"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL12A1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 639126	NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 569765	NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)	COL12A1 (M2850V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 583345	NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)	COL12A1 (P2834R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 842963	NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)	COL12A1 (P1442S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 705562	NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely benign
Select item 542491	NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)	COL12A1 (P2308A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 580486	NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)	COL12A1 (P2307S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 475886	NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign/Likely benign
Select item 542523	NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely benign
Select item 566034	NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)	COL12A1 (P2024S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1179941	NM_004370.6(COL12A1):c.6068-14T>A	COL12A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1316755	NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)	COL12A1 (V1966I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475878	NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)	COL12A1 (P1947T +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 259338	NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign/Likely 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 475876	NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)	COL12A1 (R1804W +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 475874	NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)	COL12A1 (T1798M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 705878	NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1355853	NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)	COL12A1 (S1734R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 542494	NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)	COL12A1 (M1582L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1496589	NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)	COL12A1 (M366T +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1513072	NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)	COL12A1 (P1474S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 853507	NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)	COL12A1 (R1414* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 475865	NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +2 more	GBenign/Likely benign
Select item 259330	NM_004370.6(COL12A1):c.4001-10G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +3 more	GBenign/Likely benign
Select item 475863	NM_004370.6(COL12A1):c.4000+5G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely benign
Select item 475861	NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)	COL12A1 (L1323V +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 450114	NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)	COL12A1 (R1286H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 642600	NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)	COL12A1 (D94E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1406014	NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)	COL12A1 (R1031S)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2 +1 more	GUncertain significance
Select item 1318976	NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)	COL12A1 (P986R)	Single nucleotide variant (intron variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 580432	NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)	COL12A1 (R905H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1006180	NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)	COL12A1 (R905C)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 542481	NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)	COL12A1 (H595N)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 569953	NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)	COL12A1 (A592V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 566613	NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)	COL12A1 (I308F)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 475885	NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)	COL12A1 (K209T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GBenign/Likely benign
Select item 475884	NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)	COL12A1 (L203I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 703241	NM_004370.6(COL12A1):c.384C>T (p.Thr128=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely benign
Select item 1095946	NM_004370.6(COL12A1):c.363G>A (p.Val121=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	COL12A1-related disorder +2 more	GLikely benign
Select item 1427124	NM_004370.6(COL12A1):c.335-1G>C	COL12A1	Single nucleotide variant (splice acceptor variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 658502	NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)	COL12A1 (T40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1653347	NM_004370.6(COL12A1):c.74-19T>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign

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Items: 43