2744[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3054076	NM_014905.5(GLS):c.-212GCA[24]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3054034	NM_014905.5(GLS):c.-212GCA[23]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3047419	NM_014905.5(GLS):c.-212GCA[19]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3030444	NM_014905.5(GLS):c.-212GCA[26]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 1879513	NM_014905.5(GLS):c.-212GCA[21]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 626335	NM_014905.5(GLS):c.-212GCA[680]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	Global developmental delay, progressive ataxia, and elevated glutamine	GPathogenic
Select item 3054764	NM_014905.5(GLS):c.-212GCA[11]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3047867	NM_014905.5(GLS):c.-212GCA[12]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3047628	NM_014905.5(GLS):c.-212GCA[13]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3032445	NM_014905.5(GLS):c.-212GCA[9]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 3031213	NM_014905.5(GLS):c.-212GCA[6]	GLS, LOC129935268	Microsatellite (5 prime UTR variant)	GLS-related condition	GLikely benign
Select item 1806017	NM_014905.5(GLS):c.7C>T (p.Arg3Trp)	GLS (R3W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GUncertain significance
Select item 2474798	NM_014905.5(GLS):c.66C>G (p.Ser22Arg)	GLS (S22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548625	NM_014905.5(GLS):c.74T>G (p.Leu25Arg)	GLS (L25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241759	NM_014905.5(GLS):c.79C>G (p.Arg27Gly)	GLS (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338690	NM_014905.5(GLS):c.124G>A (p.Gly42Arg)	GLS (G42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041394	NM_014905.5(GLS):c.125G>A (p.Gly42Glu)	GLS (G42E)	Single nucleotide variant (missense variant)	GLS-related condition	GLikely benign
Select item 2432171	NM_014905.5(GLS):c.125G>T (p.Gly42Val)	GLS (G42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356559	NM_014905.5(GLS):c.149C>A (p.Ala50Asp)	GLS, LOC129935269 (A50D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2664197	NM_014905.5(GLS):c.189G>T (p.Trp63Cys)	GLS, LOC129935269 (W63C)	Single nucleotide variant (missense variant)	Global developmental delay, progressive ataxia, and elevated glutamine	GUncertain significance
Select item 2403084	NM_014905.5(GLS):c.194C>T (p.Ala65Val)	GLS, LOC129935269 (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651764	NM_014905.5(GLS):c.217T>C (p.Ser73Pro)	GLS (S73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610311	NM_014905.5(GLS):c.218C>T (p.Ser73Phe)	GLS (S73F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043984	NM_014905.5(GLS):c.228T>C (p.Pro76=)	GLS	Single nucleotide variant (synonymous variant)	GLS-related condition	GLikely benign
Select item 3032963	NM_014905.5(GLS):c.229T>G (p.Ser77Ala)	GLS (S77A)	Single nucleotide variant (missense variant)	GLS-related condition	GUncertain significance
Select item 2304627	NM_014905.5(GLS):c.229T>C (p.Ser77Pro)	GLS (S77P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618997	NM_014905.5(GLS):c.241C>T (p.Gln81Ter)	GLS (Q81*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 2327835	NM_014905.5(GLS):c.263C>G (p.Thr88Arg)	GLS, LOC129935270 (T88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043609	NM_014905.5(GLS):c.266A>C (p.His89Pro)	GLS, LOC129935270 (H89P)	Single nucleotide variant (missense variant)	GLS-related condition	GBenign
Select item 2651765	NM_014905.5(GLS):c.281T>G (p.Val94Gly)	GLS, LOC129935270 (V94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634709	NM_014905.5(GLS):c.286C>T (p.Pro96Ser)	GLS, LOC129935270 (P96S)	Single nucleotide variant (missense variant)	GLS-related condition	GUncertain significance
Select item 3054890	NM_014905.5(GLS):c.290C>T (p.Pro97Leu)	GLS, LOC129935270 (P97L)	Single nucleotide variant (missense variant)	GLS-related condition	GLikely benign
Select item 2381012	NM_014905.5(GLS):c.295G>A (p.Ala99Thr)	GLS, LOC129935270 (A99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2432169	NM_014905.5(GLS):c.299C>T (p.Pro100Leu)	GLS, LOC129935270 (P100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440527	NM_014905.5(GLS):c.338_339dup (p.Ala114fs)	GLS (A114fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3024784	NM_014905.5(GLS):c.387-3T>C	GLS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3031672	NM_014905.5(GLS):c.388A>G (p.Lys130Glu)	GLS (K130E)	Single nucleotide variant (missense variant)	GLS-related condition	GUncertain significance
Select item 2255630	NM_014905.5(GLS):c.422A>G (p.Asp141Gly)	GLS (D141G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478250	NM_014905.5(GLS):c.494C>G (p.Ser165Cys)	GLS (S165C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618996	NM_014905.5(GLS):c.695dup (p.Asp232fs)	GLS (D232fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 1342649	NM_014905.5(GLS):c.704A>G (p.Tyr235Cys)	GLS (Y235C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GUncertain significance
Select item 2316627	NM_014905.5(GLS):c.715A>G (p.Lys239Glu)	GLS (K239E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531318	NM_014905.5(GLS):c.734A>G (p.Lys245Arg)	GLS (K245R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385800	NM_014905.5(GLS):c.802G>A (p.Val268Ile)	GLS (V268I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618998	NM_014905.5(GLS):c.815G>A (p.Arg272Lys)	GLS (R272K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 1256052	NM_014905.5(GLS):c.866A>T (p.Lys289Ile)	GLS (K289I)	Single nucleotide variant (missense variant)	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	GLikely pathogenic
Select item 2432170	NM_014905.5(GLS):c.867A>C (p.Lys289Asn)	GLS (K289N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651766	NM_014905.5(GLS):c.921A>G (p.Arg307=)	GLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626336	NM_014905.5(GLS):c.923dup (p.Tyr308Ter)	GLS (Y308*)	Duplication (nonsense)	Global developmental delay, progressive ataxia, and elevated glutamine	GPathogenic
Select item 626334	NM_014905.5(GLS):c.938C>T (p.Pro313Leu)	GLS (P313L)	Single nucleotide variant (missense variant)	Global developmental delay, progressive ataxia, and elevated glutamine	GPathogenic
Select item 3025273	NM_014905.5(GLS):c.939G>A (p.Pro313=)	GLS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404100	NM_014905.5(GLS):c.1036A>C (p.Lys346Gln)	GLS (K346Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049350	NM_014905.5(GLS):c.1037A>G (p.Lys346Arg)	GLS (K346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049930	NM_014905.5(GLS):c.1039-5dup	GLS	Duplication (intron variant)	GLS-related condition	GLikely benign
Select item 1098677	NM_014905.5(GLS):c.1048AAT[1] (p.Asn351del)	GLS (N351del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1068386	NM_014905.5(GLS):c.1072-2A>C	GLS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2581967	NM_014905.5(GLS):c.1160G>A (p.Arg387Gln)	GLS (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809127	NM_014905.5(GLS):c.1174G>A (p.Gly392Arg)	GLS (G392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500264	NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)	GLS (C424R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GLikely pathogenic
Select item 2651767	NM_014905.5(GLS):c.1294G>T (p.Ala432Ser)	GLS (A432S)	Single nucleotide variant (missense variant)	GLS-related condition +1 more	GBenign
Select item 2507063	NM_014905.5(GLS):c.1313G>A (p.Gly438Asp)	GLS (G438D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651768	NM_014905.5(GLS):c.1412A>G (p.Gln471Arg)	GLS (Q471R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3064819	NM_014905.5(GLS):c.1418C>T (p.Ala473Val)	GLS (A473V)	Single nucleotide variant (missense variant)	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	GUncertain significance
Select item 619106	NM_014905.5(GLS):c.1445C>G (p.Ser482Cys)	GLS (S482C)	Single nucleotide variant (missense variant)	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	GPathogenic
Select item 1526059	NM_014905.5(GLS):c.1460dup (p.Ile488fs)	GLS (I488fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 3024181	NM_014905.5(GLS):c.1523T>A (p.Met508Lys)	GLS (M508K)	Single nucleotide variant (missense variant)	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	GUncertain significance
Select item 3050373	NM_014905.5(GLS):c.1650+8A>C	GLS	Single nucleotide variant (intron variant)	GLS-related condition	GBenign
Select item 3039095	NM_014905.5(GLS):c.1650+1093A>G	GLS	Single nucleotide variant (synonymous variant +1 more)	GLS-related condition	GLikely benign
Select item 2636710	NM_014905.5(GLS):c.1650+1116A>C	GLS (Q563P)	Single nucleotide variant (missense variant +1 more)	GLS-related condition	GUncertain significance
Select item 3051203	NM_014905.5(GLS):c.1651-10_1651-6del	GLS	Microsatellite (intron variant)	GLS-related condition	GLikely benign
Select item 2651769	NM_014905.5(GLS):c.1662G>A (p.Val554=)	GLS	Single nucleotide variant (synonymous variant)	GLS-related condition +1 more	GLikely benign
Select item 720765	NM_014905.5(GLS):c.1683A>C (p.Ala561=)	GLS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 916560	NM_014905.5(GLS):c.1940C>T (p.Thr647Ile)	GLS (T647I)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 3039072	NM_014905.5(GLS):c.1961A>G (p.Asn654Ser)	GLS (N654S)	Single nucleotide variant (missense variant)	GLS-related condition	GBenign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808343	GRCh37/hg19 2q32.2-32.3(chr2:191686825-191908183)x3	GLS, STAT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808334	GRCh37/hg19 2q32.2-32.3(chr2:191686987-191908183)x3	GLS, STAT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807961	GRCh37/hg19 2q32.2(chr2:191796439-191859919)x1	GLS, STAT1	Copy number loss	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic

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