ISM2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 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
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3286631	NM_199296.3(ISM2):c.1678G>A (p.Glu560Lys)	ISM2 (E560K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411324	NM_199296.3(ISM2):c.1645G>A (p.Gly549Ser)	ISM2 (G549S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377257	NM_199296.3(ISM2):c.1615C>T (p.Arg539Cys)	ISM2 (R539C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602965	NM_199296.3(ISM2):c.1522G>A (p.Gly508Ser)	ISM2 (G508S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470378	NM_199296.3(ISM2):c.1508G>A (p.Arg503His)	ISM2 (R503H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286626	NM_199296.3(ISM2):c.1495C>T (p.Arg499Trp)	ISM2 (R499W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405494	NM_199296.3(ISM2):c.1465G>A (p.Ala489Thr)	ISM2 (A489T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213649	NM_199296.3(ISM2):c.1417C>T (p.Arg473Cys)	ISM2 (R473C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2479777	NM_199296.3(ISM2):c.1384C>G (p.Arg462Gly)	ISM2 (R462G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2550956	NM_199296.3(ISM2):c.1382C>T (p.Pro461Leu)	ISM2 (P461L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241621	NM_199296.3(ISM2):c.1360C>T (p.Arg454Trp)	ISM2 (R454W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111034	NM_199296.3(ISM2):c.1352G>A (p.Arg451His)	ISM2 (R451H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324015	NM_199296.3(ISM2):c.1352G>T (p.Arg451Leu)	ISM2 (R451L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2595933	NM_199296.3(ISM2):c.1351C>T (p.Arg451Cys)	ISM2 (R451C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286628	NM_199296.3(ISM2):c.1339G>A (p.Glu447Lys)	ISM2 (E447K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2597888	NM_199296.3(ISM2):c.1270C>T (p.Arg424Trp)	ISM2 (R424W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343908	NM_199296.3(ISM2):c.1237G>A (p.Asp413Asn)	ISM2 (D413N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3286630	NM_199296.3(ISM2):c.1175A>G (p.Asn392Ser)	ISM2 (M277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549803	NM_199296.3(ISM2):c.1172G>A (p.Arg391His)	ISM2 (A276T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219608	NM_199296.3(ISM2):c.1156T>C (p.Trp386Arg)	ISM2 (W386R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3111033	NM_199296.3(ISM2):c.1134C>T (p.Thr378=)	ISM2 (P263L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2364033	NM_199296.3(ISM2):c.1087C>T (p.Arg363Cys)	ISM2 (R363C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2204796	NM_199296.3(ISM2):c.1051C>T (p.Arg351Trp)	ISM2 (R351W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2605450	NM_199296.3(ISM2):c.1016G>A (p.Ser339Asn)	ISM2 (S339N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111044	NM_199296.3(ISM2):c.979G>A (p.Glu327Lys)	ISM2 (M211I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317354	NM_199296.3(ISM2):c.907A>G (p.Thr303Ala)	ISM2 (T303A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111043	NM_199296.3(ISM2):c.801G>C (p.Glu267Asp)	ISM2 (E267D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715668	NM_199296.3(ISM2):c.797G>A (p.Gly266Glu)	ISM2 (G266E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3111042	NM_199296.3(ISM2):c.790G>A (p.Glu264Lys)	ISM2 (E264K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460173	NM_199296.3(ISM2):c.784C>T (p.Pro262Ser)	ISM2 (P262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357417	NM_199296.3(ISM2):c.730G>A (p.Ala244Thr)	ISM2 (A244T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111041	NM_199296.3(ISM2):c.728C>T (p.Pro243Leu)	ISM2 (P243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606662	NM_199296.3(ISM2):c.700C>G (p.Pro234Ala)	ISM2 (P234A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111040	NM_199296.3(ISM2):c.698C>T (p.Pro233Leu)	ISM2 (P233L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466359	NM_199296.3(ISM2):c.651C>G (p.Asp217Glu)	ISM2 (D217E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346075	NM_199296.3(ISM2):c.613A>G (p.Asn205Asp)	ISM2 (N205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111039	NM_199296.3(ISM2):c.611C>T (p.Pro204Leu)	ISM2 (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540648	NM_199296.3(ISM2):c.594C>G (p.His198Gln)	ISM2 (H198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523609	NM_199296.3(ISM2):c.581C>T (p.Pro194Leu)	ISM2 (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410107	NM_199296.3(ISM2):c.551C>T (p.Thr184Ile)	ISM2 (T184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308555	NM_199296.3(ISM2):c.506C>A (p.Ala169Asp)	ISM2 (A169D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111037	NM_199296.3(ISM2):c.476A>C (p.His159Pro)	ISM2 (H159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281912	NM_199296.3(ISM2):c.452A>C (p.His151Pro)	ISM2 (H151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601356	NM_199296.3(ISM2):c.421G>A (p.Glu141Lys)	ISM2 (E141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286627	NM_199296.3(ISM2):c.410C>T (p.Pro137Leu)	ISM2 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777436	NM_199296.3(ISM2):c.397C>G (p.Pro133Ala)	ISM2 (P133A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2327845	NM_199296.3(ISM2):c.365C>T (p.Thr122Ile)	ISM2 (T122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280171	NM_199296.3(ISM2):c.341G>A (p.Gly114Glu)	ISM2 (G114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111036	NM_199296.3(ISM2):c.324G>C (p.Glu108Asp)	ISM2 (E108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210690	NM_199296.3(ISM2):c.317G>A (p.Arg106Gln)	ISM2 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274099	NM_199296.3(ISM2):c.316C>T (p.Arg106Trp)	ISM2 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111035	NM_199296.3(ISM2):c.302A>C (p.Glu101Ala)	ISM2 (E101A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286632	NM_199296.3(ISM2):c.211C>G (p.Leu71Val)	ISM2 (L71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365469	NM_199296.3(ISM2):c.149C>A (p.Ala50Asp)	ISM2 (A50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111032	NM_199296.3(ISM2):c.103C>T (p.Arg35Cys)	ISM2 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411544	NM_199296.3(ISM2):c.31C>G (p.Leu11Val)	ISM2 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286629	NM_199296.3(ISM2):c.16G>A (p.Asp6Asn)	ISM2 (D6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 2684737	GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	ADCK1, AHSA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2426709	NC_000014.8:g.(?_77893959)_(78082922_?)del	AHSA1, ISM2 +2 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527828	GRCh37/hg19 14q24.3(chr14:77862909-78274607)	ADCK1, AHSA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1446699	NC_000014.8:g.(?_77743719)_(78082922_?)del	AHSA1, GSTZ1 +7 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564107	GRCh37/hg19 14q24.3(chr14:77906706-78161647)x3	ALKBH1, SPTLC2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +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 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80