Related gene-specific medical variations for Gene (Select 4217) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122982	NM_005923.4(MAP3K5):c.269G>A (p.Arg90Gln)	LOC129997240, MAP3K5 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122979	NM_005923.4(MAP3K5):c.1972G>A (p.Gly658Arg)	MAP3K5, MAP3K5-AS1 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656932	NC_000006.12:g.136792731T>A	LOC129997242, MAP3K5	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 2490477	NM_005923.4(MAP3K5):c.19G>C (p.Glu7Gln)	LOC129997241, MAP3K5 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398223	NM_005923.4(MAP3K5):c.1814G>T (p.Ser605Ile)	MAP3K5, MAP3K5-AS1 (S605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280679	NM_005923.4(MAP3K5):c.1979G>A (p.Ser660Asn)	MAP3K5, MAP3K5-AS1 (S660N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219182	NM_005923.4(MAP3K5):c.260G>A (p.Gly87Asp)	LOC129997240, MAP3K5 (G87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785189	NM_005923.4(MAP3K5):c.24C>T (p.Gly8=)	LOC129997241, MAP3K5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775243	NM_005923.4(MAP3K5):c.1838+9C>T	MAP3K5, MAP3K5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687638	GRCh37/hg19 6q23.3(chr6:137057372-137134336)x3	MAP3K5	Copy number gain	not provided	GUncertain significance