"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADSS1"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031731	NM_152328.5(ADSS1):c.193-5130G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related condition	GLikely benign
Select item 769403	NM_152328.5(ADSS1):c.193-5127A>C	ADSS1 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 710045	NM_152328.5(ADSS1):c.193-4966T>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related condition +1 more	GBenign
Select item 725893	NM_152328.5(ADSS1):c.193-4951C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related condition +1 more	GLikely benign
Select item 3047057	NM_152328.5(ADSS1):c.193-4876T>C	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related condition	GLikely benign
Select item 1681898	NM_152328.5(ADSS1):c.193-4797G>T	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related condition +1 more	GLikely benign
Select item 1681901	NM_152328.5(ADSS1):c.193-10del	ADSS1	Deletion (intron variant)	ADSS1-related condition +1 more	GLikely benign
Select item 3036385	NM_152328.5(ADSS1):c.225G>C (p.Val75=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related condition	GLikely benign
Select item 3036164	NM_152328.5(ADSS1):c.234A>G (p.Lys78=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related condition	GLikely benign
Select item 3046426	NM_152328.5(ADSS1):c.359-5C>T	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related condition	GLikely benign
Select item 1681943	NM_152328.5(ADSS1):c.585-5T>C	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related condition +1 more	GBenign/Likely benign
Select item 243025	NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	ADSS1 (D304N +2 more)	Single nucleotide variant (missense variant)	ADSS1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1681972	NM_152328.5(ADSS1):c.829G>A (p.Val277Met)	ADSS1 (V277M +2 more)	Single nucleotide variant (missense variant)	ADSS1-related condition +2 more	GUncertain significance
Select item 1899381	NM_152328.5(ADSS1):c.872T>C (p.Ile291Thr)	ADSS1 (I291T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 718781	NM_152328.5(ADSS1):c.874G>A (p.Gly292Ser)	ADSS1 (G292S +2 more)	Single nucleotide variant (missense variant)	ADSS1-related condition +1 more	GBenign
Select item 3042018	NM_152328.5(ADSS1):c.948+7C>G	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related condition	GLikely benign
Select item 1682000	NM_152328.5(ADSS1):c.1073C>T (p.Ala358Val)	ADSS1 (A153V +2 more)	Single nucleotide variant (missense variant)	ADSS1-related condition +1 more	GBenign
Select item 1682023	NM_152328.5(ADSS1):c.1245C>T (p.Gly415=)	ADSS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3040996	NM_152328.5(ADSS1):c.1323C>A (p.Val441=)	ADSS1	Single nucleotide variant (synonymous variant)	ADSS1-related condition	GLikely benign
Select item 3043333	NM_152328.5(ADSS1):c.*2C>T	ADSS1	Single nucleotide variant (3 prime UTR variant)	ADSS1-related condition	GLikely benign

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Items: 20