SLC9B1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 156218	NM_001008388.4(CISD2):c.(104_304)-84_318+724del	CISD2, SLC9B1	Deletion	Wolfram syndrome 2	GPathogenic
Select item 1539643	NM_001008388.5(CISD2):c.104-10A>G	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 716908	NM_001008388.5(CISD2):c.104-9C>A	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +2 more)	Wolfram syndrome 2 +2 more	GBenign/Likely benign
Select item 892	NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)	SLC9B1, CISD2	Single nucleotide variant (3 prime UTR variant +2 more)	Wolfram syndrome 2	GPathogenic
Select item 2129531	NM_001008388.5(CISD2):c.118C>T (p.Arg40Trp)	CISD2, SLC9B1 (R40W)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1668264	NM_001008388.5(CISD2):c.120G>A (p.Arg40=)	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1994957	NM_001008388.5(CISD2):c.142C>T (p.Leu48Phe)	CISD2, SLC9B1 (L48F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2188144	NM_001008388.5(CISD2):c.144C>T (p.Leu48=)	CISD2, SLC9B1 (E469K)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2420837	NM_001008388.5(CISD2):c.170G>A (p.Arg57His)	CISD2, SLC9B1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421620	NM_001008388.5(CISD2):c.182C>T (p.Pro61Leu)	CISD2, SLC9B1 (P61L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934525	NM_001008388.5(CISD2):c.183G>A (p.Pro61=)	SLC9B1, CISD2 (R456W)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2000570	NM_001008388.5(CISD2):c.204T>C (p.Asp68=)	CISD2, SLC9B1 (I449V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 377140	NM_001008388.5(CISD2):c.224T>C (p.Ile75Thr)	SLC9B1, CISD2 (I75T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2102705	NM_001008388.5(CISD2):c.226C>A (p.Gln76Lys)	CISD2, SLC9B1 (Q76K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447415	NM_001008388.5(CISD2):c.227A>T (p.Gln76Leu)	CISD2, SLC9B1 (Q76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117284	NM_001008388.5(CISD2):c.228A>G (p.Gln76=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1937958	NM_001008388.5(CISD2):c.235A>T (p.Asn79Tyr)	CISD2, SLC9B1 (N79Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448359	NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu)	CISD2, SLC9B1 (P80L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 136775	NM_001008388.5(CISD2):c.240G>A (p.Pro80=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	Wolfram syndrome 2 +1 more	GBenign/Likely benign
Select item 1946486	NM_001008388.5(CISD2):c.264T>A (p.Ile88=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745094	NM_001008388.5(CISD2):c.294T>C (p.Tyr98=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405133	NM_001008388.5(CISD2):c.298A>G (p.Arg100Gly)	CISD2, SLC9B1 (R100G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914913	NM_001008388.5(CISD2):c.300G>A (p.Arg100=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135135	NM_001008388.5(CISD2):c.318+16A>T	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640290	NM_001008388.5(CISD2):c.318+17C>T	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784290	NM_001008388.5(CISD2):c.318+18G>A	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086486	NM_001008388.5(CISD2):c.318+19T>C	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169046	NM_001008388.5(CISD2):c.318+20G>A	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508006	NM_001008388.5(CISD2):c.319-20T>C	CISD2, SLC9B1	Single nucleotide variant (intron variant)	Wolfram syndrome 2 +2 more	GLikely benign
Select item 1364780	NM_001008388.5(CISD2):c.325G>A (p.Ala109Thr)	CISD2, SLC9B1 (A109T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516867	NM_001008388.5(CISD2):c.336T>C (p.Gly112=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1640773	NM_001008388.5(CISD2):c.393G>A (p.Lys131=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1540793	NM_001008388.5(CISD2):c.396G>A (p.Lys132=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1346405	NM_001008388.5(CISD2):c.403G>A (p.Val135Ile)	CISD2, SLC9B1 (V135I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1049260	NM_001008388.5(CISD2):c.*79C>A	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2503084	NM_139173.4(SLC9B1):c.1338_1339del (p.Leu447fs)	SLC9B1 (L447fs)	Microsatellite (frameshift variant +1 more)	Usher syndrome	GPathogenic
Select item 3067388	NM_139173.4(SLC9B1):c.1338G>T (p.Val446=)	SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2525141	NM_139173.4(SLC9B1):c.1333G>C (p.Ala445Pro)	SLC9B1 (A445P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295134	NM_139173.4(SLC9B1):c.1145G>A (p.Gly382Asp)	SLC9B1 (G382D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511271	NM_139173.4(SLC9B1):c.1108A>G (p.Thr370Ala)	SLC9B1 (T370A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2265068	NM_139173.4(SLC9B1):c.1007G>A (p.Arg336His)	SLC9B1 (R336H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295081	NM_139173.4(SLC9B1):c.1005A>T (p.Gln335His)	SLC9B1 (Q335H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2654985	NM_139173.4(SLC9B1):c.804A>G (p.Thr268=)	SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386022	NM_139173.4(SLC9B1):c.794G>C (p.Gly265Ala)	SLC9B1 (G265A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516009	NM_139173.4(SLC9B1):c.769A>G (p.Met257Val)	SLC9B1 (M257V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362543	NM_139173.4(SLC9B1):c.730G>A (p.Glu244Lys)	SLC9B1 (E244K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487924	NM_139173.4(SLC9B1):c.724G>A (p.Gly242Ser)	SLC9B1 (G242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226012	NM_139173.4(SLC9B1):c.682G>A (p.Val228Ile)	SLC9B1 (V228I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165740	NM_139173.4(SLC9B1):c.643T>C (p.Phe215Leu)	SLC9B1 (F215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545844	NM_139173.4(SLC9B1):c.541A>G (p.Lys181Glu)	SLC9B1 (K181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614335	NM_139173.4(SLC9B1):c.517G>A (p.Asp173Asn)	SLC9B1 (D173N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215258	NM_139173.4(SLC9B1):c.517G>C (p.Asp173His)	SLC9B1 (D173H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369678	NM_139173.4(SLC9B1):c.487A>G (p.Ile163Val)	SLC9B1 (I163V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391223	NM_139173.4(SLC9B1):c.364C>T (p.Pro122Ser)	SLC9B1 (P122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286402	NM_139173.4(SLC9B1):c.320T>C (p.Ile107Thr)	SLC9B1 (I107T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165739	NM_139173.4(SLC9B1):c.250A>G (p.Ile84Val)	SLC9B1 (I84V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2617198	NM_139173.4(SLC9B1):c.155A>G (p.Lys52Arg)	SLC9B1 (K52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541113	NM_139173.4(SLC9B1):c.127A>G (p.Thr43Ala)	SLC9B1 (T43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554646	NM_139173.4(SLC9B1):c.115G>T (p.Val39Phe)	SLC9B1 (V39F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282525	NM_139173.4(SLC9B1):c.104A>C (p.Glu35Ala)	SLC9B1 (E35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355079	NM_139173.4(SLC9B1):c.97C>T (p.Gln33Ter)	SLC9B1 (Q33*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3165742	NM_139173.4(SLC9B1):c.81T>G (p.Asp27Glu)	SLC9B1 (D27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623112	NM_139173.4(SLC9B1):c.71G>C (p.Ser24Thr)	SLC9B1 (S24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2573447	NC_000004.11:g.(103790345_103806372)_(103813965_?)del	CISD2, SLC9B1	Deletion	Wolfram syndrome 2	GPathogenic
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	SLC39A8, TBCK +19 more	Duplication	not provided	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	BANK1, BDH2 +11 more	Deletion	not provided	GPathogenic
Select item 2423442	NC_000004.11:g.(?_102001669)_(103806607_?)del	BANK1, CISD2 +6 more	Deletion	not provided	GPathogenic
Select item 1703532	GRCh37/hg19 4q24(chr4:102851823-104641864)	SLC39A8, SLC9B1 +9 more	Copy number loss	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1456123	NC_000004.11:g.(?_101947022)_(104640832_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814592	GRCh37/hg19 4q24(chr4:103865132-105720367)x1	TACR3, SLC9B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684941	GRCh37/hg19 4q24(chr4:103900089-103940328)x1	SLC9B1	Copy number loss	not provided	GUncertain significance
Select item 562949	GRCh37/hg19 4q24(chr4:103846070-104693179)x3	BDH2, SLC9B1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 83