6845[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 more	Copy number loss	See cases	GPathogenic
Select item 3122785	NM_145160.3(MAP2K5):c.20G>T (p.Gly7Val)	MAP2K5 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733231	NM_145160.3(MAP2K5):c.184+7C>T	MAP2K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3122784	NM_145160.3(MAP2K5):c.198T>G (p.Asp66Glu)	MAP2K5 (D30E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122786	NM_145160.3(MAP2K5):c.295A>G (p.Ile99Val)	MAP2K5 (I63V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292975	NM_145160.3(MAP2K5):c.340G>A (p.Glu114Lys)	MAP2K5 (E78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370341	NM_145160.3(MAP2K5):c.373C>T (p.Arg125Trp)	MAP2K5 (R89W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510964	NM_145160.3(MAP2K5):c.469G>A (p.Ala157Thr)	MAP2K5 (A121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292977	NM_145160.3(MAP2K5):c.542A>G (p.Tyr181Cys)	MAP2K5 (Y181C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776918	NM_145160.3(MAP2K5):c.586-8A>G	MAP2K5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508055	NM_145160.3(MAP2K5):c.670A>G (p.Ile224Val)	MAP2K5 (I188V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122787	NM_145160.3(MAP2K5):c.698T>C (p.Val233Ala)	MAP2K5 (V233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306794	NM_145160.3(MAP2K5):c.755A>G (p.Tyr252Cys)	MAP2K5 (Y252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325653	NM_145160.3(MAP2K5):c.797C>T (p.Ala266Val)	MAP2K5 (A230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708695	NM_145160.3(MAP2K5):c.849C>T (p.Asp283=)	MAP2K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535958	NM_145160.3(MAP2K5):c.1037T>C (p.Phe346Ser)	MAP2K5 (F310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027374	NM_145160.3(MAP2K5):c.1074+1G>A	MAP2K5	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 3292978	NM_145160.3(MAP2K5):c.1090G>C (p.Gly364Arg)	MAP2K5 (G364R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122783	NM_145160.3(MAP2K5):c.1306C>T (p.Arg436Trp)	MAP2K5 (R400W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292976	NM_145160.3(MAP2K5):c.1307G>T (p.Arg436Leu)	MAP2K5 (R426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292974	NM_145160.3(MAP2K5):c.1307G>A (p.Arg436Gln)	MAP2K5 (R436Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328258	NM_145160.3(MAP2K5):c.1331A>G (p.Gln444Arg)	MAP2K5 (Q434R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685520	GRCh37/hg19 15q23(chr15:67881929-68241646)x1	SKOR1, MAP2K5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	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 815730	GRCh37/hg19 15q22.31-23(chr15:67172682-68053940)x1	AAGAB, C15orf61 +3 more	Copy number loss	not provided	GPathogenic
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 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 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 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 37