ClinVar for Gene (Select 51280) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281970	NM_016548.4(GOLM1):c.22C>T (p.Arg8Cys)	GOLM1, LOC126860666 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281969	NM_016548.4(GOLM1):c.4A>T (p.Met2Leu)	GOLM1, LOC126860666 (M2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281968	NM_016548.4(GOLM1):c.1144G>T (p.Asp382Tyr)	GOLM1 (D382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281967	NM_016548.4(GOLM1):c.370T>G (p.Leu124Val)	GOLM1 (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281966	NM_016548.4(GOLM1):c.583G>A (p.Asp195Asn)	GOLM1 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100953	NM_016548.4(GOLM1):c.991G>A (p.Glu331Lys)	GOLM1 (E331K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100952	NM_016548.4(GOLM1):c.671A>T (p.Lys224Met)	GOLM1 (K224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100951	NM_016548.4(GOLM1):c.425A>T (p.Gln142Leu)	GOLM1 (Q142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100949	NM_016548.4(GOLM1):c.172G>A (p.Ala58Thr)	GOLM1 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100948	NM_016548.4(GOLM1):c.113G>A (p.Arg38Gln)	GOLM1, LOC126860666 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659288	NM_016548.4(GOLM1):c.399G>C (p.Arg133Ser)	GOLM1 (R133S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659287	NM_016548.4(GOLM1):c.825C>T (p.Gly275=)	GOLM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622918	NM_016548.4(GOLM1):c.104C>T (p.Ala35Val)	GOLM1, LOC126860666 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609919	NM_016548.4(GOLM1):c.204C>G (p.Asn68Lys)	GOLM1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597635	NM_016548.4(GOLM1):c.1171C>T (p.Leu391Phe)	GOLM1 (L391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592821	NM_016548.4(GOLM1):c.304G>A (p.Glu102Lys)	GOLM1 (E102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554065	NM_016548.4(GOLM1):c.751G>C (p.Glu251Gln)	GOLM1 (E251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538608	NM_016548.4(GOLM1):c.581A>G (p.Asn194Ser)	GOLM1 (N194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527016	NM_016548.4(GOLM1):c.870C>G (p.Phe290Leu)	GOLM1 (F290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510487	NM_016548.4(GOLM1):c.580A>G (p.Asn194Asp)	GOLM1 (N194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508964	NM_016548.4(GOLM1):c.266A>G (p.Asn89Ser)	GOLM1 (N89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392306	NM_016548.4(GOLM1):c.1052A>G (p.Tyr351Cys)	GOLM1 (Y351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390178	NM_016548.4(GOLM1):c.679G>A (p.Val227Met)	GOLM1 (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300105	NM_016548.4(GOLM1):c.827G>A (p.Arg276Gln)	GOLM1 (R276Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276036	NM_016548.4(GOLM1):c.1016G>A (p.Gly339Glu)	GOLM1 (G339E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258620	NM_016548.4(GOLM1):c.257C>T (p.Ser86Phe)	GOLM1 (S86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254822	NM_016548.4(GOLM1):c.187G>A (p.Val63Met)	GOLM1 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232351	NM_016548.4(GOLM1):c.130A>G (p.Thr44Ala)	GOLM1 (T44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213487	NM_016548.4(GOLM1):c.655G>C (p.Glu219Gln)	GOLM1 (E219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527533	GRCh37/hg19 9q21.33(chr9:87881345-88749247)	AGTPBP1, GOLM1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 815265	GRCh37/hg19 9q21.33(chr9:88622823-88951838)x3	C9orf153, ISCA1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 791300	NM_016548.4(GOLM1):c.366C>T (p.Asp122=)	GOLM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784145	NM_016548.4(GOLM1):c.467+3G>A	GOLM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727548	NM_016548.4(GOLM1):c.105G>A (p.Ala35=)	GOLM1, LOC126860666	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716391	NM_016548.4(GOLM1):c.870C>T (p.Phe290=)	GOLM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713718	NM_016548.4(GOLM1):c.978C>T (p.Pro326=)	GOLM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150247	GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	AGTPBP1, C9orf153 +31 more	Copy number loss	See cases	GUncertain significance
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148528	GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1	AUH, C9orf153 +214 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64