LOC130067822, SELENOO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620873	NM_031454.2(SELENOO):c.160G>T (p.Ala54Ser)	LOC130067822, SELENOO (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611243	NM_031454.2(SELENOO):c.671C>T (p.Ser224Phe)	SELENOO, SELENOO-AS1 (S224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603760	NM_031454.2(SELENOO):c.958C>T (p.Arg320Trp)	SELENOO (R320W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594046	NM_031454.2(SELENOO):c.503G>A (p.Gly168Asp)	SELENOO (G168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590810	NM_031454.2(SELENOO):c.263C>T (p.Thr88Ile)	SELENOO (T88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2569517	NM_031454.2(SELENOO):c.499A>G (p.Thr167Ala)	SELENOO (T167A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568437	NM_031454.2(SELENOO):c.345G>T (p.Glu115Asp)	SELENOO (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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