ClinVar for MedGen (Select 907426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393307	NM_004370.6(COL12A1):c.9113dup (p.Gly3039fs)	COL12A1 (G1875fs +3 more)	Duplication (frameshift variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3391163	NM_004370.6(COL12A1):c.9026C>G (p.Ser3009Cys)	COL12A1 (S1845C +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3377520	NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)	COL12A1, LOC129996730 (E1379D +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3377403	NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)	COL12A1 (G1619D +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3256738	NM_004370.6(COL12A1):c.8415+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3246046	NC_000006.11:g.(?_75901397)_(75912508_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246045	NC_000006.11:g.(?_75827078)_(75912508_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246043	NC_000006.11:g.(?_75827078)_(76640888_?)dup	COL12A1, COX7A2 +5 more	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3246042	NC_000006.11:g.(?_75875203)_(75875515_?)dup	COL12A1	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
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 3066370	NM_004370.6(COL12A1):c.8219C>A (p.Thr2740Lys)	COL12A1 (T1576K +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3065992	NM_004370.6(COL12A1):c.4285G>A (p.Glu1429Lys)	COL12A1 (E1338K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2	GUncertain significance
Select item 3065301	NM_004370.6(COL12A1):c.5308_5311del (p.Thr1770fs)	COL12A1 (T1679fs +3 more)	Deletion (frameshift variant)	Bethlem myopathy 2	GLikely pathogenic
Select item 3064388	NM_004370.6(COL12A1):c.8685+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 2	GUncertain significance
Select item 2954552	NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2954551	NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)	COL12A1 (E1561K +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954550	NM_004370.6(COL12A1):c.8578-6T>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954478	NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)	COL12A1, LOC126859712 (A1281T +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954349	NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)	COL12A1 (Y1871H +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954251	NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)	COL12A1 (Y97C)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954242	NM_004370.6(COL12A1):c.984T>G (p.Val328=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954170	NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)	COL12A1 (G759A +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954055	NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)	COL12A1 (G1648S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2954039	NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)	COL12A1 (D2403E +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953996	NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)	COL12A1 (S1342G +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953877	NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)	COL12A1 (Q1781R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953837	NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)	COL12A1 (A461T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953810	NM_004370.6(COL12A1):c.394+3G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953781	NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)	COL12A1 (N1795S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953776	NM_004370.6(COL12A1):c.2438-20G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2953711	NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)	COL12A1 (N700K)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953635	NM_004370.6(COL12A1):c.5098-19T>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2953510	NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)	COL12A1 (H2198R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953361	NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)	COL12A1 (P2961Q +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953268	NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)	COL12A1 (T1659fs +2 more)	Duplication (frameshift variant)	Ullrich congenital muscular dystrophy 2 +1 more	GPathogenic
Select item 2953239	NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)	COL12A1 (P784L)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2953155	NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)	COL12A1, LOC126859712 (S1255G +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953076	NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)	COL12A1 (Y888H +1 more)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953066	NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)	COL12A1 (T510fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 2 +1 more	GPathogenic
Select item 2953010	NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)	COL12A1 (G1893R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2953008	NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952922	NM_004370.6(COL12A1):c.9181+4C>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952824	NM_004370.6(COL12A1):c.7558+5G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952784	NM_004370.6(COL12A1):c.5794+17A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952761	NM_004370.6(COL12A1):c.4417+2_4417+3del	COL12A1, LOC129996730	Microsatellite (splice donor variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 2952738	NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)	COL12A1 (T2635R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952580	NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)	COL12A1 (G2593D +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952511	NM_004370.6(COL12A1):c.3444-17A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952499	NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)	COL12A1 (E1887D +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952470	NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952433	NM_004370.6(COL12A1):c.946G>A (p.Val316Met)	COL12A1 (V316M)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952332	NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)	COL12A1 (R1599G +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952253	NM_004370.6(COL12A1):c.4560+14G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952241	NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)	COL12A1 (P1330T +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952159	NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2952058	NM_004370.6(COL12A1):c.8685+3A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2952036	NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)	COL12A1 (V518A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2951987	NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)	COL12A1 (A103V +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951927	NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)	COL12A1 (F1458S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951861	NM_004370.6(COL12A1):c.7210+3dup	COL12A1, LOC126859712	Duplication (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951842	NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)	COL12A1 (G2740R +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951712	NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)	COL12A1 (V659G)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951518	NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)	COL12A1 (P712S)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951514	NM_004370.6(COL12A1):c.2710+8C>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2951508	NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951276	NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)	COL12A1 (Q875R +1 more)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951252	NM_004370.6(COL12A1):c.1525del (p.Thr509fs)	COL12A1 (T509fs)	Deletion (frameshift variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951249	NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)	COL12A1 (L895V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951222	NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)	COL12A1 (Y1787C +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2951219	NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)	COL12A1 (A2664S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951190	NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)	COL12A1 (Y646N)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2951178	NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)	COL12A1 (G1787V +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2951038	NM_004370.6(COL12A1):c.3565+1G>A	COL12A1	Single nucleotide variant (intron variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950973	NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)	COL12A1 (D1443N +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950912	NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)	COL12A1 (E593D)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950911	NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)	COL12A1 (V1349A +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950888	NM_004370.6(COL12A1):c.4958-16C>T	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950859	NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)	COL12A1 (D819E)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950744	NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)	COL12A1 (A1860V +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950743	NM_004370.6(COL12A1):c.6872-15A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950741	NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950731	NM_004370.6(COL12A1):c.7841-4A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950678	NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)	COL12A1 (F497L)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950631	NM_004370.6(COL12A1):c.8752+9del	COL12A1	Deletion (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950615	NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)	COL12A1 (G1333E +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950607	NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)	COL12A1 (I210T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950523	NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)	COL12A1 (P2711T +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950471	NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)	COL12A1 (E1549Q +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950466	NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)	COL12A1 (E464G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2950440	NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)	COL12A1 (S798L)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950414	NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)	COL12A1 (I1891T +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950231	NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)	COL12A1 (R749*)	Single nucleotide variant (nonsense +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2950228	NM_004370.6(COL12A1):c.46C>T (p.Leu16=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950111	NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2950097	NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)	COL12A1 (V1106A +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2949868	NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)	COL12A1	Single nucleotide variant (synonymous variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2949812	NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)	COL12A1 (K630N)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2949806	NM_004370.6(COL12A1):c.824-10dup	COL12A1	Duplication (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign
Select item 2949783	NM_004370.6(COL12A1):c.3566-15T>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2949656	NM_004370.6(COL12A1):c.73+1G>A	COL12A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic

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