C5567521[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440052	NM_152328.5(ADSS1):c.193-5103del	ADSS1 (A9fs)	Deletion (5 prime UTR variant +2 more)	Myopathy, distal, 5	GLikely pathogenic
Select item 1988439	NM_152328.5(ADSS1):c.193-5037G>T	ADSS1 (A31S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 2438892	NM_152328.5(ADSS1):c.193-4994A>C	ADSS1 (Q45P)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5	GUncertain significance
Select item 1681882	NM_152328.5(ADSS1):c.193-4988T>A	ADSS1 (L47Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1068337	NM_152328.5(ADSS1):c.193-2del	ADSS1	Deletion (splice acceptor variant)	Myopathy, distal, 5 +1 more	GLikely pathogenic
Select item 2438899	NM_152328.5(ADSS1):c.201C>G (p.Asn67Lys)	ADSS1 (N110K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, distal, 5	GUncertain significance
Select item 1681918	NM_152328.5(ADSS1):c.372G>C (p.Trp124Cys)	ADSS1 (W124C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, distal, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2438897	NM_152328.5(ADSS1):c.409G>C (p.Val137Leu)	ADSS1 (V137L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, distal, 5	GUncertain significance
Select item 2438896	NM_152328.5(ADSS1):c.548G>T (p.Cys183Phe)	ADSS1 (C183F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, distal, 5	GUncertain significance
Select item 1681956	NM_152328.5(ADSS1):c.683T>C (p.Ile228Thr)	ADSS1 (I228T +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1681958	NM_152328.5(ADSS1):c.709T>C (p.Tyr237His)	ADSS1 (Y237H +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1029191	NM_152328.5(ADSS1):c.750C>G (p.Ile250Met)	ADSS1 (I45M +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GUncertain significance
Select item 1068137	NM_152328.5(ADSS1):c.794-2A>G	ADSS1	Single nucleotide variant (splice acceptor variant)	Myopathy, distal, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2438894	NM_152328.5(ADSS1):c.823T>G (p.Cys275Gly)	ADSS1 (C275G +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GUncertain significance
Select item 1681979	NM_152328.5(ADSS1):c.880G>A (p.Val294Met)	ADSS1 (V294M +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1681980	NM_152328.5(ADSS1):c.911G>A (p.Arg304His)	ADSS1 (R304H +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5 +2 more	GUncertain significance
Select item 2438895	NM_152328.5(ADSS1):c.1223G>A (p.Gly408Glu)	ADSS1 (G203E +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GUncertain significance
Select item 2438891	NM_152328.5(ADSS1):c.1265T>A (p.Leu422Gln)	ADSS1 (L217Q +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GUncertain significance
Select item 2438900	NM_152328.5(ADSS1):c.1364A>T (p.Gln455Leu)	ADSS1 (Q250L +2 more)	Single nucleotide variant (missense variant)	Myopathy, distal, 5	GUncertain significance