"Ambry Genetics"[submitter] AND "SLC9A6"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 383439	NM_001379110.1(SLC9A6):c.-57+27T>G	LOC130068746, SLC9A6 (M1R)	Single nucleotide variant (missense variant +2 more)	Christianson syndrome	GUncertain significance FDA Recognized database
Select item 159933	NM_001379110.1(SLC9A6):c.-57+50G>T	LOC130068746, SLC9A6 (A9S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GBenign FDA Recognized database
Select item 1783022	NM_001379110.1(SLC9A6):c.-51G>A	SLC9A6 (V36I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 588677	NM_001379110.1(SLC9A6):c.-43C>T	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 207247	NM_001379110.1(SLC9A6):c.-9G>T	SLC9A6 (A50S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 1788576	NM_001379110.1(SLC9A6):c.69C>T (p.Leu23=)	LOC130068747, SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1798016	NM_001379110.1(SLC9A6):c.138C>G (p.Phe46Leu)	LOC130068747, SLC9A6 (F46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 415902	NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)	SLC9A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3225530	NM_001379110.1(SLC9A6):c.284del (p.Ser95fs)	SLC9A6 (S147fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 207248	NM_001379110.1(SLC9A6):c.370-9_370-5del	SLC9A6	Deletion (intron variant)	Christianson syndrome	GPathogenic FDA Recognized database
Select item 1179482	NM_001379110.1(SLC9A6):c.448-6dup	SLC9A6	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 985394	NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)	SLC9A6 (S126fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 139200	NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 3165721	NM_001379110.1(SLC9A6):c.481G>T (p.Ala161Ser)	SLC9A6 (A181S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988715	NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)	SLC9A6 (I137N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 512592	NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)	SLC9A6 (V193I +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 1750941	NM_001379110.1(SLC9A6):c.539G>A (p.Gly180Asp)	SLC9A6 (G148D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 942247	NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)	SLC9A6 (T183M +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 752199	NM_001379110.1(SLC9A6):c.549G>A (p.Thr183=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 379485	NM_001379110.1(SLC9A6):c.638-5A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 1758436	NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)	SLC9A6 (D245G +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 1763488	NM_001379110.1(SLC9A6):c.786C>T (p.Thr262=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 512180	NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589462	NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 139203	NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 469632	NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GBenign FDA Recognized database
Select item 1769938	NM_001379110.1(SLC9A6):c.1260AAG[1] (p.Arg421del)	SLC9A6 (R473del +3 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 95375	NM_001379110.1(SLC9A6):c.1306+8G>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome +3 more	GBenign/Likely benign
Select item 2550553	NM_001379110.1(SLC9A6):c.1321A>G (p.Met441Val)	SLC9A6 (M461V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403996	NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)	SLC9A6 (T482M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2235802	NM_001379110.1(SLC9A6):c.1387C>G (p.Leu463Val)	SLC9A6 (L515V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623551	NM_001379110.1(SLC9A6):c.1394T>C (p.Ile465Thr)	SLC9A6 (I485T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95376	NM_001379110.1(SLC9A6):c.1460+4A>G	SLC9A6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1134224	NM_001379110.1(SLC9A6):c.1578C>T (p.His526=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 139207	NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)	SLC9A6 (R568Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 139208	NM_001379110.1(SLC9A6):c.1662-4G>A	SLC9A6	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign
Select item 139209	NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)	SLC9A6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2312577	NM_001379110.1(SLC9A6):c.1702A>G (p.Thr568Ala)	SLC9A6 (T506A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504766	NM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu)	SLC9A6 (Q531E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589925	NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1079303	NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)	SLC9A6 (P559L +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GLikely benign
Select item 1782436	NM_001379110.1(SLC9A6):c.1938G>A (p.Gly646=)	SLC9A6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1422540	NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)	SLC9A6 (I642T +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 587766	NM_001379110.1(SLC9A6):c.5_6del	SLC9A6	Deletion (3 prime UTR variant)	not provided +2 more	GBenign
Select item 139210	NM_001379110.1(SLC9A6):c.*8A>T	SLC9A6	Single nucleotide variant (3 prime UTR variant)	Christianson syndrome	GBenign FDA Recognized database

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Items: 45