"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "COL - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 949905	NM_004370.6(COL12A1):c.8319+1G>C	COL12A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 657761	NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)	COL12A1 (E1465K +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 425388	NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)	COL12A1 (T2618M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 971080	NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)	COL12A1 (T1079I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 660068	NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)	COL12A1 (G2050W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1015304	NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)	COL12A1 (V1952G +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1041953	NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)	COL12A1 (Y710H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 837588	NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)	COL12A1 (T672M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 542478	NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)	COL12A1 (R1834Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 663815	NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)	COL12A1 (R1804Q +1 more)	Single nucleotide variant (missense variant)	COL12A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 578147	NM_004370.6(COL12A1):c.5230+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely pathogenic
Select item 542494	NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)	COL12A1 (M1582L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 573923	NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)	COL12A1 (E491Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1005304	NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	COL12A1 (R486W)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 450624	NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)	COL12A1 (E89A)	Single nucleotide variant (missense variant +1 more)	COL12A1-related disorder +3 more	GUncertain significance