"GeneDx"[submitter] AND "PSORS1C1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1237033	NM_001264.5(CDSN):c.753G>A (p.Arg251=)	CDSN, PSORS1C1	Single nucleotide variant (synonymous variant +1 more)	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 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 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 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 1239840	NM_001264.5(CDSN):c.86-76G>T	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 1274908	NM_001264.5(CDSN):c.86-257C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	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 1268203	NM_001264.5(CDSN):c.85+178C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	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 1274759	NM_001264.5(CDSN):c.85+36C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244640	NM_001264.5(CDSN):c.52A>T (p.Met18Leu)	CDSN, PSORS1C1 (M18L)	Single nucleotide variant (missense variant +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 1273486	NC_000006.12:g.31120455A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229925	NC_000006.12:g.31120464C>T	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256707	NC_000006.12:g.31120548A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245859	NC_000006.12:g.31120802A>G	CDSN, PSORS1C1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34