ClinVar for Gene (Select 122961) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064676	NM_194279.4(ISCA2):c.71+3A>T	ISCA2	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 4	GUncertain significance
Select item 2997856	NM_194279.4(ISCA2):c.33C>G (p.Ala11=)	ISCA2, LOC130056095	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980890	NM_194279.4(ISCA2):c.290+13G>A	ISCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2860963	NM_194279.4(ISCA2):c.126C>T (p.Ser42=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740585	NM_194279.4(ISCA2):c.154C>T (p.Leu52Phe)	ISCA2 (L52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2628077	NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile)	ISCA2 (R105I)	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 4	GUncertain significance
Select item 2582923	NM_194279.4(ISCA2):c.125G>T (p.Ser42Ile)	ISCA2 (S42I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581360	NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly)	ISCA2 (R105G)	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 4	GLikely pathogenic
Select item 2523785	NM_194279.4(ISCA2):c.422A>G (p.Gln141Arg)	ISCA2 (Q141R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2489640	NM_194279.4(ISCA2):c.341C>T (p.Ala114Val)	ISCA2 (A114V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427624	NC_000014.8:g.(?_74961509)_(74961703_?)del	ISCA2	Deletion	not provided	GUncertain significance
Select item 2418057	NM_194279.4(ISCA2):c.144G>A (p.Gly48=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365363	NM_194279.4(ISCA2):c.133G>A (p.Ala45Thr)	ISCA2 (A45T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288035	NM_194279.4(ISCA2):c.139G>T (p.Glu47Ter)	ISCA2 (E47*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2268198	NM_194279.4(ISCA2):c.146A>T (p.Gln49Leu)	ISCA2 (Q49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223692	NM_194279.4(ISCA2):c.322G>C (p.Val108Leu)	ISCA2 (V108L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2143472	NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu)	ISCA2 (Q141L)	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 4 +1 more	GUncertain significance
Select item 2124307	NM_194279.4(ISCA2):c.263T>A (p.Leu88Gln)	ISCA2 (L88Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114845	NM_194279.4(ISCA2):c.453dup (p.Ile152fs)	ISCA2 (I152fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2105402	NM_194279.4(ISCA2):c.304G>T (p.Gly102Cys)	ISCA2 (G102C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2076247	NM_194279.4(ISCA2):c.37_39del (p.Thr13del)	ISCA2, LOC130056095 (T13del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2070017	NM_194279.4(ISCA2):c.125G>A (p.Ser42Asn)	ISCA2 (S42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038283	NM_194279.4(ISCA2):c.329C>A (p.Ser110Tyr)	ISCA2 (S110Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2009797	NM_194279.4(ISCA2):c.412C>T (p.Pro138Ser)	ISCA2 (P138S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002658	NM_194279.4(ISCA2):c.67G>C (p.Gly23Arg)	LOC130056095, ISCA2 (G23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002295	NM_194279.4(ISCA2):c.175-17C>G	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990181	NM_194279.4(ISCA2):c.111G>A (p.Glu37=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958521	NM_194279.4(ISCA2):c.158_159del (p.Thr53fs)	ISCA2 (T53fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1952399	NM_194279.4(ISCA2):c.24C>T (p.Ser8=)	ISCA2, LOC130056095	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933474	NM_194279.4(ISCA2):c.175-10T>G	ISCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1928312	NM_194279.4(ISCA2):c.78C>T (p.Leu26=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927171	NM_194279.4(ISCA2):c.175-11C>G	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1713685	NM_194279.4(ISCA2):c.200C>T (p.Ser67Leu)	ISCA2 (S67L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1702668	NM_194279.4(ISCA2):c.254A>G (p.Lys85Arg)	ISCA2 (K85R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1669050	NM_194279.4(ISCA2):c.21G>C (p.Ser7=)	LOC130056095, ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667209	NM_194279.4(ISCA2):c.345C>T (p.Phe115=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1655967	NM_194279.4(ISCA2):c.420A>C (p.Ala140=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1638426	NM_194279.4(ISCA2):c.72-20C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613116	NM_194279.4(ISCA2):c.71+10C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1597114	NM_194279.4(ISCA2):c.83C>T (p.Ala28Val)	ISCA2 (A28V)	Single nucleotide variant (missense variant)	ISCA2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1560167	NM_194279.4(ISCA2):c.153C>T (p.Arg51=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1546354	NM_194279.4(ISCA2):c.175-12C>A	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546023	NM_194279.4(ISCA2):c.51C>A (p.Val17=)	ISCA2, LOC130056095	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504087	NM_194279.4(ISCA2):c.380T>C (p.Leu127Pro)	ISCA2 (L127P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1475543	NM_194279.4(ISCA2):c.29C>T (p.Thr10Met)	ISCA2, LOC130056095 (T10M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443965	NM_194279.4(ISCA2):c.62C>T (p.Pro21Leu)	ISCA2, LOC130056095 (P21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398768	NM_194279.4(ISCA2):c.437G>A (p.Cys146Tyr)	ISCA2 (C146Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1388768	NM_194279.4(ISCA2):c.150C>G (p.Ile50Met)	ISCA2 (I50M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383672	NM_194279.4(ISCA2):c.291-3C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1377994	NM_194279.4(ISCA2):c.174+6_174+8del	ISCA2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1340029	GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3	ABCD4, ALDH6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1215027	NM_194279.4(ISCA2):c.116C>A (p.Ser39Ter)	ISCA2 (S39*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1214846	NM_194279.4(ISCA2):c.*304C>T	ISCA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1202365	NM_194279.4(ISCA2):c.75C>T (p.Leu25=)	ISCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1188021	NM_194279.4(ISCA2):c.71+31G>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178790	NC_000014.9:g.74493664T>C	ISCA2	Single nucleotide variant	not provided	GBenign
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1141787	NM_194279.4(ISCA2):c.72-5C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1031786	NM_194279.4(ISCA2):c.361G>T (p.Val121Leu)	ISCA2 (V121L)	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 4 +1 more	GUncertain significance
Select item 680619	NM_194279.4(ISCA2):c.291-177C>T	ISCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638308	NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr)	ISCA2 (A119T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 545531	NM_194279.4(ISCA2):c.297del (p.Phe99fs)	ISCA2 (F99fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 523611	NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly)	ISCA2 (S112G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 516403	NM_194279.4(ISCA2):c.175-14T>C	ISCA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 514788	NM_194279.4(ISCA2):c.300A>G (p.Glu100=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 511287	NM_194279.4(ISCA2):c.429C>G (p.Gly143=)	ISCA2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 390696	NM_194279.3(ISCA2):c.-34G>A	ISCA2	Single nucleotide variant	not specified	GLikely benign
Select item 386507	NM_194279.4(ISCA2):c.130G>C (p.Glu44Gln)	ISCA2 (E44Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 386276	NM_194279.4(ISCA2):c.-6A>C	ISCA2, LOC130056095	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384212	NM_194279.3(ISCA2):c.-20G>A	ISCA2	Single nucleotide variant	not specified	GLikely benign
Select item 380561	NM_194279.4(ISCA2):c.290+10A>C	ISCA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 380555	NM_194279.3(ISCA2):c.-36C>A	ISCA2	Single nucleotide variant	not specified	GBenign
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic
Select item 183353	NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	ISCA2 (G77S)	Single nucleotide variant (missense variant +1 more)	Fatal multiple mitochondrial dysfunctions syndrome +2 more	GPathogenic/Likely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

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Items: 87