Related gene-specific medical variations for Gene (Select 100288152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3165693	NM_004174.4(SLC9A3):c.2464G>A (p.Glu822Lys)	SLC9A3, SLC9A3-AS1 (E813K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165692	NM_004174.4(SLC9A3):c.2051A>C (p.Glu684Ala)	SLC9A3, SLC9A3-AS1 (E684A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165691	NM_004174.4(SLC9A3):c.1552G>A (p.Val518Ile)	SLC9A3, SLC9A3-AS1 (V518I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3044618	NM_004174.4(SLC9A3):c.2382T>C (p.Ser794=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	SLC9A3-related disorder	GLikely benign
Select item 3023837	NM_004174.4(SLC9A3):c.2401C>T (p.Leu801=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006927	NM_004174.4(SLC9A3):c.2501+11C>G	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006788	NM_004174.4(SLC9A3):c.1887G>A (p.Gln629=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3004059	NM_004174.4(SLC9A3):c.2251+17G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997163	NM_004174.4(SLC9A3):c.1761-20C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988173	NM_004174.4(SLC9A3):c.2141-13C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986443	NM_004174.4(SLC9A3):c.2251+16A>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979440	NM_004174.4(SLC9A3):c.2251+12G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978995	NM_004174.4(SLC9A3):c.1608C>T (p.His536=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2975658	NM_004174.4(SLC9A3):c.1734C>T (p.Thr578=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975265	NM_004174.4(SLC9A3):c.1917G>A (p.Glu639=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2965286	NM_004174.4(SLC9A3):c.2502-7C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2964629	NM_004174.4(SLC9A3):c.1875C>T (p.Tyr625=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2960526	NM_004174.4(SLC9A3):c.2068-4G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959418	NM_004174.4(SLC9A3):c.1760+11A>G	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2914501	NM_004174.4(SLC9A3):c.2019G>A (p.Gln673=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2909563	NM_004174.4(SLC9A3):c.1761-6A>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903721	NM_004174.4(SLC9A3):c.1527C>T (p.His509=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2881555	NM_004174.4(SLC9A3):c.2265T>C (p.Pro755=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869979	NM_004174.4(SLC9A3):c.2160C>T (p.Thr720=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858340	NM_004174.4(SLC9A3):c.2166G>C (p.Glu722Asp)	SLC9A3, SLC9A3-AS1 (E722D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849118	NM_004174.4(SLC9A3):c.2376del (p.Tyr793fs)	SLC9A3, SLC9A3-AS1 (Y784fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2846627	NM_004174.4(SLC9A3):c.1779T>C (p.Ala593=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844651	NM_004174.4(SLC9A3):c.2501+21G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818122	NM_004174.4(SLC9A3):c.1755C>T (p.Tyr585=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811740	NM_004174.4(SLC9A3):c.2070A>G (p.Arg690=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808385	NM_004174.4(SLC9A3):c.2244C>A (p.Ser748=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805125	NM_004174.4(SLC9A3):c.1820G>A (p.Ser607Asn)	SLC9A3, SLC9A3-AS1 (S598N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796990	NM_004174.4(SLC9A3):c.1731C>A (p.Ser577=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792266	NM_004174.4(SLC9A3):c.1647+7G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2790150	NM_004174.4(SLC9A3):c.1948C>A (p.Arg650=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790117	NM_004174.4(SLC9A3):c.2316G>T (p.Pro772=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788331	NM_004174.4(SLC9A3):c.2199G>T (p.Gly733=)	SLC9A3-AS1, SLC9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787888	NM_004174.4(SLC9A3):c.2460C>G (p.Pro820=)	SLC9A3-AS1, SLC9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778870	NM_004174.4(SLC9A3):c.1760+7G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2778147	NM_004174.4(SLC9A3):c.1760+18T>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2770795	NM_004174.4(SLC9A3):c.1761-8C>T	SLC9A3-AS1, SLC9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766565	NM_004174.4(SLC9A3):c.1518-6C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2749408	NM_004174.4(SLC9A3):c.2068-18T>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747924	NM_004174.4(SLC9A3):c.1848G>C (p.Thr616=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747281	NM_004174.4(SLC9A3):c.2127C>A (p.Thr709=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740757	NM_004174.4(SLC9A3):c.2178T>C (p.Tyr726=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727718	NM_004174.4(SLC9A3):c.2115G>C (p.Ala705=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707883	NM_004174.4(SLC9A3):c.1648-18G>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703924	NM_004174.4(SLC9A3):c.2140+8G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701785	NM_004174.4(SLC9A3):c.1585_1586delinsAT (p.Asp529Ile)	SLC9A3, SLC9A3-AS1 (D520I +1 more)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2696881	NM_004174.4(SLC9A3):c.2038C>T (p.Leu680=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655249	NM_004174.4(SLC9A3):c.*88G>C	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2428379	NM_004174.4(SLC9A3):c.1973G>A (p.Arg658Gln)	SLC9A3, SLC9A3-AS1 (R649Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2419643	NM_004174.4(SLC9A3):c.1620G>A (p.Leu540=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2417486	NM_004174.4(SLC9A3):c.2208C>T (p.Phe736=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409667	NM_004174.4(SLC9A3):c.2177A>G (p.Tyr726Cys)	SLC9A3, SLC9A3-AS1 (Y726C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336865	NM_004174.4(SLC9A3):c.2333G>C (p.Gly778Ala)	SLC9A3, SLC9A3-AS1 (G769A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307650	NM_004174.4(SLC9A3):c.1795C>A (p.Gln599Lys)	SLC9A3, SLC9A3-AS1 (Q590K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205919	NM_004174.4(SLC9A3):c.1589G>A (p.Arg530Gln)	SLC9A3, SLC9A3-AS1 (R530Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2194808	NM_004174.4(SLC9A3):c.1847C>T (p.Thr616Met)	SLC9A3, SLC9A3-AS1 (T607M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191465	NM_004174.4(SLC9A3):c.1935C>T (p.Asp645=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2182430	NM_004174.4(SLC9A3):c.2487C>G (p.Pro829=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181403	NM_004174.4(SLC9A3):c.2107A>G (p.Ser703Gly)	SLC9A3, SLC9A3-AS1 (S703G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178972	NM_004174.4(SLC9A3):c.1830C>T (p.Asp610=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176969	NM_004174.4(SLC9A3):c.2032G>A (p.Ala678Thr)	SLC9A3, SLC9A3-AS1 (A669T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2174620	NM_004174.4(SLC9A3):c.2252-7C>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2163348	NM_004174.4(SLC9A3):c.1618C>T (p.Leu540=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2152459	NM_004174.4(SLC9A3):c.2342T>C (p.Val781Ala)	SLC9A3, SLC9A3-AS1 (V781A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133871	NM_004174.4(SLC9A3):c.1837G>A (p.Asp613Asn)	SLC9A3, SLC9A3-AS1 (D604N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133809	NM_004174.4(SLC9A3):c.1518-12C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2130810	NM_004174.4(SLC9A3):c.1983G>T (p.Leu661=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2120367	NM_004174.4(SLC9A3):c.1742C>T (p.Ala581Val)	SLC9A3, SLC9A3-AS1 (A572V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111394	NM_004174.4(SLC9A3):c.1734C>G (p.Thr578=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098836	NM_004174.4(SLC9A3):c.2469G>A (p.Arg823=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088356	NM_004174.4(SLC9A3):c.2117A>G (p.Gln706Arg)	SLC9A3, SLC9A3-AS1 (Q697R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074362	NM_004174.4(SLC9A3):c.1817G>A (p.Arg606Gln)	SLC9A3, SLC9A3-AS1 (R597Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073191	NM_004174.4(SLC9A3):c.2068-5C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072410	NM_004174.4(SLC9A3):c.2277G>A (p.Pro759=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065002	NM_004174.4(SLC9A3):c.2480C>A (p.Ala827Asp)	SLC9A3, SLC9A3-AS1 (A827D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037859	NM_004174.4(SLC9A3):c.1935_1937del (p.Asp645del)	SLC9A3, SLC9A3-AS1 (D636del +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2032004	NM_004174.4(SLC9A3):c.1648-14C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016829	NM_004174.4(SLC9A3):c.1825C>A (p.Arg609=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007722	NM_004174.4(SLC9A3):c.2251+18G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2000455	NM_004174.4(SLC9A3):c.1668G>T (p.Leu556=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978314	NM_004174.4(SLC9A3):c.2104G>A (p.Glu702Lys)	SLC9A3, SLC9A3-AS1 (E702K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975359	NM_004174.4(SLC9A3):c.1552G>T (p.Val518Phe)	SLC9A3, SLC9A3-AS1 (V509F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1970144	NM_004174.4(SLC9A3):c.1994A>G (p.Lys665Arg)	SLC9A3, SLC9A3-AS1 (K656R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965016	NM_004174.4(SLC9A3):c.2072A>T (p.Asn691Ile)	SLC9A3, SLC9A3-AS1 (N691I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1960157	NM_004174.4(SLC9A3):c.2043C>T (p.Tyr681=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950643	NM_004174.4(SLC9A3):c.2181T>G (p.Asp727Glu)	SLC9A3, SLC9A3-AS1 (D718E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947912	NM_004174.4(SLC9A3):c.2255T>C (p.Ile752Thr)	SLC9A3, SLC9A3-AS1 (I743T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1945234	NM_004174.4(SLC9A3):c.1881G>C (p.Pro627=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1944309	NM_004174.4(SLC9A3):c.1761-12G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939584	NM_004174.4(SLC9A3):c.1765G>A (p.Glu589Lys)	SLC9A3, SLC9A3-AS1 (E589K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938106	NM_004174.4(SLC9A3):c.2276C>T (p.Pro759Leu)	SLC9A3, SLC9A3-AS1 (P759L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936961	NM_004174.4(SLC9A3):c.2251+20_2251+27del	SLC9A3, SLC9A3-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1936887	NM_004174.4(SLC9A3):c.1760+13G>A	SLC9A3, SLC9A3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1935375	NM_004174.4(SLC9A3):c.1935C>G (p.Asp645Glu)	SLC9A3, SLC9A3-AS1 (D636E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1932590	NM_004174.4(SLC9A3):c.2141-20C>T	SLC9A3, SLC9A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931296	NM_004174.4(SLC9A3):c.1972C>A (p.Arg658=)	SLC9A3, SLC9A3-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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