Related gene-specific medical variations for Gene (Select 4682) - ClinVar - NCBI

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

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301337	NM_002484.4(NUBP1):c.883G>C (p.Ala295Pro)	NUBP1, TVP23A (A295P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3301334	NM_002484.4(NUBP1):c.907A>T (p.Ile303Phe)	NUBP1, TVP23A (I275F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202700	NM_002484.4(NUBP1):c.772G>C (p.Asp258His)	NUBP1, TVP23A (D209H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202698	NM_002484.4(NUBP1):c.575T>C (p.Ile192Thr)	NUBP1, TVP23A (I143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202697	NM_002484.4(NUBP1):c.545C>T (p.Ser182Leu)	NUBP1, TVP23A (S171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646204	NM_002484.4(NUBP1):c.753C>T (p.Gly251=)	TVP23A, NUBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619993	NM_002484.4(NUBP1):c.781G>A (p.Val261Ile)	NUBP1, TVP23A (V261I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557276	NM_002484.4(NUBP1):c.733T>A (p.Phe245Ile)	NUBP1, TVP23A (F234I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539256	NM_002484.4(NUBP1):c.591C>G (p.Ile197Met)	NUBP1, TVP23A (I186M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530438	NM_002484.4(NUBP1):c.914A>G (p.Glu305Gly)	NUBP1, TVP23A (E277G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494585	NM_002484.4(NUBP1):c.691A>C (p.Ser231Arg)	NUBP1, TVP23A (S220R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406434	NM_002484.4(NUBP1):c.490G>A (p.Glu164Lys)	NUBP1, TVP23A (E153K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397099	NM_002484.4(NUBP1):c.754G>A (p.Ala252Thr)	NUBP1, TVP23A (A252T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348455	NM_002484.4(NUBP1):c.854T>G (p.Ile285Ser)	NUBP1, TVP23A (I274S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322477	NM_002484.4(NUBP1):c.854T>C (p.Ile285Thr)	NUBP1, TVP23A (I285T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2316359	NM_002484.4(NUBP1):c.809A>G (p.Asp270Gly)	NUBP1, TVP23A (D247G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308508	NM_002484.4(NUBP1):c.752G>A (p.Gly251Asp)	NUBP1, TVP23A (G202D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279267	NM_002484.4(NUBP1):c.690G>C (p.Met230Ile)	NUBP1, TVP23A (M207I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance