ClinVar for Gene (Select 170679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311053	NM_014069.3(PSORS1C2):c.206C>T (p.Pro69Leu)	PSORS1C1, PSORS1C2 (P69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3220524	NM_014069.3(PSORS1C2):c.340C>T (p.Pro114Ser)	PSORS1C1, PSORS1C2 (P114S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220523	NM_014068.3(PSORS1C1):c.109C>T (p.Arg37Cys)	PSORS1C1, PSORS1C2 (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 3059991	NM_014068.3(PSORS1C1):c.70C>A (p.Pro24Thr)	PSORS1C1, PSORS1C2 (P24T)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3059976	NM_014068.3(PSORS1C1):c.127C>T (p.Pro43Ser)	PSORS1C1, PSORS1C2 (P43S)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3059182	NM_014068.3(PSORS1C1):c.398C>T (p.Pro133Leu)	PSORS1C1 (P133L)	Single nucleotide variant (missense variant)	PSORS1C1-related disorder	GBenign
Select item 3059106	NM_014068.3(PSORS1C1):c.110G>A (p.Arg37His)	PSORS1C1, PSORS1C2 (R37H)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3056342	NM_014068.3(PSORS1C1):c.100G>A (p.Glu34Lys)	PSORS1C1, PSORS1C2 (E34K)	Single nucleotide variant (missense variant +1 more)	PSORS1C1-related disorder	GBenign
Select item 3033808	NM_014068.3(PSORS1C1):c.13+10C>G	PSORS1C1	Single nucleotide variant (intron variant)	PSORS1C1-related disorder	GLikely benign
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 2972352	NM_001264.5(CDSN):c.86-17A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955211	NM_001264.5(CDSN):c.85+17C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 2632545	NM_001264.5(CDSN):c.583del (p.Ser195fs)	CDSN, PSORS1C1 (S195fs)	Deletion (frameshift variant +1 more)	CDSN-related disorder	GLikely pathogenic
Select item 2618113	NM_014069.3(PSORS1C2):c.221G>A (p.Arg74Lys)	PSORS1C1, PSORS1C2 (R74K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603988	NM_014069.3(PSORS1C2):c.209G>C (p.Ser70Thr)	PSORS1C1, PSORS1C2 (S70T)	Single nucleotide variant (missense variant +1 more)	not specified	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 2552654	NM_014068.3(PSORS1C1):c.236G>C (p.Arg79Thr)	PSORS1C1 (R79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2494361	NM_014069.3(PSORS1C2):c.125C>T (p.Thr42Ile)	PSORS1C1, PSORS1C2 (T42I)	Single nucleotide variant (missense variant +1 more)	not specified	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 2483536	NM_014069.3(PSORS1C2):c.376C>T (p.Pro126Ser)	PSORS1C1, PSORS1C2 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2446051	Single allele	C6orf15, CDSN +1 more	Deletion	Peeling skin syndrome 1	GPathogenic
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 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2408342	NM_014068.3(PSORS1C1):c.134G>T (p.Arg45Leu)	PSORS1C1, PSORS1C2 (R45L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 2351999	NM_014069.3(PSORS1C2):c.166G>A (p.Gly56Arg)	PSORS1C1, PSORS1C2 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	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 2304675	NM_014068.3(PSORS1C1):c.344A>G (p.Gln115Arg)	PSORS1C1 (Q115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2274323	NM_014068.3(PSORS1C1):c.436T>A (p.Phe146Ile)	PSORS1C1 (F146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218841	NM_001264.5(CDSN):c.25A>T (p.Met9Leu)	CDSN, PSORS1C1 (M9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2164867	NM_001264.5(CDSN):c.765G>A (p.Val255=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	CDSN-related disorder +1 more	GLikely benign
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 2069965	NM_001264.5(CDSN):c.9G>A (p.Ser3=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 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 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 2057245	NM_001264.5(CDSN):c.32G>A (p.Arg11His)	CDSN, PSORS1C1 (R11H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2051005	NM_001264.5(CDSN):c.669C>T (p.Pro223=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2041356	NM_001264.5(CDSN):c.106G>A (p.Gly36Ser)	CDSN, PSORS1C1 (G36S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 1976622	NM_001264.5(CDSN):c.1580del (p.Asn527fs)	CDSN, PSORS1C1 (N527fs)	Deletion (frameshift variant +1 more)	not provided	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 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 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 1901301	NM_001264.5(CDSN):c.103A>C (p.Ile35Leu)	CDSN, PSORS1C1 (I35L)	Single nucleotide variant (missense variant +1 more)	not provided	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 1643739	NM_001264.5(CDSN):c.957C>T (p.Tyr319=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous 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 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 1599508	NM_001264.5(CDSN):c.123T>C (p.Pro41=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous 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 1572749	NM_001264.5(CDSN):c.192T>C (p.Gly64=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous 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 1551918	NM_001264.5(CDSN):c.1526T>C (p.Leu509Pro)	CDSN, PSORS1C1 (L509P)	Single nucleotide variant (missense variant +1 more)	CDSN-related disorder +1 more	GLikely benign
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 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 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 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 1388026	NM_001264.5(CDSN):c.1444G>A (p.Gly482Ser)	CDSN, PSORS1C1 (G482S)	Single nucleotide variant (intron 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
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 1302787	NM_001264.5(CDSN):c.1589AAG[1] (p.Ter530=)	CDSN, PSORS1C1	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 1286115	NM_001264.5(CDSN):c.-6T>C	CDSN, PSORS1C1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1282908	NM_001264.5(CDSN):c.86-34C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281493	NM_001264.5(CDSN):c.86-50G>A	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	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 1279197	NM_001264.5(CDSN):c.85+204A>C	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1274908	NM_001264.5(CDSN):c.86-257C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274759	NM_001264.5(CDSN):c.85+36C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273486	NM_014068.3(PSORS1C1):c.-228-5221A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268203	NM_001264.5(CDSN):c.85+178C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1262139	NM_001264.5(CDSN):c.1317C>G (p.Ser439=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260909	NM_001264.5(CDSN):c.85+75A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258881	NM_001264.5(CDSN):c.86-241C>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256707	NM_014068.3(PSORS1C1):c.-228-5128A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245859	NM_014068.3(PSORS1C1):c.-228-4874A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign

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