ClinVar for MedGen (Select 813042) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255588	NM_005032.7(PLS3):c.365C>A (p.Ser122Ter)	PLS3 (S100* +3 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 18	GLikely pathogenic
Select item 3254618	NM_005032.7(PLS3):c.696G>A (p.Trp232Ter)	PLS3 (W187* +3 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 1708112	NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)	PLS3 (S120F +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic +1 more	GUncertain significance
Select item 1699109	NM_005032.7(PLS3):c.347G>A (p.Gly116Glu)	PLS3 (G116E +3 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 18 +1 more	GUncertain significance
Select item 1687459	NM_005032.7(PLS3):c.367+2T>C	PLS3	Single nucleotide variant (splice donor variant)	Bone mineral density quantitative trait locus 18	GLikely pathogenic
Select item 1687261	NM_005032.7(PLS3):c.501-1G>A	PLS3	Single nucleotide variant (splice acceptor variant)	Bone mineral density quantitative trait locus 18	GLikely pathogenic
Select item 1483639	NM_005032.7(PLS3):c.234_237+10del	PLS3	Deletion (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1362528	NM_005032.7(PLS3):c.583-3C>A	PLS3	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 18 +1 more	GConflicting classifications of pathogenicity
Select item 1330990	NM_005032.7(PLS3):c.892-254T>C	PLS3	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 18	GLikely benign
Select item 976717	NM_005032.7(PLS3):c.216_219del (p.Ser73fs)	PLS3 (S28fs +2 more)	Deletion (frameshift variant +1 more)	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 804077	NM_005032.7(PLS3):c.514del (p.Leu172fs)	PLS3 (L145fs +3 more)	Deletion (frameshift variant)	Bone mineral density quantitative trait locus 18	GLikely pathogenic
Select item 625796	GRCh37/hg19 Xq23(chrX:113097589-114931342)	MIR448, PLS3 +5 more	Copy number loss	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 431450	NM_005032.7(PLS3):c.256del (p.Ser86fs)	PLS3 (S41fs +3 more)	Deletion (frameshift variant)	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 209215	NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del	MIR448, PLS3 +5 more	Deletion	Bone mineral density quantitative trait locus 18	GPathogenic
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 88701	NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter)	PLS3 (Q491* +3 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 18	Gassociation
Select item 88700	NM_005032.7(PLS3):c.235del (p.Tyr79fs)	PLS3 (Y57fs +2 more)	Deletion (frameshift variant +1 more)	Bone mineral density quantitative trait locus 18	Gassociation