Related gene-specific medical variations for Gene (Select 118597844) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044197	NM_033550.4(TP53RK):c.81G>A (p.Glu27=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	TP53RK-related disorder	GLikely benign
Select item 3009498	NM_033550.4(TP53RK):c.30C>T (p.Ala10=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892704	NM_033550.4(TP53RK):c.42G>A (p.Glu14=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2882280	NM_033550.4(TP53RK):c.45C>T (p.Pro15=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059862	NM_033550.4(TP53RK):c.33T>G (p.Asp11Glu)	LOC130065998, TP53RK +1 more (D11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994807	NM_033550.4(TP53RK):c.49C>T (p.Pro17Ser)	LOC130065998, TP53RK +1 more (P17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953062	NM_033550.4(TP53RK):c.19A>G (p.Thr7Ala)	LOC130065998, TP53RK +1 more (T7A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922102	NM_033550.4(TP53RK):c.11C>T (p.Ala4Val)	LOC130065998, TP53RK +1 more (A4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905215	NM_033550.4(TP53RK):c.36C>T (p.Gly12=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900794	NM_033550.4(TP53RK):c.76C>A (p.Arg26=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1230926	NM_033550.4(TP53RK):c.12C>T (p.Ala4=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229947	NM_033550.4(TP53RK):c.-16G>C	LOC130065998, TP53RK +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 813579	NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs)	LOC130065998, TP53RK +1 more (A6fs)	Microsatellite (frameshift variant)	Galloway-Mowat syndrome 4	GUncertain significance
Select item 753352	NM_033550.4(TP53RK):c.84G>A (p.Arg28=)	LOC130065998, TP53RK +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717598	NM_033550.4(TP53RK):c.23C>T (p.Thr8Met)	LOC130065998, TP53RK +1 more (T8M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign