GOLM2[gene] - ClinVar

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

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2476694	NM_138423.4(GOLM2):c.191A>G (p.Glu64Gly)	GOLM2 (E64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459288	NM_138423.4(GOLM2):c.200A>G (p.Asn67Ser)	GOLM2 (N67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100959	NM_138423.4(GOLM2):c.226A>G (p.Thr76Ala)	GOLM2 (T76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621162	NM_138423.4(GOLM2):c.232A>C (p.Lys78Gln)	GOLM2 (K78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544718	NM_138423.4(GOLM2):c.265G>T (p.Gly89Cys)	GOLM2 (G89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555655	NM_138423.4(GOLM2):c.297G>C (p.Glu99Asp)	GOLM2 (E99D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100960	NM_138423.4(GOLM2):c.350C>T (p.Ser117Leu)	GOLM2 (S117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596385	NM_138423.4(GOLM2):c.412C>T (p.Leu138Phe)	GOLM2 (L138F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100961	NM_138423.4(GOLM2):c.430C>T (p.Leu144Phe)	GOLM2 (L144F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100962	NM_138423.4(GOLM2):c.450C>A (p.Asn150Lys)	GOLM2 (N150K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100963	NM_138423.4(GOLM2):c.470G>T (p.Arg157Met)	GOLM2 (R157M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 3100964	NM_138423.4(GOLM2):c.526C>A (p.His176Asn)	GOLM2 (H176N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100965	NM_138423.4(GOLM2):c.538A>T (p.Ile180Phe)	GOLM2 (I180F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100966	NM_138423.4(GOLM2):c.590A>G (p.Lys197Arg)	GOLM2 (K197R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100967	NM_138423.4(GOLM2):c.691C>A (p.Pro231Thr)	GOLM2 (P231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788585	NM_138423.4(GOLM2):c.713A>C (p.His238Pro)	GOLM2 (H238P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3100968	NM_138423.4(GOLM2):c.760A>G (p.Ile254Val)	GOLM2 (I254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100969	NM_138423.4(GOLM2):c.785T>G (p.Val262Gly)	GOLM2 (V262G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100970	NM_138423.4(GOLM2):c.794T>A (p.Leu265His)	GOLM2 (L265H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471371	NM_138423.4(GOLM2):c.835C>T (p.His279Tyr)	GOLM2 (H279Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3100971	NM_138423.4(GOLM2):c.862C>G (p.Leu288Val)	GOLM2 (L288V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456257	NM_138423.4(GOLM2):c.950C>T (p.Pro317Leu)	GOLM2 (P317L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465682	NM_138423.4(GOLM2):c.1038G>T (p.Lys346Asn)	GOLM2 (K346N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3100954	NM_138423.4(GOLM2):c.1039G>A (p.Asp347Asn)	GOLM2 (D347N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494842	NM_138423.4(GOLM2):c.1064T>C (p.Leu355Ser)	GOLM2 (L355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544268	NM_138423.4(GOLM2):c.1082T>C (p.Phe361Ser)	GOLM2 (F361S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100955	NM_138423.4(GOLM2):c.1103T>C (p.Val368Ala)	GOLM2 (V368A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100956	NM_138423.4(GOLM2):c.1109C>T (p.Pro370Leu)	GOLM2 (P370L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100957	NM_138423.4(GOLM2):c.1219G>C (p.Gly407Arg)	GOLM2 (G407R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100958	NM_138423.4(GOLM2):c.1253G>A (p.Arg418Gln)	GOLM2 (R362Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063371	GRCh37/hg19 15q15.3-21.1(chr15:44663847-44917029)x3	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526449	GRCh37/hg19 15q15.3-21.1(chr15:44346958-44853978)	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

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: 47