PSORS1C1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2446051	Single allele	C6orf15, CDSN +1 more	Deletion	Peeling skin syndrome 1	GPathogenic
Select item 1266446	NM_001264.5(CDSN):c.*146C>T	CDSN, PSORS1C1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1227115	NM_001264.5(CDSN):c.*138C>T	CDSN, PSORS1C1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1230203	NM_001264.5(CDSN):c.*73T>G	CDSN, PSORS1C1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1302787	NM_001264.5(CDSN):c.1589AAG[1] (p.Ter530=)	CDSN, PSORS1C1	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 1976622	NM_001264.5(CDSN):c.1580del (p.Asn527fs)	CDSN, PSORS1C1 (N527fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1209846	NM_001264.5(CDSN):c.1579A>G (p.Asn527Asp)	CDSN, PSORS1C1 (N527D)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1 +1 more	GBenign
Select item 1307196	NM_001264.5(CDSN):c.1567G>A (p.Gly523Arg)	CDSN, PSORS1C1 (G523R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2191245	NM_001264.5(CDSN):c.1532C>T (p.Pro511Leu)	CDSN, PSORS1C1 (P511L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1551918	NM_001264.5(CDSN):c.1526T>C (p.Leu509Pro)	CDSN, PSORS1C1 (L509P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 716000	NM_001264.5(CDSN):c.1525C>T (p.Leu509=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	Peeling skin syndrome 1 +2 more	GBenign/Likely benign
Select item 3265618	NM_001264.5(CDSN):c.1522C>A (p.Pro508Thr)	CDSN, PSORS1C1 (P508T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2067270	NM_001264.5(CDSN):c.1516G>A (p.Val506Met)	CDSN, PSORS1C1 (V506M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2732142	NM_001264.5(CDSN):c.1515A>G (p.Gln505=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1978884	NM_001264.5(CDSN):c.1498C>T (p.Arg500Trp)	CDSN, PSORS1C1 (R500W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 634463	NM_001264.5(CDSN):c.1490G>A (p.Arg497His)	CDSN, PSORS1C1 (R497H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 802195	NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser)	CDSN, PSORS1C1 (G487S)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1	GLikely pathogenic
Select item 391650	NM_001264.5(CDSN):c.1447G>A (p.Ala483Thr)	CDSN, PSORS1C1 (A483T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1388026	NM_001264.5(CDSN):c.1444G>A (p.Gly482Ser)	CDSN, PSORS1C1 (G482S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2392544	NM_001264.5(CDSN):c.1441G>A (p.Ala481Thr)	CDSN, PSORS1C1 (A481T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1918877	NM_001264.5(CDSN):c.1441G>T (p.Ala481Ser)	CDSN, PSORS1C1 (A481S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 724193	NM_001264.5(CDSN):c.1413C>T (p.Pro471=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2463530	NM_001264.5(CDSN):c.1412C>T (p.Pro471Leu)	CDSN, PSORS1C1 (P471L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1967420	NM_001264.5(CDSN):c.1364del (p.Ser455fs)	CDSN, PSORS1C1 (S455fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 802196	NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn)	CDSN, PSORS1C1 (S453N)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1 +1 more	GBenign
Select item 1280864	NM_001264.5(CDSN):c.1344T>C (p.Cys448=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1027849	NM_001264.5(CDSN):c.1340C>T (p.Pro447Leu)	CDSN, PSORS1C1 (P447L)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 2 +2 more	GUncertain significance
Select item 2491422	NM_001264.5(CDSN):c.1320T>A (p.Ser440Arg)	CDSN, PSORS1C1 (S440R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1262139	NM_001264.5(CDSN):c.1317C>G (p.Ser439=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1174929	NM_001264.5(CDSN):c.1317C>A (p.Ser439=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2515821	NM_001264.5(CDSN):c.1310C>T (p.Ser437Phe)	CDSN, PSORS1C1 (S437F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788855	NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg)	CDSN, PSORS1C1 (S434R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2296289	NM_001264.5(CDSN):c.1286G>T (p.Gly429Val)	CDSN, PSORS1C1 (G429V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3350212	NM_001264.5(CDSN):c.1268G>C (p.Cys423Ser)	CDSN, PSORS1C1 (C423S)	Single nucleotide variant (missense variant +1 more)	CDSN-related disorder	GUncertain significance
Select item 715338	NM_001264.5(CDSN):c.1233C>T (p.Pro411=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600234	NM_001264.5(CDSN):c.1229T>C (p.Leu410Ser)	CDSN, PSORS1C1 (L410S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1234343	NM_001264.5(CDSN):c.1226G>T (p.Gly409Val)	CDSN, PSORS1C1 (G409V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1236988	NM_001264.5(CDSN):c.1222T>G (p.Ser408Ala)	CDSN, PSORS1C1 (S408A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1567401	NM_001264.5(CDSN):c.1201A>G (p.Ser401Gly)	CDSN, PSORS1C1 (S401G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1941639	NM_001264.5(CDSN):c.1200C>T (p.Ser400=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 450354	NM_001264.5(CDSN):c.1174T>C (p.Ser392Pro)	CDSN, PSORS1C1 (S392P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 747840	NM_001264.5(CDSN):c.1148G>A (p.Gly383Asp)	CDSN, PSORS1C1 (G383D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1601246	NM_001264.5(CDSN):c.1104A>G (p.Ala368=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3141737	NM_001264.5(CDSN):c.1094C>T (p.Ser365Leu)	CDSN, PSORS1C1 (S365L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790729	NM_001264.5(CDSN):c.1059C>T (p.Ser353=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2768155	NM_001264.5(CDSN):c.1004G>C (p.Gly335Ala)	CDSN, PSORS1C1 (G335A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643739	NM_001264.5(CDSN):c.957C>T (p.Tyr319=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2768794	NM_001264.5(CDSN):c.941G>C (p.Ser314Thr)	CDSN, PSORS1C1 (S314T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3141739	NM_001264.5(CDSN):c.937T>A (p.Tyr313Asn)	CDSN, PSORS1C1 (Y313N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728286	NM_001264.5(CDSN):c.903C>T (p.Gly301=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1049878	NM_001264.5(CDSN):c.870C>A (p.Asp290Glu)	CDSN, PSORS1C1 (D290E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2663490	NM_001264.5(CDSN):c.857T>C (p.Ile286Thr)	CDSN, PSORS1C1 (I286T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898544	NM_001264.5(CDSN):c.844C>A (p.Pro282Thr)	CDSN, PSORS1C1 (P282T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2592714	NM_001264.5(CDSN):c.821G>A (p.Ser274Asn)	CDSN, PSORS1C1 (S274N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318508	NM_001264.5(CDSN):c.787G>C (p.Gly263Arg)	CDSN, PSORS1C1 (G263R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164867	NM_001264.5(CDSN):c.765G>A (p.Val255=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1237033	NM_001264.5(CDSN):c.753G>A (p.Arg251=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3265619	NM_001264.5(CDSN):c.746G>A (p.Gly249Asp)	CDSN, PSORS1C1 (G249D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 157563	NM_001264.5(CDSN):c.746del (p.Gly249fs)	CDSN, PSORS1C1 (G249fs)	Deletion (frameshift variant +1 more)	Peeling skin syndrome 1	GPathogenic
Select item 3141738	NM_001264.5(CDSN):c.709G>A (p.Gly237Ser)	CDSN, PSORS1C1 (G237S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1275564	NM_001264.5(CDSN):c.708C>T (p.Ser236=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2160311	NM_001264.5(CDSN):c.702G>A (p.Ser234=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782002	NM_001264.5(CDSN):c.678C>T (p.Pro226=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2360434	NM_001264.5(CDSN):c.676C>T (p.Pro226Ser)	CDSN, PSORS1C1 (P226S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2051005	NM_001264.5(CDSN):c.669C>T (p.Pro223=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2460548	NM_001264.5(CDSN):c.643C>A (p.Gln215Lys)	CDSN, PSORS1C1 (Q215K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 6997	NM_001264.5(CDSN):c.643C>T (p.Gln215Ter)	CDSN, PSORS1C1 (Q215*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 2	GPathogenic
Select item 3265620	NM_001264.5(CDSN):c.635G>A (p.Ser212Asn)	CDSN, PSORS1C1 (S212N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1231588	NM_001264.5(CDSN):c.605T>C (p.Phe202Ser)	CDSN, PSORS1C1 (F202S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1598649	NM_001264.5(CDSN):c.600G>A (p.Gln200=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 6998	NM_001264.5(CDSN):c.598C>T (p.Gln200Ter)	CDSN, PSORS1C1 (Q200*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 2	GPathogenic
Select item 2632545	NM_001264.5(CDSN):c.583del (p.Ser195fs)	CDSN, PSORS1C1 (S195fs)	Deletion (frameshift variant +1 more)	CDSN-related disorder	GLikely pathogenic
Select item 2068522	NM_001264.5(CDSN):c.575C>T (p.Pro192Leu)	CDSN, PSORS1C1 (P192L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2300993	NM_001264.5(CDSN):c.550C>T (p.Arg184Cys)	CDSN, PSORS1C1 (R184C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716865	NM_001264.5(CDSN):c.536A>G (p.Asn179Ser)	CDSN, PSORS1C1 (N179S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 792826	NM_001264.5(CDSN):c.528G>A (p.Leu176=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2444035	NM_001264.5(CDSN):c.484C>T (p.Gln162Ter)	CDSN, PSORS1C1 (Q162*)	Single nucleotide variant (nonsense +1 more)	Peeling skin syndrome 1	GLikely pathogenic
Select item 2024099	NM_001264.5(CDSN):c.477C>T (p.Ser159=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1499054	NM_001264.5(CDSN):c.475A>G (p.Ser159Gly)	CDSN, PSORS1C1 (S159G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 732112	NM_001264.5(CDSN):c.456C>G (p.Ser152Arg)	CDSN, PSORS1C1 (S152R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2066023	NM_001264.5(CDSN):c.454A>G (p.Ser152Gly)	CDSN, PSORS1C1 (S152G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732113	NM_001264.5(CDSN):c.451A>T (p.Ser151Cys)	CDSN, PSORS1C1 (S151C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2366114	NM_001264.5(CDSN):c.449G>A (p.Ser150Asn)	CDSN, PSORS1C1 (S150N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1673182	NM_001264.5(CDSN):c.447_449del (p.Ser153del)	CDSN, PSORS1C1 (S153del)	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 1544053	NM_001264.5(CDSN):c.428A>G (p.Asn143Ser)	CDSN, PSORS1C1 (N143S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 770166	NM_001264.5(CDSN):c.428= (p.Asn143=)	CDSN, PSORS1C1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 157565	NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)	CDSN, PSORS1C1 (G142*)	Single nucleotide variant (nonsense +1 more)	Peeling skin syndrome 1	GPathogenic
Select item 1461513	NM_001264.5(CDSN):c.388G>C (p.Gly130Arg)	CDSN, PSORS1C1 (G130R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784550	NM_001264.5(CDSN):c.379G>A (p.Gly127Ser)	CDSN, PSORS1C1 (G127S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1518678	NM_001264.5(CDSN):c.368C>G (p.Ser123Cys)	CDSN, PSORS1C1 (S123C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049998	NM_001264.5(CDSN):c.275C>T (p.Ser92Phe)	CDSN, PSORS1C1 (S92F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 711440	NM_001264.5(CDSN):c.256G>A (p.Gly86Ser)	CDSN, PSORS1C1 (G86S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1184405	NM_001264.5(CDSN):c.239G>A (p.Ser80Asn)	CDSN, PSORS1C1 (S80N)	Single nucleotide variant (missense variant +1 more)	Peeling skin syndrome 1	GUncertain significance
Select item 2975335	NM_001264.5(CDSN):c.191_192delinsCC (p.Gly64Ala)	CDSN, PSORS1C1 (G64A)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1572749	NM_001264.5(CDSN):c.192T>C (p.Gly64=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770167	NM_001264.5(CDSN):c.192= (p.Gly64=)	CDSN, PSORS1C1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 30269	NM_001264.5(CDSN):c.175A>T (p.Lys59Ter)	CDSN, PSORS1C1 (K59*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 157564	NM_001264.5(CDSN):c.164_167dup (p.Thr57fs)	CDSN, PSORS1C1 (T57fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1321061	NM_001264.5(CDSN):c.166C>T (p.Leu56Phe)	CDSN, PSORS1C1 (L56F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign

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