"PreventionGenetics, part of Exact Sciences"[submitter] AND "SAGE1"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056169	NM_001381902.1(SAGE1):c.24G>A (p.Thr8=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GBenign
Select item 3059017	NM_001381902.1(SAGE1):c.32C>T (p.Pro11Leu)	SAGE1 (P11L)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3055557	NM_001381902.1(SAGE1):c.285T>C (p.Asn95=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GBenign
Select item 3041939	NM_001381902.1(SAGE1):c.289T>C (p.Leu97=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 1206116	NM_001381902.1(SAGE1):c.470dup (p.His157fs)	LOC126863325, SAGE1 (H157fs)	Duplication (frameshift variant)	SAGE1-related disorder	GLikely benign
Select item 3049140	NM_001381902.1(SAGE1):c.802A>T (p.Ile268Phe)	SAGE1 (I268F)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3052074	NM_001381902.1(SAGE1):c.960A>G (p.Gln320=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 3046358	NM_001381902.1(SAGE1):c.1101A>G (p.Leu367=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 3033170	NM_001381902.1(SAGE1):c.1105G>A (p.Gly369Arg)	SAGE1 (G369R)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GLikely benign
Select item 3052353	NM_001381902.1(SAGE1):c.1119G>T (p.Leu373Phe)	SAGE1 (L373F)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3042368	NM_001381902.1(SAGE1):c.1200T>C (p.Asp400=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 2306084	NM_001381902.1(SAGE1):c.1366G>A (p.Val456Ile)	SAGE1 (V456I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3055411	NM_001381902.1(SAGE1):c.1497A>G (p.Gln499=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GBenign
Select item 3050479	NM_001381902.1(SAGE1):c.1814T>G (p.Phe605Cys)	SAGE1 (F605C)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GLikely benign
Select item 3052354	NM_001381902.1(SAGE1):c.2069A>T (p.Asn690Ile)	SAGE1 (N690I)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3046100	NM_001381902.1(SAGE1):c.2166T>C (p.Asp722=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 3052324	NM_001381902.1(SAGE1):c.2297A>T (p.Asp766Val)	SAGE1 (D766V)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3053042	NM_001381902.1(SAGE1):c.2355G>A (p.Ala785=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GLikely benign
Select item 3055797	NM_001381902.1(SAGE1):c.2414T>C (p.Leu805Ser)	SAGE1 (L805S)	Single nucleotide variant (missense variant)	SAGE1-related disorder	GBenign
Select item 3056670	NM_001381902.1(SAGE1):c.2463G>A (p.Lys821=)	SAGE1	Single nucleotide variant (synonymous variant)	SAGE1-related disorder	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20