12635[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 1256854	NM_007124.3(UTRN):c.-92-204T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275590	NM_007124.3(UTRN):c.-1G>A	UTRN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248204	NM_007124.3(UTRN):c.79+294C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188057	NM_007124.3(UTRN):c.80A>G (p.Asp27Gly)	UTRN (D27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151062	GRCh38/hg38 6q24.2(chr6:144418941-144485393)x3	LOC126859819, LOC129997378 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146169	GRCh38/hg38 6q24.2(chr6:144418941-144464407)x3	LOC129997378, LOC132089372 +1 more	Copy number gain	See cases	GLikely benign
Select item 2291848	NM_007124.3(UTRN):c.166A>G (p.Met56Val)	UTRN (M56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215503	NM_007124.3(UTRN):c.168G>A (p.Met56Ile)	UTRN (M56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220628	NM_007124.3(UTRN):c.173C>T (p.Thr58Ile)	UTRN (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331767	NM_007124.3(UTRN):c.215G>C (p.Gly72Ala)	UTRN (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331790	NM_007124.3(UTRN):c.257G>C (p.Arg86Thr)	UTRN (R86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223653	NM_007124.3(UTRN):c.302A>T (p.His101Leu)	UTRN (H101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331787	NM_007124.3(UTRN):c.310A>G (p.Asn104Asp)	LOC132089372, UTRN (N104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360947	NM_007124.3(UTRN):c.341A>G (p.Asp114Gly)	UTRN (D114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298206	NM_007124.3(UTRN):c.362A>G (p.Lys121Arg)	UTRN (K121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 517721	NM_007124.3(UTRN):c.405+3G>A	UTRN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2310001	NM_007124.3(UTRN):c.466C>G (p.Leu156Val)	UTRN (L156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188038	NM_007124.3(UTRN):c.491C>G (p.Thr164Ser)	UTRN (T164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272029	NM_007124.3(UTRN):c.572G>A (p.Arg191Gln)	UTRN (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329092	NM_007124.3(UTRN):c.585T>A (p.Asp195Glu)	UTRN (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188045	NM_007124.3(UTRN):c.634G>A (p.Glu212Lys)	UTRN (E212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733657	NM_007124.3(UTRN):c.687T>C (p.Asp229=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188050	NM_007124.3(UTRN):c.703G>A (p.Val235Ile)	UTRN (V235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331792	NM_007124.3(UTRN):c.722A>T (p.Lys241Ile)	UTRN (K241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291849	NM_007124.3(UTRN):c.790C>T (p.Arg264Cys)	UTRN (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188058	NM_007124.3(UTRN):c.835G>A (p.Glu279Lys)	UTRN (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355593	NM_007124.3(UTRN):c.851T>C (p.Ile284Thr)	UTRN (I284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239528	NM_007124.3(UTRN):c.855+193G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249127	NM_007124.3(UTRN):c.856-205A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508648	NM_007124.3(UTRN):c.964C>A (p.Leu322Met)	UTRN (L322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791267	NM_007124.3(UTRN):c.964C>T (p.Leu322=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511261	NM_007124.3(UTRN):c.1021G>A (p.Asp341Asn)	UTRN (D341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261069	NM_007124.3(UTRN):c.1036A>G (p.Lys346Glu)	UTRN (K346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468281	NM_007124.3(UTRN):c.1086C>G (p.His362Gln)	UTRN (H362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188013	NM_007124.3(UTRN):c.1105G>A (p.Val369Ile)	UTRN (V369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259121	NM_007124.3(UTRN):c.1158A>G (p.Glu386=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188014	NM_007124.3(UTRN):c.1186C>G (p.Leu396Val)	UTRN (L396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275816	NM_007124.3(UTRN):c.1223G>A (p.Ser408Asn)	UTRN (S408N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1231143	NM_007124.3(UTRN):c.1241+247A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3331782	NM_007124.3(UTRN):c.1271A>G (p.Lys424Arg)	UTRN (K424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188015	NM_007124.3(UTRN):c.1318C>T (p.Arg440Cys)	UTRN (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333979	NM_007124.3(UTRN):c.1342C>T (p.Pro448Ser)	UTRN (P448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227624	NM_007124.3(UTRN):c.1393-105A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277196	NM_007124.3(UTRN):c.1393-59G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376792	NM_007124.3(UTRN):c.1447A>C (p.Met483Leu)	UTRN (M483L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1241209	NM_007124.3(UTRN):c.1513-11C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2228076	NM_007124.3(UTRN):c.1543C>T (p.Arg515Cys)	UTRN (R515C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536897	NM_007124.3(UTRN):c.1552G>C (p.Glu518Gln)	UTRN (E518Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365475	NM_007124.3(UTRN):c.1558C>T (p.Arg520Cys)	UTRN (R520C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331791	NM_007124.3(UTRN):c.1610A>G (p.Glu537Gly)	UTRN (E537G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246835	NM_007124.3(UTRN):c.1620G>T (p.Leu540Phe)	UTRN (L540F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188016	NM_007124.3(UTRN):c.1712G>A (p.Arg571Gln)	UTRN (R571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188018	NM_007124.3(UTRN):c.1740G>A (p.Met580Ile)	UTRN (M580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287643	NM_007124.3(UTRN):c.1786G>A (p.Asp596Asn)	UTRN (D596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331776	NM_007124.3(UTRN):c.1817C>T (p.Ala606Val)	UTRN (A606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230002	NM_007124.3(UTRN):c.1902+186A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3331796	NM_007124.3(UTRN):c.1930A>T (p.Met644Leu)	UTRN (M644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597407	NM_007124.3(UTRN):c.1953C>A (p.Asp651Glu)	UTRN (D651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299770	NM_007124.3(UTRN):c.1954C>A (p.Leu652Ile)	UTRN (L652I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348733	NM_007124.3(UTRN):c.1987A>G (p.Ile663Val)	UTRN (I663V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402926	NM_007124.3(UTRN):c.1991C>G (p.Thr664Arg)	UTRN (T664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459639	NM_007124.3(UTRN):c.2020C>A (p.Pro674Thr)	UTRN (P674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206347	NM_007124.3(UTRN):c.2078A>G (p.Asp693Gly)	UTRN (D693G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213405	NM_007124.3(UTRN):c.2125G>A (p.Ala709Thr)	UTRN (A709T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188019	NM_007124.3(UTRN):c.2130T>G (p.Ile710Met)	UTRN (I710M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188020	NM_007124.3(UTRN):c.2163G>T (p.Met721Ile)	UTRN (M721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188021	NM_007124.3(UTRN):c.2164C>G (p.Gln722Glu)	UTRN (Q722E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268374	NM_007124.3(UTRN):c.2196+196T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733691	NM_007124.3(UTRN):c.2197-4G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2292123	NM_007124.3(UTRN):c.2210A>C (p.Glu737Ala)	UTRN (E737A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476575	NM_007124.3(UTRN):c.2299G>A (p.Glu767Lys)	UTRN (E767K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252670	NM_007124.3(UTRN):c.2305A>G (p.Ile769Val)	UTRN (I769V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348434	NM_007124.3(UTRN):c.2311A>C (p.Asn771His)	UTRN (N771H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331777	NM_007124.3(UTRN):c.2330C>T (p.Ser777Leu)	UTRN (S777L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780649	NM_007124.3(UTRN):c.2337A>G (p.Glu779=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594125	NM_007124.3(UTRN):c.2374A>G (p.Arg792Gly)	UTRN (R792G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396972	NM_007124.3(UTRN):c.2449A>G (p.Lys817Glu)	UTRN (K817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188022	NM_007124.3(UTRN):c.2471C>T (p.Thr824Ile)	UTRN (T824I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217288	NM_007124.3(UTRN):c.2491C>T (p.Arg831Trp)	UTRN (R831W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353922	NM_007124.3(UTRN):c.2527C>T (p.Arg843Trp)	UTRN (R843W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710329	NM_007124.3(UTRN):c.2539A>C (p.Asn847His)	UTRN (N847H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2290854	NM_007124.3(UTRN):c.2651G>A (p.Gly884Asp)	UTRN (G884D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771867	NM_007124.3(UTRN):c.2654G>A (p.Arg885His)	UTRN (R885H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3331788	NM_007124.3(UTRN):c.2677G>A (p.Val893Ile)	UTRN (V893I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188023	NM_007124.3(UTRN):c.2687G>A (p.Arg896His)	UTRN (R896H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540317	NM_007124.3(UTRN):c.2696A>G (p.His899Arg)	UTRN (H899R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778924	NM_007124.3(UTRN):c.2746T>C (p.Leu916=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2531792	NM_007124.3(UTRN):c.2774A>T (p.Asp925Val)	UTRN (D925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724092	NM_007124.3(UTRN):c.2837C>T (p.Ala946Val)	UTRN (A946V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3331771	NM_007124.3(UTRN):c.2843A>G (p.Gln948Arg)	UTRN (Q948R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327400	NM_007124.3(UTRN):c.2903C>G (p.Ala968Gly)	UTRN (A968G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472765	NM_007124.3(UTRN):c.2912C>T (p.Thr971Ile)	UTRN (T971I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188024	NM_007124.3(UTRN):c.2925G>C (p.Glu975Asp)	UTRN (E975D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331778	NM_007124.3(UTRN):c.3016A>G (p.Lys1006Glu)	UTRN (K1006E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1290712	NM_007124.3(UTRN):c.3067-71C>T	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2328233	NM_007124.3(UTRN):c.3067G>A (p.Ala1023Thr)	LOC126859819, UTRN (A1023T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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