Related gene-specific medical variations for Gene (Select 9448) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361709	NM_001395002.1(MAP4K4):c.3764C>G (p.Pro1255Arg)	MAP4K4 (P1020R +47 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359351	NM_001395002.1(MAP4K4):c.347T>C (p.Leu116Pro)	MAP4K4 (L107P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359297	NM_001395002.1(MAP4K4):c.1867-1G>A	MAP4K4	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2618975	NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr)	LOC122817718, MAP4K4 (A737T +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591735	NM_001395002.1(MAP4K4):c.2473G>T (p.Ala825Ser)	LOC122817718, MAP4K4 (A660S +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523443	NM_001395002.1(MAP4K4):c.2487G>T (p.Glu829Asp)	LOC122817718, MAP4K4 (E657D +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327685	NM_001395002.1(MAP4K4):c.2561C>T (p.Thr854Met)	LOC122817718, MAP4K4 (T495M +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254439	NM_001395002.1(MAP4K4):c.2528C>T (p.Thr843Met)	LOC122817718, MAP4K4 (T515M +41 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1340839	GRCh37/hg19 2q11.2(chr2:102328409-102561184)x3	MAP4K4	Copy number gain	not provided	GUncertain significance
Select item 1236114	NM_001395002.1(MAP4K4):c.2639+66C>T	LOC122817718, MAP4K4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 814288	GRCh37/hg19 2q11.2(chr2:102167910-102372878)x3	MAP4K4	Copy number gain	not provided	GUncertain significance