"GeneDx"[submitter] AND "PLS1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 1257881	NM_001145319.2(PLS1):c.-36-49A>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221574	NM_001145319.2(PLS1):c.70+141G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263995	NM_001145319.2(PLS1):c.70+169G>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1711969	NM_001145319.2(PLS1):c.136C>T (p.Pro46Ser)	PLS1 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372190	NM_001145319.2(PLS1):c.193A>G (p.Ser65Gly)	PLS1 (S65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269882	NM_001145319.2(PLS1):c.234+124_234+125del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1288756	NM_001145319.2(PLS1):c.235-210A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242340	NM_001145319.2(PLS1):c.235-166G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253042	NM_001145319.2(PLS1):c.309T>G (p.Thr103=)	PLS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181142	NM_001145319.2(PLS1):c.364+37G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277792	NM_001145319.2(PLS1):c.364+174C>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239682	NM_001145319.2(PLS1):c.365-46A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263460	NM_001145319.2(PLS1):c.438A>G (p.Ile146Met)	PLS1 (I146M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245176	NM_001145319.2(PLS1):c.579+134del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1276295	NM_001145319.2(PLS1):c.647C>T (p.Ser216Leu)	PLS1 (S216L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2442432	NM_001145319.2(PLS1):c.770G>A (p.Gly257Asp)	PLS1 (G257D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 791956	NM_001145319.2(PLS1):c.888+5A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251898	NM_001145319.2(PLS1):c.888+178A>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241932	NM_001145319.2(PLS1):c.889-59C>T	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253430	NM_001145319.2(PLS1):c.981+5G>T	PLS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1283017	NM_001145319.2(PLS1):c.981+130T>C	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264931	NM_001145319.2(PLS1):c.982-188ATAA[8]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261829	NM_001145319.2(PLS1):c.982-188ATAA[9]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240943	NM_001145319.2(PLS1):c.982-188ATAA[10]	PLS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1707096	NM_001145319.2(PLS1):c.1057_1065del (p.Pro353_Asp355del)	PLS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 590932	NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe)	PLS1 (L363F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1225941	NM_001145319.2(PLS1):c.1128G>A (p.Pro376=)	PLS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1281629	NM_001145319.2(PLS1):c.1256+18C>T	PLS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1269597	NM_001145319.2(PLS1):c.1371+161G>A	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289276	NM_001145319.2(PLS1):c.1629+106A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268255	NM_001145319.2(PLS1):c.1629+245del	PLS1	Deletion (intron variant)	not provided	GBenign
Select item 1229643	NM_001145319.2(PLS1):c.1630-172A>G	PLS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313927	NM_001145319.2(PLS1):c.1846G>A (p.Val616Met)	PLS1 (V616M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249967	NM_001145319.2(PLS1):c.*151G>C	PLS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 35