SLC9A6[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 672939	NM_006359.2(SLC9A6):c.-368G>A	SLC9A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669883	NM_006359.2(SLC9A6):c.-349C>T	SLC9A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1518758	NM_001379110.1(SLC9A6):c.-56-36G>A	SLC9A6 (R22H)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 1600240	NM_001379110.1(SLC9A6):c.-56-35C>G	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GBenign
Select item 207235	NM_001379110.1(SLC9A6):c.-56-34A>G	SLC9A6 (R23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1548035	NM_001379110.1(SLC9A6):c.-56-32G>A	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 1471632	NM_001379110.1(SLC9A6):c.-56-31C>T	SLC9A6 (L24F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 193338	NM_001379110.1(SLC9A6):c.-56-28A>C	SLC9A6 (M25L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 207236	NM_001379110.1(SLC9A6):c.-56-25C>G	SLC9A6 (R26G)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 2821775	NM_001379110.1(SLC9A6):c.-56-22C>T	SLC9A6 (P27S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 940098	NM_001379110.1(SLC9A6):c.-56-21C>A	SLC9A6 (P27H)	Single nucleotide variant (missense variant +1 more)	SLC9A6-related disorder +1 more	GUncertain significance
Select item 2574912	NM_001379110.1(SLC9A6):c.-56-19C>T	SLC9A6 (L28F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108348	NM_001379110.1(SLC9A6):c.-56-17T>G	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 1926914	NM_001379110.1(SLC9A6):c.-56-7C>A	SLC9A6 (L32I)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GLikely benign
Select item 1062813	NM_001379110.1(SLC9A6):c.-56-4G>T	SLC9A6 (A33S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2579602	NM_001379110.1(SLC9A6):c.-53G>C	SLC9A6 (G35A)	Single nucleotide variant (missense variant +2 more)	Christianson syndrome +1 more	GUncertain significance
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 429719	NM_001379110.1(SLC9A6):c.-35G>A	SLC9A6 (G41E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2578270	NM_001379110.1(SLC9A6):c.-27G>A	SLC9A6 (D44N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 207250	NM_001379110.1(SLC9A6):c.-25CGG[5]	SLC9A6	Microsatellite (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 1923941	NM_001379110.1(SLC9A6):c.-25C>T	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 2719952	NM_001379110.1(SLC9A6):c.-23G>A	SLC9A6 (G45D)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 429629	NM_001379110.1(SLC9A6):c.-20G>A	SLC9A6 (G46D)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance FDA Recognized database
Select item 1104067	NM_001379110.1(SLC9A6):c.-19C>A	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 139211	NM_001379110.1(SLC9A6):c.-16C>T	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 2018179	NM_001379110.1(SLC9A6):c.-13A>C	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	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 2700067	NM_001379110.1(SLC9A6):c.-5G>C	SLC9A6 (R51T)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 389505	NM_001379110.1(SLC9A6):c.-4A>G	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GBenign FDA Recognized database
Select item 1083896	NM_001379110.1(SLC9A6):c.-1C>T	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 964337	NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)	SLC9A6 (I57L +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2808610	NM_001379110.1(SLC9A6):c.15C>A (p.Ile5=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 379120	NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)	SLC9A6 (I57M +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely benign FDA Recognized database
Select item 1431750	NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)	SLC9A6 (E60Q +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 159931	NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)	SLC9A6 (K9fs +1 more)	Deletion (frameshift variant)	Christianson syndrome	GPathogenic
Select item 389942	NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=)	SLC9A6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2778608	NM_001379110.1(SLC9A6):c.54C>T (p.Asp18=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 1705001	NM_001379110.1(SLC9A6):c.55A>G (p.Ser19Gly)	SLC9A6 (S19G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 379773	NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome +1 more	GBenign/Likely benign
Select item 2778949	NM_001379110.1(SLC9A6):c.169+14C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 508663	NM_001379110.1(SLC9A6):c.169+14C>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome +1 more	GLikely benign
Select item 2732637	NM_001379110.1(SLC9A6):c.169+15C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3014086	NM_001379110.1(SLC9A6):c.169+18T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 1207245	NM_001379110.1(SLC9A6):c.170-197A>G	SLC9A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677522	NM_001379110.1(SLC9A6):c.170-125C>T	SLC9A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507119	NM_001379110.1(SLC9A6):c.170-16T>A	SLC9A6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2057519	NM_001379110.1(SLC9A6):c.170-11C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3342245	NM_001379110.1(SLC9A6):c.170-6T>A	SLC9A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1390116	NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)	SLC9A6 (G109V +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely pathogenic
Select item 2661495	NM_001379110.1(SLC9A6):c.178G>A (p.Val60Met)	SLC9A6 (V112M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207251	NM_001379110.1(SLC9A6):c.190dup (p.Leu64fs)	SLC9A6 (L64fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 409978	NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)	SLC9A6 (H121R +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely benign
Select item 2705412	NM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe)	SLC9A6 (V122F +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3252191	NM_001379110.1(SLC9A6):c.211C>G (p.Pro71Ala)	SLC9A6 (P123A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159934	NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)	SLC9A6 (P123S +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 1054385	NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)	SLC9A6 (P123L +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 744117	NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 1668952	NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)	SLC9A6 (V126I +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GBenign
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 1358804	NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)	SLC9A6 (T130N +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 1061252	NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)	SLC9A6 (S132N +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 159935	NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)	SLC9A6 (S138G +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome +2 more	GUncertain significance
Select item 1668724	NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 450434	NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)	SLC9A6 (T140A +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 2867256	NM_001379110.1(SLC9A6):c.283A>G (p.Ser95Gly)	SLC9A6 (S95G +1 more)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	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 1578565	NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)	SLC9A6 (K149R +1 more)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GLikely benign
Select item 3257465	NM_001379110.1(SLC9A6):c.321T>C (p.Ile107=)	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 207237	NM_001379110.1(SLC9A6):c.338A>G (p.Asn113Ser)	SLC9A6 (N165S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 436773	NM_001379110.1(SLC9A6):c.370-8T>C	SLC9A6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1377255	NM_001379110.1(SLC9A6):c.370-3C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GUncertain significance
Select item 1513465	NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)	SLC9A6 (V124F +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 514638	NM_001379110.1(SLC9A6):c.370G>A (p.Val124Ile)	SLC9A6 (V144I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1110428	NM_001379110.1(SLC9A6):c.372T>A (p.Val124=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 647660	NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)	SLC9A6 (F183L +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 1369934	NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)	SLC9A6 (I186V +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3031257	NM_001379110.1(SLC9A6):c.403T>C (p.Leu135=)	SLC9A6	Single nucleotide variant (synonymous variant)	SLC9A6-related disorder	GLikely benign
Select item 3341161	NM_001379110.1(SLC9A6):c.413C>A (p.Pro138His)	SLC9A6 (P106H +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely pathogenic
Select item 627623	NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)	SLC9A6 (F141fs +3 more)	Microsatellite (frameshift variant)	Christianson syndrome	GPathogenic
Select item 1308890	NM_001379110.1(SLC9A6):c.420A>G (p.Ile140Met)	SLC9A6 (I108M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 469636	NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)	SLC9A6 (Y162C +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 2814239	NM_001379110.1(SLC9A6):c.445del (p.Arg149fs)	SLC9A6 (R169fs +3 more)	Deletion (frameshift variant)	Christianson syndrome	GPathogenic
Select item 1701613	NM_001379110.1(SLC9A6):c.442_444delinsC (p.Lys148fs)	SLC9A6 (K116fs +3 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 11478	NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC	SLC9A6	Indel (intron variant)	Christianson syndrome	GPathogenic
Select item 2785021	NM_001379110.1(SLC9A6):c.447+20A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 1669180	NM_001379110.1(SLC9A6):c.447+20A>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 1233542	NM_001379110.1(SLC9A6):c.448-71G>C	SLC9A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252404	NM_001379110.1(SLC9A6):c.448-7_448-6dup	SLC9A6	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1179482	NM_001379110.1(SLC9A6):c.448-6dup	SLC9A6	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 284700	NM_001379110.1(SLC9A6):c.448-6del	SLC9A6	Deletion (intron variant)	Christianson syndrome +1 more	GBenign
Select item 1803005	NM_001379110.1(SLC9A6):c.448-9_459del	SLC9A6	Deletion (splice acceptor variant)	Christianson syndrome	GLikely pathogenic
Select item 1146037	NM_001379110.1(SLC9A6):c.448-9_448-8insC	SLC9A6	Insertion (intron variant)	Christianson syndrome	GLikely benign
Select item 1102761	NM_001379110.1(SLC9A6):c.448-8_448-7insG	SLC9A6	Insertion (intron variant)	Christianson syndrome	GLikely benign
Select item 706443	NM_001379110.1(SLC9A6):c.448-5G>T	SLC9A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421511	NM_006359.2(SLC9A6):c.509_510delGA	SLC9A6	Microsatellite	not provided	GPathogenic
Select item 167702	NM_001379110.1(SLC9A6):c.448-1G>A	SLC9A6	Single nucleotide variant (splice acceptor variant)	Christianson syndrome	GPathogenic FDA Recognized database
Select item 207238	NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)	SLC9A6 (R170G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2789752	NM_001379110.1(SLC9A6):c.450A>G (p.Arg150=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign

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