"GeneDx"[submitter] AND "PLS3"[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1196403	NM_005032.7(PLS3):c.-8-139G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265980	NM_005032.7(PLS3):c.-8-78C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516327	NM_005032.7(PLS3):c.-8-20C>T	PLS3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1186573	NM_005032.7(PLS3):c.73+178del	PLS3	Deletion (intron variant)	not provided	GLikely benign
Select item 1296552	NM_005032.7(PLS3):c.73+277G>T	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676714	NM_005032.7(PLS3):c.73+621C>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259784	NM_005032.7(PLS3):c.74-236A>G	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287469	NM_005032.7(PLS3):c.74-130T>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245967	NM_005032.7(PLS3):c.74-79A>G	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243943	NM_005032.7(PLS3):c.74-50C>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671538	NM_005032.7(PLS3):c.237+182C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 88702	NM_005032.7(PLS3):c.321T>A (p.Gly107=)	PLS3	Single nucleotide variant (synonymous variant)	Bone mineral density quantitative trait locus 18 +3 more	GBenign
Select item 3367384	NM_005032.7(PLS3):c.346G>A (p.Gly116Arg)	PLS3 (G116R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516301	NM_005032.7(PLS3):c.367+11T>C	PLS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1200427	NM_005032.7(PLS3):c.367+86T>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277477	NM_005032.7(PLS3):c.368-56A>C	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242607	NM_005032.7(PLS3):c.500+85G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276894	NM_005032.7(PLS3):c.501-190_501-178del	PLS3	Deletion (intron variant)	not provided	GBenign
Select item 1182611	NM_005032.7(PLS3):c.582+288A>G	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240498	NM_005032.7(PLS3):c.583-215A>G	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183603	NM_005032.7(PLS3):c.727A>G (p.Ile243Val)	PLS3 (I198V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 668874	NM_005032.7(PLS3):c.748+130G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212716	NM_005032.7(PLS3):c.749-25T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300398	NM_005032.7(PLS3):c.749-8del	PLS3	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1209216	NM_005032.7(PLS3):c.892-529C>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267942	NM_005032.7(PLS3):c.892-500G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674932	NM_005032.7(PLS3):c.892-215C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206375	NM_005032.7(PLS3):c.925A>G (p.Ile309Val)	PLS3 (I264V +3 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign
Select item 516189	NM_005032.7(PLS3):c.1242T>C (p.Pro414=)	PLS3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 668769	NM_005032.7(PLS3):c.1263-321dup	PLS3	Duplication (intron variant)	not provided	GBenign
Select item 668770	NM_005032.7(PLS3):c.1263-319C>A	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671541	NM_005032.7(PLS3):c.1263-309del	PLS3	Deletion (intron variant)	not provided	GBenign
Select item 1261498	NM_005032.7(PLS3):c.1263-271T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190781	NM_005032.7(PLS3):c.1263-186A>G	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200242	NM_005032.7(PLS3):c.1263-113G>C	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197630	NM_005032.7(PLS3):c.1275T>C (p.Asp425=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 516190	NM_005032.7(PLS3):c.1294T>C (p.Leu432=)	PLS3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 509951	NM_005032.7(PLS3):c.1377+4G>A	PLS3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 516191	NM_005032.7(PLS3):c.1377+17C>T	PLS3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1218690	NM_005032.7(PLS3):c.1377+103C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211996	NM_005032.7(PLS3):c.1476C>G (p.Thr492=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1201464	NM_005032.7(PLS3):c.1511+1G>A	PLS3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 674933	NM_005032.7(PLS3):c.1511+82T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197759	NM_005032.7(PLS3):c.1511+249G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177965	NM_005032.7(PLS3):c.1512-301C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286316	NM_005032.7(PLS3):c.1512-267del	PLS3	Deletion (intron variant)	not provided	GBenign
Select item 1212577	NM_005032.7(PLS3):c.1512-261=	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206972	NM_005032.7(PLS3):c.1512-185G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191210	NM_005032.7(PLS3):c.1512-112A>C	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277503	NM_005032.7(PLS3):c.1761-298C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196857	NM_005032.7(PLS3):c.1761-109T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 68