"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC5A2"[g - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047822	NM_003041.4(SLC5A2):c.127-18C>G	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 2633293	NM_003041.4(SLC5A2):c.163T>C (p.Tyr55His)	SLC5A2 (Y55H)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder	GUncertain significance
Select item 3036114	NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys)	SLC5A2 (R60C)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder	GUncertain significance
Select item 3051410	NM_003041.4(SLC5A2):c.306G>A (p.Ala102=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 161605	NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)	SLC5A2 (R132H)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder +1 more	GUncertain significance
Select item 12906	NM_003041.4(SLC5A2):c.500del (p.Gln167fs)	SLC5A2 (Q167fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder +1 more	GPathogenic
Select item 2635987	NM_003041.4(SLC5A2):c.506del (p.Ala169fs)	SLC5A2 (A169fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 3030697	NM_003041.4(SLC5A2):c.789C>T (p.Tyr263=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 3051298	NM_003041.4(SLC5A2):c.843C>A (p.Leu281=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 2633899	NM_003041.4(SLC5A2):c.872G>A (p.Trp291Ter)	LOC130058907, SLC5A2 (W291*)	Single nucleotide variant (nonsense +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 3032203	NM_003041.4(SLC5A2):c.885+7G>T	LOC130058907, SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 3058571	NM_003041.4(SLC5A2):c.1022-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 3052186	NM_003041.4(SLC5A2):c.1130-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 2646483	NM_003041.4(SLC5A2):c.1356C>G (p.Leu452=)	SLC5A2	Single nucleotide variant (synonymous variant)	SLC5A2-related disorder +1 more	GLikely benign
Select item 2636558	NM_003041.4(SLC5A2):c.1407del (p.Val470fs)	SLC5A2 (V470fs)	Deletion (frameshift variant)	SLC5A2-related disorder	GLikely pathogenic
Select item 3049503	NM_003041.4(SLC5A2):c.1409T>A (p.Val470Asp)	SLC5A2 (V470D)	Single nucleotide variant (missense variant)	SLC5A2-related disorder	GUncertain significance
Select item 2577432	NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)	SLC5A2 (A519fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 2632103	NM_003041.4(SLC5A2):c.1593del (p.Ile531fs)	SLC5A2 (I531fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 3040656	NM_003041.4(SLC5A2):c.1678G>T (p.Val560Phe)	RUSF1, SLC5A2 (V560F)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC5A2-related disorder	GUncertain significance
Select item 319081	NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=)	RUSF1, SLC5A2	Single nucleotide variant (3 prime UTR variant +2 more)	SLC5A2-related disorder +1 more	GLikely benign
Select item 12905	NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	RUSF1, SLC5A2 (N654S)	Single nucleotide variant (3 prime UTR variant +2 more)	SLC5A2-related disorder +3 more	GConflicting classifications of pathogenicity

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Items: 21