Related gene-specific medical variations for Gene (Select 4924) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202721	NM_006184.6(NUCB1):c.749T>C (p.Ile250Thr)	NUCB1, NUCB1-AS1 (I250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202720	NM_006184.6(NUCB1):c.563G>A (p.Arg188Gln)	NUCB1, NUCB1-AS1 (R188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202719	NM_006184.6(NUCB1):c.497C>T (p.Ala166Val)	NUCB1, NUCB1-AS1 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599336	NM_006184.6(NUCB1):c.689A>C (p.Glu230Ala)	NUCB1, NUCB1-AS1 (E230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395386	NM_006184.6(NUCB1):c.632G>A (p.Arg211His)	NUCB1, NUCB1-AS1 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378733	NM_006184.6(NUCB1):c.413T>C (p.Phe138Ser)	NUCB1, NUCB1-AS1 (F138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361980	NM_006184.6(NUCB1):c.566G>A (p.Arg189His)	NUCB1, NUCB1-AS1 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300331	NM_006184.6(NUCB1):c.562C>T (p.Arg188Trp)	NUCB1, NUCB1-AS1 (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226780	NM_006184.6(NUCB1):c.760A>G (p.Ile254Val)	NUCB1, NUCB1-AS1 (I254V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance