ClinVar for Gene (Select 6548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247945	NC_000001.10:g.(?_27434119)_(27440797_?)del	SLC9A1	Deletion	not provided	GPathogenic
Select item 3239311	NM_003047.5(SLC9A1):c.1221C>T (p.His407=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234223	NM_003047.5(SLC9A1):c.1485+57G>A	LOC126805673, SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3165675	NM_003047.5(SLC9A1):c.2266G>C (p.Glu756Gln)	SLC9A1 (E756Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165673	NM_003047.5(SLC9A1):c.1541C>T (p.Thr514Met)	SLC9A1 (T514M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064996	NM_003047.5(SLC9A1):c.1273C>T (p.Arg425Cys)	SLC9A1 (R425C)	Single nucleotide variant (missense variant +1 more)	Lichtenstein-Knorr syndrome	GUncertain significance
Select item 3057630	NM_003047.5(SLC9A1):c.2062G>T (p.Ala688Ser)	SLC9A1 (A688S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3054032	NM_003047.5(SLC9A1):c.2055G>A (p.Thr685=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	SLC9A1-related disorder	GLikely benign
Select item 3053578	NM_003047.5(SLC9A1):c.987C>T (p.Ile329=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	SLC9A1-related disorder	GLikely benign
Select item 3042509	NM_003047.5(SLC9A1):c.1725C>G (p.Ala575=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	SLC9A1-related disorder	GLikely benign
Select item 3014553	NM_003047.5(SLC9A1):c.28C>T (p.Leu10Phe)	SLC9A1 (L10F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999786	NM_003047.5(SLC9A1):c.1626T>C (p.Gly542=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993068	NM_003047.5(SLC9A1):c.1725C>A (p.Ala575=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988348	NM_003047.5(SLC9A1):c.805G>A (p.Val269Ile)	SLC9A1 (V269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971807	NM_003047.5(SLC9A1):c.129C>T (p.Ala43=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971742	NM_003047.5(SLC9A1):c.1065-12T>C	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964887	NM_003047.5(SLC9A1):c.888G>C (p.Leu296=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960534	NM_003047.5(SLC9A1):c.1809C>T (p.Thr603=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957436	NM_003047.5(SLC9A1):c.1353C>T (p.Ile451=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956768	NM_003047.5(SLC9A1):c.1713C>G (p.Pro571=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896080	NM_003047.5(SLC9A1):c.1194C>T (p.Leu398=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890456	NM_003047.5(SLC9A1):c.111C>A (p.Leu37=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880504	NM_003047.5(SLC9A1):c.1764G>C (p.Leu588=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879535	NM_003047.5(SLC9A1):c.849C>T (p.Tyr283=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879310	NM_003047.5(SLC9A1):c.1486-16C>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869602	NM_003047.5(SLC9A1):c.814-6C>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740210	NM_003047.5(SLC9A1):c.2343G>A (p.Ala781=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721569	NM_003047.5(SLC9A1):c.600C>T (p.Asn200=)	SLC9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690036	NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)	SLC9A1 (G215D)	Single nucleotide variant (missense variant)	Lichtenstein-Knorr syndrome	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2663414	NM_003047.5(SLC9A1):c.1379C>A (p.Ala460Asp)	LOC126805673, SLC9A1 (A460D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2638555	NM_003047.5(SLC9A1):c.426G>T (p.Val142=)	SLC9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638554	NM_003047.5(SLC9A1):c.864C>T (p.Ile288=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638553	NM_003047.5(SLC9A1):c.1758C>T (p.Ile586=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638552	NM_003047.5(SLC9A1):c.2319A>C (p.Gly773=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2577758	NM_003047.5(SLC9A1):c.2159A>G (p.Asp720Gly)	SLC9A1 (D720G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571792	NM_003047.5(SLC9A1):c.2399C>T (p.Pro800Leu)	SLC9A1 (P800L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2553381	NM_003047.5(SLC9A1):c.1322T>C (p.Ile441Thr)	LOC126805673, SLC9A1 (I441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524780	NM_003047.5(SLC9A1):c.109C>T (p.Leu37Phe)	SLC9A1 (L37F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504768	NM_003047.5(SLC9A1):c.1051T>C (p.Ser351Pro)	SLC9A1 (S351P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503172	NM_003047.5(SLC9A1):c.1283-2A>G	LOC126805673, SLC9A1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2501418	NM_003047.5(SLC9A1):c.1522G>C (p.Val508Leu)	SLC9A1 (V508L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500670	NM_003047.5(SLC9A1):c.1556A>G (p.Asn519Ser)	SLC9A1 (N519S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2491643	NM_003047.5(SLC9A1):c.898G>A (p.Val300Met)	SLC9A1 (V300M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486376	NM_003047.5(SLC9A1):c.976A>G (p.Ile326Val)	SLC9A1 (I326V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457247	NM_003047.5(SLC9A1):c.2275G>A (p.Asp759Asn)	SLC9A1 (D759N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441715	NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)	SLC9A1 (D59V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2428921	NM_003047.5(SLC9A1):c.409G>A (p.Val137Met)	SLC9A1 (V137M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416337	NM_003047.5(SLC9A1):c.1542G>A (p.Thr514=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413574	NM_003047.5(SLC9A1):c.1212C>T (p.Ala404=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413268	NM_003047.5(SLC9A1):c.1632C>T (p.His544=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406178	NM_003047.5(SLC9A1):c.2237G>A (p.Arg746Gln)	SLC9A1 (R746Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404939	NM_003047.5(SLC9A1):c.1849G>A (p.Glu617Lys)	SLC9A1 (E617K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331034	NM_003047.5(SLC9A1):c.1911C>A (p.Asn637Lys)	SLC9A1 (N637K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291203	NM_003047.5(SLC9A1):c.2020C>T (p.Arg674Trp)	SLC9A1 (R674W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277284	NM_003047.5(SLC9A1):c.2208G>C (p.Glu736Asp)	SLC9A1 (E736D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274285	NM_003047.5(SLC9A1):c.2101A>G (p.Ile701Val)	SLC9A1 (I701V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252554	NM_003047.5(SLC9A1):c.241C>G (p.His81Asp)	SLC9A1 (H81D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246913	NM_003047.5(SLC9A1):c.635G>T (p.Cys212Phe)	SLC9A1 (C212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243177	NM_003047.5(SLC9A1):c.202A>C (p.Thr68Pro)	SLC9A1 (T68P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235726	NM_003047.5(SLC9A1):c.1967C>G (p.Ala656Gly)	SLC9A1 (A656G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229408	NM_003047.5(SLC9A1):c.2236C>T (p.Arg746Trp)	SLC9A1 (R746W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207658	NM_003047.5(SLC9A1):c.2272G>A (p.Asp758Asn)	SLC9A1 (D758N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2198215	NM_003047.5(SLC9A1):c.2371A>G (p.Ile791Val)	SLC9A1 (I791V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2192601	NM_003047.5(SLC9A1):c.1895G>A (p.Arg632His)	SLC9A1 (R632H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192131	NM_003047.5(SLC9A1):c.591G>A (p.Thr197=)	SLC9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186892	NM_003047.5(SLC9A1):c.254C>T (p.Pro85Leu)	SLC9A1 (P85L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180977	NM_003047.5(SLC9A1):c.1936-5_1936-4inv	SLC9A1	Inversion (intron variant)	not provided	GUncertain significance
Select item 2170523	NM_003047.5(SLC9A1):c.529del (p.Leu177fs)	SLC9A1 (L177fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2166502	NM_003047.5(SLC9A1):c.1407G>A (p.Leu469=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2153498	NM_003047.5(SLC9A1):c.927C>T (p.Gly309=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2150428	NM_003047.5(SLC9A1):c.855C>T (p.His285=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2146575	NM_003047.5(SLC9A1):c.1206G>A (p.Thr402=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143760	NM_003047.5(SLC9A1):c.1647-15TCC[4]	SLC9A1	Microsatellite (intron variant)	not provided	GBenign
Select item 2130054	NM_003047.5(SLC9A1):c.1473C>T (p.Thr491=)	LOC126805673, SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114029	NM_003047.5(SLC9A1):c.353-17TC[2]	SLC9A1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2105291	NM_003047.5(SLC9A1):c.687C>T (p.Leu229=)	SLC9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097931	NM_003047.5(SLC9A1):c.2092C>A (p.Arg698=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2096042	NM_003047.5(SLC9A1):c.1894C>T (p.Arg632Cys)	SLC9A1 (R632C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2073193	NM_003047.5(SLC9A1):c.640G>A (p.Val214Met)	SLC9A1 (V214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072823	NM_003047.5(SLC9A1):c.160G>C (p.Glu54Gln)	SLC9A1 (E54Q)	Single nucleotide variant (missense variant +1 more)	SLC9A1-related disorder +1 more	GLikely benign
Select item 2070633	NM_003047.5(SLC9A1):c.2357C>T (p.Pro786Leu)	SLC9A1 (P786L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069991	NM_003047.5(SLC9A1):c.2397C>G (p.Gly799=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069505	NM_003047.5(SLC9A1):c.2271C>T (p.Asp757=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065968	NM_003047.5(SLC9A1):c.2136G>A (p.Glu712=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2063483	NM_003047.5(SLC9A1):c.1890G>T (p.Glu630Asp)	SLC9A1 (E630D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055457	NM_003047.5(SLC9A1):c.2181C>T (p.Pro727=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2054863	NM_003047.5(SLC9A1):c.691G>A (p.Gly231Ser)	SLC9A1 (G231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049412	NM_003047.5(SLC9A1):c.2259G>A (p.Glu753=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2047117	NM_003047.5(SLC9A1):c.2274C>T (p.Asp758=)	SLC9A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2042192	NM_003047.5(SLC9A1):c.592C>T (p.Leu198=)	SLC9A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023268	NM_003047.5(SLC9A1):c.1064+4A>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2021002	NM_003047.5(SLC9A1):c.2393C>T (p.Pro798Leu)	SLC9A1 (P798L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008674	NM_003047.5(SLC9A1):c.1011C>T (p.Tyr337=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998727	NM_003047.5(SLC9A1):c.2227G>C (p.Gly743Arg)	SLC9A1 (G743R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994637	NM_003047.5(SLC9A1):c.241C>A (p.His81Asn)	SLC9A1 (H81N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991339	NM_003047.5(SLC9A1):c.2293C>T (p.Arg765Trp)	SLC9A1 (R765W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1988680	NM_003047.5(SLC9A1):c.1936-16G>A	SLC9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988102	NM_003047.5(SLC9A1):c.2037+19T>G	SLC9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1984828	NM_003047.5(SLC9A1):c.897C>T (p.Phe299=)	SLC9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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