ClinVar for MedGen (Select 98483) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582475	NM_014754.3(PTDSS1):c.275C>T (p.Pro92Leu)	PTDSS1 (P92L)	Single nucleotide variant (missense variant +1 more)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 2441809	NM_014754.3(PTDSS1):c.686G>A (p.Gly229Asp)	PTDSS1 (G229D +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 2435277	NM_014754.3(PTDSS1):c.1404T>A (p.Asn468Lys)	PTDSS1 (N322K +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 1279187	NM_014754.3(PTDSS1):c.1242+27A>G	PTDSS1	Single nucleotide variant (intron variant)	Lenz-Majewski hyperostosis syndrome +1 more	GBenign
Select item 1278468	NM_014754.3(PTDSS1):c.1073+48T>A	PTDSS1	Single nucleotide variant (intron variant)	Lenz-Majewski hyperostosis syndrome +1 more	GBenign
Select item 1273820	NM_014754.3(PTDSS1):c.1312+12_1312+17del	PTDSS1	Microsatellite (intron variant)	Lenz-Majewski hyperostosis syndrome +1 more	GBenign
Select item 1027889	NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe)	PTDSS1 (S137F +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GLikely pathogenic
Select item 930583	NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu)	PTDSS1 (I83L)	Single nucleotide variant (5 prime UTR variant +1 more)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 802426	NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu)	PTDSS1 (P172L +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 800750	NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)	PTDSS1 (F165C +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 429519	NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln)	PTDSS1 (R95Q)	Single nucleotide variant (missense variant +1 more)	Lenz-Majewski hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 97036	NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro)	PTDSS1 (L265P +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GPathogenic
Select item 97035	NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser)	PTDSS1 (P269S +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GPathogenic
Select item 97034	NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)	PTDSS1 (Q353R +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GPathogenic