ClinVar for Gene (Select 145501) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3286629	NM_199296.3(ISM2):c.16G>A (p.Asp6Asn)	ISM2 (D6N)	Single nucleotide variant (missense variant)	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 3286627	NM_199296.3(ISM2):c.410C>T (p.Pro137Leu)	ISM2 (P137L)	Single nucleotide variant (missense variant)	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 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	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 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 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 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 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 3111039	NM_199296.3(ISM2):c.611C>T (p.Pro204Leu)	ISM2 (P204L)	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 3111036	NM_199296.3(ISM2):c.324G>C (p.Glu108Asp)	ISM2 (E108D)	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 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 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 3111032	NM_199296.3(ISM2):c.103C>T (p.Arg35Cys)	ISM2 (R35C)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 2601356	NM_199296.3(ISM2):c.421G>A (p.Glu141Lys)	ISM2 (E141K)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 2426709	NC_000014.8:g.(?_77893959)_(78082922_?)del	AHSA1, ISM2 +2 more	Deletion	not provided	GPathogenic
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 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 2410107	NM_199296.3(ISM2):c.551C>T (p.Thr184Ile)	ISM2 (T184I)	Single nucleotide variant (missense variant)	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 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 2365469	NM_199296.3(ISM2):c.149C>A (p.Ala50Asp)	ISM2 (A50D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2346075	NM_199296.3(ISM2):c.613A>G (p.Asn205Asp)	ISM2 (N205D)	Single nucleotide variant (missense variant)	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 2327845	NM_199296.3(ISM2):c.365C>T (p.Thr122Ile)	ISM2 (T122I)	Single nucleotide variant (missense variant)	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 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 2308555	NM_199296.3(ISM2):c.506C>A (p.Ala169Asp)	ISM2 (A169D)	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 2280171	NM_199296.3(ISM2):c.341G>A (p.Gly114Glu)	ISM2 (G114E)	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 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 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 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 2210690	NM_199296.3(ISM2):c.317G>A (p.Arg106Gln)	ISM2 (R106Q)	Single nucleotide variant (missense variant)	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 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 777436	NM_199296.3(ISM2):c.397C>G (p.Pro133Ala)	ISM2 (P133A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	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 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
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 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 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	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 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 80