CISD2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 506867	NM_001008388.5(CISD2):c.-32G>A	CISD2, LOC129992891	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1705457	NM_001008388.5(CISD2):c.3G>A (p.Met1Ile)	CISD2, LOC129992891 (M1I)	Single nucleotide variant (missense variant +1 more)	Wolfram syndrome 2	GUncertain significance
Select item 2238975	NM_001008388.5(CISD2):c.10G>C (p.Glu4Gln)	CISD2, LOC129992891 (E4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288522	NM_001008388.5(CISD2):c.12G>A (p.Glu4=)	CISD2, LOC129992891	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2014382	NM_001008388.5(CISD2):c.19G>A (p.Ala7Thr)	CISD2 (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985658	NM_001008388.5(CISD2):c.21C>T (p.Ala7=)	CISD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792891	NM_001008388.5(CISD2):c.48A>C (p.Ala16=)	CISD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731902	NM_001008388.5(CISD2):c.52C>T (p.Leu18=)	CISD2, LOC129992892	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749103	NM_001008388.5(CISD2):c.60G>C (p.Arg20=)	CISD2, LOC129992892	Single nucleotide variant (synonymous variant)	Wolfram syndrome 2 +1 more	GBenign/Likely benign
Select item 1513999	NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile)	CISD2, LOC129992892 (T28I)	Single nucleotide variant (missense variant)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 2072769	NM_001008388.5(CISD2):c.84C>G (p.Thr28=)	CISD2, LOC129992892	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476052	NM_001008388.5(CISD2):c.92C>T (p.Ala31Val)	CISD2, LOC129992892 (A31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638297	NM_001008388.5(CISD2):c.103+1G>A	CISD2, LOC129992892	Single nucleotide variant (splice donor variant)	Wolfram syndrome 2	GPathogenic
Select item 2199282	NM_001008388.5(CISD2):c.103+5T>G	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1349559	NM_001008388.5(CISD2):c.103+6C>A	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1950325	NM_001008388.5(CISD2):c.103+9C>T	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021755	NM_001008388.5(CISD2):c.103+12C>G	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965376	NM_001008388.5(CISD2):c.103+12C>T	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961148	NM_001008388.5(CISD2):c.103+13C>T	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611992	NM_001008388.5(CISD2):c.103+14A>C	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745181	NM_001008388.5(CISD2):c.103+16C>G	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654984	NM_001008388.5(CISD2):c.103+5353C>G	CISD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	not provided +1 more	GBenign/Likely benign
Select item 892	NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)	CISD2, SLC9B1	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 3267437	NM_001008388.5(CISD2):c.157T>C (p.Tyr53His)	CISD2, SLC9B1 (Y53H)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
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=)	CISD2, SLC9B1 (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)	CISD2, SLC9B1 (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)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 136775	NM_001008388.5(CISD2):c.240G>A (p.Pro80=)	SLC9B1, CISD2	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)	SLC9B1, CISD2 (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)	not specified +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 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 3246712	NC_000004.11:g.(?_103790242)_(103806607_?)del	CISD2, SLC9B1	Deletion	not provided	GPathogenic
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	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685124	GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1	BANK1, CISD2 +12 more	Copy number loss	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	AIMP1, ARHGEF38 +19 more	Duplication	not provided	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	TACR3, CISD2 +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	Beta-D-mannosidosis	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 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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 78