"Revvity Omics, Revvity"[submitter] AND "COL12A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 566830	NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)	COL12A1 (G3063S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 655423	NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)	COL12A1 (P3037L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 1521594	NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)	COL12A1 (G1863fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1540715	NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1492488	NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)	COL12A1 (P1858S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1318525	NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)	COL12A1 (P1812H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 569459	NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)	COL12A1 (P2944L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2440221	NM_004370.6(COL12A1):c.8707A>T (p.Met2903Leu)	COL12A1 (M1739L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358598	NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)	COL12A1 (P1706L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1054481	NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)	COL12A1 (P1691S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 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)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 574912	NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)	COL12A1 (P2832R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475902	NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)	COL12A1 (T2825N +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1060489	NM_004370.6(COL12A1):c.8470-3C>A	COL12A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 542511	NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)	COL12A1 (R2807H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2424096	NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)	COL12A1 (P1632L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 861265	NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)	COL12A1 (P1620L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1968366	NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)	COL12A1 (R1615P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579591	NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)	COL12A1 (R2779H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1485620	NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)	COL12A1 (I1605V +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1020541	NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)	COL12A1 (P1588T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1003683	NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)	COL12A1 (D1564V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2688816	NM_004370.6(COL12A1):c.8170C>T (p.Pro2724Ser)	COL12A1 (P1560S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983453	NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)	COL12A1 (I1559M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2440267	NM_004370.6(COL12A1):c.8114G>A (p.Ser2705Asn)	COL12A1 (S1541N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039813	NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)	COL12A1 (A1536T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2163487	NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)	COL12A1 (H1488Y +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2440266	NM_004370.6(COL12A1):c.7930T>C (p.Phe2644Leu)	COL12A1 (F1480L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1042090	NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)	COL12A1 (V1476I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1051994	NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)	COL12A1 (E1475K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 423385	NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)	COL12A1 (N2623K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2440234	NM_004370.6(COL12A1):c.7868A>G (p.Asn2623Ser)	COL12A1 (N1459S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1318861	NM_004370.6(COL12A1):c.7844C>A (p.Ser2615Tyr)	COL12A1 (S1451Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964906	NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)	COL12A1 (K1441Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2439227	NM_004370.6(COL12A1):c.7803_7806del (p.Asp2601fs)	COL12A1 (D1437fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 958263	NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)	COL12A1 (R1438G +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2440235	NM_004370.6(COL12A1):c.7736T>C (p.Ile2579Thr)	COL12A1 (I1415T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327784	NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)	COL12A1 (P1410R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 835145	NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)	COL12A1 (A1402V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2078211	NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)	COL12A1 (T2565A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 542500	NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)	COL12A1 (P2564S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1475050	NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)	COL12A1 (R2554W +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2440203	NM_004370.6(COL12A1):c.7616G>A (p.Gly2539Glu)	COL12A1 (G1375E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440261	NM_004370.6(COL12A1):c.7596G>T (p.Lys2532Asn)	COL12A1 (K1368N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440214	NM_004370.6(COL12A1):c.7582A>G (p.Asn2528Asp)	COL12A1 (N1364D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440227	NM_004370.6(COL12A1):c.7531A>G (p.Ile2511Val)	COL12A1 (I1347V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982705	NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)	COL12A1 (I1333T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440223	NM_004370.6(COL12A1):c.7463C>G (p.Ser2488Cys)	COL12A1 (S1324C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840489	NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)	COL12A1 (V2480M +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 960454	NM_004370.5(COL12A1):c.7356del	COL12A1	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1051021	NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)	COL12A1, LOC126859712 (A1280V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1024140	NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)	COL12A1, LOC126859712 (V1267A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 664829	NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)	COL12A1, LOC126859712 (T2408R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2440260	NM_004370.6(COL12A1):c.7108G>A (p.Asp2370Asn)	COL12A1, LOC126859712 (D1206N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204295	NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	COL12A1 (I2334T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 653954	NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)	COL12A1 (R1150W +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 705740	NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)	COL12A1 (I1146V +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 542491	NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)	COL12A1 (P2308A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1522115	NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)	COL12A1 (P1113A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 542522	NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)	COL12A1 (R2251H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1060842	NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)	COL12A1 (R1087C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1160455	NM_004370.6(COL12A1):c.6608-4G>A	COL12A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2688819	NM_004370.6(COL12A1):c.6607+3G>A	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 940666	NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)	COL12A1 (L1028F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1044820	NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)	COL12A1 (N1019K +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 955379	NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)	COL12A1 (D2181N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 475888	NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)	COL12A1 (Y2150H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GConflicting classifications of pathogenicity
Select item 1040854	NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)	COL12A1 (V979L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1423560	NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)	COL12A1 (Y2129C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 851276	NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)	COL12A1 (G911D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2440222	NM_004370.6(COL12A1):c.6176A>G (p.Tyr2059Cys)	COL12A1 (Y2059C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440205	NM_004370.6(COL12A1):c.6172A>G (p.Ile2058Val)	COL12A1 (I2058V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440243	NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)	COL12A1 (V2043A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 643528	NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)	COL12A1 (R2025H +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 566034	NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)	COL12A1 (P2024S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1003686	NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)	COL12A1 (L2004P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 971604	NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)	COL12A1 (V838M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1414783	NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)	COL12A1 (T1986M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1316755	NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)	COL12A1 (V1966I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2440264	NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)	COL12A1 (R1965H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 573385	NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)	COL12A1 (R1965S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 204297	NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)	COL12A1 (R1965C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +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 2440217	NM_004370.6(COL12A1):c.5816A>G (p.Asn1939Ser)	COL12A1 (N1939S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 949332	NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)	COL12A1 (A1937T +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 846212	NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)	COL12A1 (R1924C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1320401	NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)	COL12A1 (D1921G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1906540	NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)	COL12A1 (V1913I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2440258	NM_004370.6(COL12A1):c.5702G>A (p.Arg1901Lys)	COL12A1 (R1901K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218594	NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)	COL12A1 (G1893R +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 652917	NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)	COL12A1 (A1882V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2688817	NM_004370.6(COL12A1):c.5638C>T (p.Pro1880Ser)	COL12A1 (P1789S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 647187	NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)	COL12A1 (A1879T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1037341	NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)	COL12A1 (F713V +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 581581	NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)	COL12A1 (R1872H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 707789	NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)	COL12A1 (V1862A +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 1348664	NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)	COL12A1 (T693I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance

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