"clinvar_medgen"[Filter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205837	NM_001005484.2(OR4F5):c.107A>G (p.Glu36Gly)	OR4F5 (E36G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205581	NM_001005484.2(OR4F5):c.396G>A (p.Met132Ile)	OR4F5 (M132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252161	NM_001005484.2(OR4F5):c.554C>G (p.Pro185Arg)	OR4F5 (P185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396347	NM_001005484.2(OR4F5):c.655G>A (p.Val219Met)	OR4F5 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205582	NM_001005484.2(OR4F5):c.704T>C (p.Ile235Thr)	OR4F5 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1924157	NM_001385641.1(SAMD11):c.542C>G (p.Ser181Cys)	SAMD11 (S181C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543320	NM_001385641.1(SAMD11):c.552C>T (p.Ile184=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069387	NM_001385641.1(SAMD11):c.557A>T (p.Gln186Leu)	SAMD11 (Q186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648427	NM_001385641.1(SAMD11):c.565C>T (p.Pro189Ser)	SAMD11 (P10S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1362713	NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr)	SAMD11 (I191T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1936488	NM_001385641.1(SAMD11):c.576C>T (p.Cys192=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568423	NM_001385641.1(SAMD11):c.582C>T (p.Cys194=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365270	NM_001385641.1(SAMD11):c.599C>T (p.Ser200Phe)	SAMD11 (S21F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632958	NM_001385641.1(SAMD11):c.606G>T (p.Pro202=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377425	NM_001385641.1(SAMD11):c.609+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1979359	NM_001385641.1(SAMD11):c.609+5G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1555362	NM_001385641.1(SAMD11):c.609+12G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957935	NM_001385641.1(SAMD11):c.609+13G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089674	NM_001385641.1(SAMD11):c.609+13G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561208	NM_001385641.1(SAMD11):c.609+14C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624593	NM_001385641.1(SAMD11):c.609+16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541757	NM_001385641.1(SAMD11):c.610-19T>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658573	NM_001385641.1(SAMD11):c.610-13_610-11del	SAMD11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1125147	NM_001385641.1(SAMD11):c.610-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502618	NM_001385641.1(SAMD11):c.613C>T (p.Arg205Trp)	SAMD11 (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547384	NM_001385641.1(SAMD11):c.618G>A (p.Gly206=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923853	NM_001385641.1(SAMD11):c.619C>T (p.Arg207Trp)	SAMD11 (R207W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164676	NM_001385641.1(SAMD11):c.620G>A (p.Arg207Gln)	SAMD11 (R207Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1365924	NM_001385641.1(SAMD11):c.641T>C (p.Val214Ala)	SAMD11 (V35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144630	NM_001385641.1(SAMD11):c.642C>T (p.Val214=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 846933	NM_001385641.1(SAMD11):c.643G>A (p.Ala215Thr)	SAMD11 (A36T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478180	NM_001385641.1(SAMD11):c.644C>T (p.Ala215Val)	SAMD11 (A36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380424	NM_001385641.1(SAMD11):c.650C>G (p.Pro217Arg)	SAMD11 (P217R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354167	NM_001385641.1(SAMD11):c.650C>T (p.Pro217Leu)	SAMD11 (P38L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095790	NM_001385641.1(SAMD11):c.654C>T (p.Ala218=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043045	NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr)	SAMD11 (A219T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2012623	NM_001385641.1(SAMD11):c.656C>T (p.Ala219Val)	SAMD11 (A219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972363	NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp)	SAMD11 (R41W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1170208	NM_001385641.1(SAMD11):c.659G>A (p.Arg220Gln)	SAMD11 (R220Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1653547	NM_001385641.1(SAMD11):c.664C>T (p.Leu222=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059344	NM_001385641.1(SAMD11):c.667AAG[1] (p.Lys224del)	SAMD11 (K45del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1409578	NM_001385641.1(SAMD11):c.670A>G (p.Lys224Glu)	SAMD11 (K224E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523336	NM_001385641.1(SAMD11):c.673G>A (p.Glu225Lys)	SAMD11 (E225K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667751	NM_001385641.1(SAMD11):c.675G>A (p.Glu225=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133131	NM_001385641.1(SAMD11):c.676C>T (p.Arg226Ter)	SAMD11 (R47* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 998906	NM_001385641.1(SAMD11):c.677_682delinsTTCTTCTG (p.Arg226fs)	SAMD11 (R226fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2081213	NM_001385641.1(SAMD11):c.681T>G (p.Thr227=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1715702	NM_001385641.1(SAMD11):c.683C>G (p.Pro228Arg)	SAMD11 (P228R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122561	NM_001385641.1(SAMD11):c.685A>G (p.Ser229Gly)	SAMD11 (S229G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876353	NM_001385641.1(SAMD11):c.690C>T (p.Phe230=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497763	NM_001385641.1(SAMD11):c.698G>A (p.Ser233Asn)	SAMD11 (S233N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131472	NM_001385641.1(SAMD11):c.700G>A (p.Asp234Asn)	SAMD11 (D234N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1145077	NM_001385641.1(SAMD11):c.702T>C (p.Asp234=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789256	NM_001385641.1(SAMD11):c.703G>A (p.Gly235Ser)	SAMD11 (G56S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2998369	NM_001385641.1(SAMD11):c.711C>T (p.Ser237=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652015	NM_001385641.1(SAMD11):c.714C>T (p.Asp238=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499045	NM_001385641.1(SAMD11):c.715G>A (p.Gly239Arg)	SAMD11 (G239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473769	NM_001385641.1(SAMD11):c.716G>C (p.Gly239Ala)	SAMD11 (G239A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534041	NM_001385641.1(SAMD11):c.717G>A (p.Gly239=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919925	NM_001385641.1(SAMD11):c.720T>C (p.Ser240=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368373	NM_001385641.1(SAMD11):c.720T>G (p.Ser240Arg)	SAMD11 (S61R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672121	NM_001385641.1(SAMD11):c.729C>T (p.Thr243=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969662	NM_001385641.1(SAMD11):c.730T>G (p.Cys244Gly)	SAMD11 (C65G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993184	NM_001385641.1(SAMD11):c.734G>A (p.Gly245Glu)	SAMD11 (G245E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476127	NM_001385641.1(SAMD11):c.736C>T (p.Arg246Trp)	SAMD11 (R67W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140293	NM_001385641.1(SAMD11):c.737G>A (p.Arg246Gln)	SAMD11 (R246Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1435698	NM_001385641.1(SAMD11):c.739C>T (p.Arg247Trp)	SAMD11 (R247W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165489	NM_001385641.1(SAMD11):c.740G>A (p.Arg247Gln)	SAMD11 (R247Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1646781	NM_001385641.1(SAMD11):c.747C>G (p.Gly249=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505398	NM_001385641.1(SAMD11):c.767C>G (p.Pro256Arg)	SAMD11 (P77R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484446	NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu)	SAMD11 (P77L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1671776	NM_001385641.1(SAMD11):c.768G>A (p.Pro256=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170010	NM_001385641.1(SAMD11):c.769C>T (p.His257Tyr)	SAMD11 (H257Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1547483	NM_001385641.1(SAMD11):c.771C>T (p.His257=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002057	NM_001385641.1(SAMD11):c.772A>G (p.Ile258Val)	SAMD11 (I258V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1359546	NM_001385641.1(SAMD11):c.775C>G (p.Arg259Gly)	SAMD11 (R259G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099322	NM_001385641.1(SAMD11):c.775C>T (p.Arg259Cys)	SAMD11 (R259C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1478458	NM_001385641.1(SAMD11):c.776G>T (p.Arg259Leu)	SAMD11 (R259L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002043	NM_001385641.1(SAMD11):c.776G>A (p.Arg259His)	SAMD11 (R259H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367641	NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val)	SAMD11 (I260V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157634	NM_001385641.1(SAMD11):c.779T>C (p.Ile260Thr)	SAMD11 (I260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1168187	NM_001385641.1(SAMD11):c.780C>T (p.Ile260=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157635	NM_001385641.1(SAMD11):c.782T>C (p.Met261Thr)	SAMD11 (M261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2025454	NM_001385641.1(SAMD11):c.784_785del (p.Lys262fs)	SAMD11 (K83fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1445934	NM_001385641.1(SAMD11):c.785A>C (p.Lys262Thr)	SAMD11 (K262T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843786	NM_001385641.1(SAMD11):c.791G>A (p.Arg264Lys)	SAMD11 (R85K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934773	NM_001385641.1(SAMD11):c.791+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2028428	NM_001385641.1(SAMD11):c.791+7G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1107141	NM_001385641.1(SAMD11):c.791+7G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1130596	NM_001385641.1(SAMD11):c.791+10C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528916	NM_001385641.1(SAMD11):c.791+11C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061914	NM_001385641.1(SAMD11):c.791+17C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922782	NM_001385641.1(SAMD11):c.791+18G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547770	NM_001385641.1(SAMD11):c.792-17T>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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