C4225313[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585233	NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)	COL12A1 (G1464D +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 1339056	NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)	COL12A1, LOC126859712 (E1211V +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 648212	NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)	COL12A1 (K1123E +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2627531	NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)	COL12A1 (Y107C +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 1339245	NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)	COL12A1 (L1262S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 3234922	NM_004370.6(COL12A1):c.2726A>C (p.Gln909Pro)	COL12A1 (Q818P +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2	GUncertain significance
Select item 2440237	NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)	COL12A1 (T865R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2585433	NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)	COL12A1 (D250N)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2	GUncertain significance