ClinVar for Gene (Select 84679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067770	NM_001257291.2(SLC9A7):c.390C>T (p.Leu130=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3036772	NM_001257291.2(SLC9A7):c.1032G>C (p.Val344=)	SLC9A7	Single nucleotide variant (synonymous variant +1 more)	SLC9A7-related condition	GLikely benign
Select item 3025799	NM_001257291.2(SLC9A7):c.2044G>A (p.Ala682Thr)	SLC9A7 (A681T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025732	NM_001257291.2(SLC9A7):c.74T>C (p.Leu25Pro)	LOC130068197, SLC9A7 (L25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018491	NM_001257291.2(SLC9A7):c.2043C>T (p.Thr681=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009453	NM_001257291.2(SLC9A7):c.526-5_526-4insA	SLC9A7	Insertion (intron variant)	not provided	GLikely benign
Select item 3001760	NM_001257291.2(SLC9A7):c.1617-3C>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981697	NM_001257291.2(SLC9A7):c.325+10C>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971499	NM_001257291.2(SLC9A7):c.1463-16T>C	SLC9A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959579	NM_001257291.2(SLC9A7):c.1351-20A>G	SLC9A7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2959144	NM_001257291.2(SLC9A7):c.2036C>T (p.Ser679Leu)	SLC9A7 (S678L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885488	NM_001257291.2(SLC9A7):c.1740+9C>A	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874478	NM_001257291.2(SLC9A7):c.77_85dup (p.Leu28_Leu29insProLeuLeu)	LOC130068197, SLC9A7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2844093	NM_001257291.2(SLC9A7):c.2173_2175del (p.Asn725del)	SLC9A7 (N725del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2803755	NM_001257291.2(SLC9A7):c.325+7A>G	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796465	NM_001257291.2(SLC9A7):c.1929T>C (p.Asp643=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2792482	NM_001257291.2(SLC9A7):c.326-11C>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749500	NM_001257291.2(SLC9A7):c.326-2A>C	SLC9A7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2727867	NM_001257291.2(SLC9A7):c.1389G>A (p.Pro463=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722482	NM_001257291.2(SLC9A7):c.105C>G (p.Val35=)	LOC130068197, SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722481	NM_001257291.2(SLC9A7):c.114GGCCTC[3] (p.Ser42_Ser43insAlaSer)	SLC9A7, LOC130068197	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2690037	NM_001257291.2(SLC9A7):c.460A>G (p.Thr154Ala)	SLC9A7 (T154A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2673227	NM_001257291.2(SLC9A7):c.1843A>T (p.Thr615Ser)	SLC9A7 (T614S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664831	NM_001257291.2(SLC9A7):c.706C>A (p.Leu236Ile)	SLC9A7 (L236I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2660393	NM_001257291.2(SLC9A7):c.106GCGGCC[3] (p.Ala39_Ser40insAlaAla)	LOC130068197, SLC9A7	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2660392	NM_001257291.2(SLC9A7):c.520C>T (p.Arg174Trp)	SLC9A7 (R174W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660391	NM_001257291.2(SLC9A7):c.1086G>A (p.Thr362=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660390	NM_001257291.2(SLC9A7):c.1373C>T (p.Ala458Val)	SLC9A7 (A457V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660389	NM_001257291.2(SLC9A7):c.1626C>T (p.Val542=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660388	NM_001257291.2(SLC9A7):c.1802T>C (p.Leu601Pro)	SLC9A7 (L600P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660387	NM_001257291.2(SLC9A7):c.1911C>G (p.Thr637=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622573	NM_001257291.2(SLC9A7):c.981T>G (p.Phe327Leu)	SLC9A7 (F327L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615651	NM_001257291.2(SLC9A7):c.1808A>G (p.Tyr603Cys)	SLC9A7 (Y603C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594111	NM_001257291.2(SLC9A7):c.7C>T (p.Pro3Ser)	LOC130068197, SLC9A7 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580737	NM_001257291.2(SLC9A7):c.158C>T (p.Ala53Val)	SLC9A7 (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580018	NM_001257291.2(SLC9A7):c.900G>A (p.Ser300=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2574484	NM_001257291.2(SLC9A7):c.700G>A (p.Val234Met)	SLC9A7 (V234M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574230	NM_001257291.2(SLC9A7):c.1702C>T (p.Pro568Ser)	SLC9A7 (P567S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570113	NM_001257291.2(SLC9A7):c.1865C>T (p.Thr622Ile)	SLC9A7 (T621I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541264	NM_001257291.2(SLC9A7):c.455A>G (p.Glu152Gly)	SLC9A7 (E152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505691	NM_001257291.2(SLC9A7):c.1853G>T (p.Gly618Val)	SLC9A7 (G617V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503360	NM_001257291.2(SLC9A7):c.1283A>G (p.Tyr428Cys)	SLC9A7 (Y427C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502624	NM_001257291.2(SLC9A7):c.1252C>T (p.His418Tyr)	SLC9A7 (H417Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499177	NM_001257291.2(SLC9A7):c.256C>T (p.Leu86Phe)	SLC9A7 (L86F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499132	NM_001257291.2(SLC9A7):c.1834C>T (p.Pro612Ser)	SLC9A7 (P611S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2442705	NM_001257291.2(SLC9A7):c.77_82dup (p.Leu27_Leu28insProLeu)	LOC130068197, SLC9A7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2436082	NM_001257291.2(SLC9A7):c.1667A>G (p.Gln556Arg)	SLC9A7 (Q555R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436081	NM_001257291.2(SLC9A7):c.2171A>T (p.Asp724Val)	SLC9A7 (D723V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436080	NM_001257291.2(SLC9A7):c.1693G>A (p.Asp565Asn)	SLC9A7 (D564N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436079	NM_001257291.2(SLC9A7):c.1999G>A (p.Gly667Arg)	SLC9A7 (G666R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2430315	NM_001257291.2(SLC9A7):c.1744G>T (p.Gly582Cys)	SLC9A7 (G581C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2427222	NC_000023.10:g.(?_46466387)_(47489243_?)del	ARAF, CDK16 +15 more	Deletion	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425665	NC_000023.10:g.(?_46466387)_(46719557_?)dup	RP2, SLC9A7	Duplication	not provided	GUncertain significance
Select item 2425664	NC_000023.10:g.(?_46466387)_(46719557_?)del	RP2, SLC9A7	Deletion	not provided	GPathogenic
Select item 2425661	NC_000023.10:g.(?_46466387)_(46739204_?)dup	RP2, SLC9A7	Duplication	not provided	GUncertain significance
Select item 2425660	NC_000023.10:g.(?_46480392)_(46739204_?)del	RP2, SLC9A7	Deletion	not provided	GPathogenic
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2405505	NM_001257291.2(SLC9A7):c.104T>G (p.Val35Gly)	LOC130068197, SLC9A7 (V35G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402279	NM_001257291.2(SLC9A7):c.2147C>T (p.Thr716Ile)	SLC9A7 (T716I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373846	NM_001257291.2(SLC9A7):c.146A>C (p.Glu49Ala)	SLC9A7 (E49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353919	NM_001257291.2(SLC9A7):c.1330A>G (p.Ile444Val)	SLC9A7 (I443V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2325561	NM_001257291.2(SLC9A7):c.806C>T (p.Ala269Val)	SLC9A7 (A269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306282	NM_001257291.2(SLC9A7):c.58C>T (p.Pro20Ser)	LOC130068197, SLC9A7 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298309	NM_001257291.2(SLC9A7):c.2069G>A (p.Arg690Gln)	SLC9A7 (R689Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291619	NM_001257291.2(SLC9A7):c.947A>C (p.Asp316Ala)	SLC9A7 (D316A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272914	NM_001257291.2(SLC9A7):c.643G>T (p.Ala215Ser)	SLC9A7 (A215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262080	NM_001257291.2(SLC9A7):c.1042G>A (p.Val348Met)	SLC9A7 (V348M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261479	NM_001257291.2(SLC9A7):c.106G>C (p.Ala36Pro)	LOC130068197, SLC9A7 (A36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239647	NM_001257291.2(SLC9A7):c.2135C>G (p.Ser712Trp)	SLC9A7 (S712W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201170	NM_001257291.2(SLC9A7):c.2037G>A (p.Ser679=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196468	NM_001257291.2(SLC9A7):c.1986G>A (p.Leu662=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195689	NM_001257291.2(SLC9A7):c.1463-4G>A	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2192973	NM_001257291.2(SLC9A7):c.604-19GTTT[2]	SLC9A7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2172049	NM_001257291.2(SLC9A7):c.1603T>C (p.Trp535Arg)	SLC9A7 (W534R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2152611	NM_001257291.2(SLC9A7):c.1462+10C>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2136020	NM_001257291.2(SLC9A7):c.1985T>C (p.Leu662Pro)	SLC9A7 (L661P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118090	NM_001257291.2(SLC9A7):c.396C>T (p.Cys132=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066898	NM_001257291.2(SLC9A7):c.213C>T (p.Ser71=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064504	NM_001257291.2(SLC9A7):c.1317C>T (p.His439=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2053249	NM_001257291.2(SLC9A7):c.73_87del (p.Leu25_Leu29del)	LOC130068197, SLC9A7	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2045004	NM_001257291.2(SLC9A7):c.661G>A (p.Val221Ile)	SLC9A7 (V221I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043847	NM_001257291.2(SLC9A7):c.2073A>G (p.Arg691=)	SLC9A7	Single nucleotide variant (synonymous variant)	SLC9A7-related condition +1 more	GBenign
Select item 2030699	NM_001257291.2(SLC9A7):c.1223G>C (p.Ser408Thr)	SLC9A7 (S407T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989412	NM_001257291.2(SLC9A7):c.681-11C>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1983135	NM_001257291.2(SLC9A7):c.1164T>C (p.Leu388=)	SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982095	NM_001257291.2(SLC9A7):c.1624G>A (p.Val542Ile)	SLC9A7 (V542I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952891	NM_001257291.2(SLC9A7):c.1042-2A>G	SLC9A7 (N346S)	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1943075	NM_001257291.2(SLC9A7):c.1324A>C (p.Ser442Arg)	SLC9A7 (S441R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911236	NM_001257291.2(SLC9A7):c.1930-11G>T	SLC9A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909336	NM_001257291.2(SLC9A7):c.1505C>T (p.Thr502Met)	SLC9A7 (T502M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896540	NM_001257291.2(SLC9A7):c.634C>G (p.Leu212Val)	SLC9A7 (L212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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