ClinVar for MedGen (Select 893688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248176	NC_000021.8:g.(?_47532319)_(47533133_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248175	NC_000021.8:g.(?_47545204)_(47546372_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248174	NC_000021.8:g.(?_47532747)_(47533970_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248173	NC_000021.8:g.(?_47552332)_(47557196_?)del	COL6A2, FTCD	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248172	NC_000021.8:g.(?_47552285)_(47554633_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248171	NC_000021.8:g.(?_47531391)_(47537387_?)dup	COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248169	NC_000021.8:g.(?_47551848)_(47575437_?)dup	COL6A2, FTCD	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248168	NC_000021.8:g.(?_47543718)_(47545225_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248167	NC_000021.8:g.(?_47531391)_(47541057_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248166	NC_000021.8:g.(?_47405667)_(47407547_?)del	COL6A1	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248165	NC_000021.8:g.(?_47407504)_(47421320_?)dup	COL6A1	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248164	NC_000021.8:g.(?_47422421)_(47423927_?)del	COL6A1	Deletion	Bethlem myopathy 1A	GUncertain significance
Select item 3247419	NC_000002.11:g.(?_238267977)_(238268801_?)del	COL6A3	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3247418	NC_000002.11:g.(?_238271294)_(238275426_?)del	COL6A3	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3247417	NC_000002.11:g.(?_238274642)_(238275889_?)del	COL6A3	Deletion	Bethlem myopathy 1A	GUncertain significance
Select item 3247416	NC_000002.11:g.(?_238233417)_(238305460_?)dup	COL6A3	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	MLPH, MTERF4 +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3236461	NM_001849.4(COL6A2):c.1787C>T (p.Thr596Ile)	COL6A2 (T596I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 3236460	NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)	COL6A2 (E959fs)	Insertion (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3236459	NM_001849.4(COL6A2):c.2495dup (p.Asp833fs)	COL6A2 (D833fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3236458	NM_001849.4(COL6A2):c.949C>T (p.Arg317Cys)	COL6A2 (R317C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3066098	NM_001848.3(COL6A1):c.1784del (p.Glu595fs)	COL6A1 (E595fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3023515	NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)	COL6A3 (D1354H +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3023354	NM_001849.4(COL6A2):c.312G>A (p.Gln104=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3023160	NM_001848.3(COL6A1):c.1461+10A>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022870	NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022702	NM_001849.4(COL6A2):c.1573-20G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022345	NM_004369.4(COL6A3):c.7126-12T>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022071	NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)	COL6A2 (L772fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GPathogenic
Select item 3021368	NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)	COL6A1 (F187V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3021023	NM_001848.3(COL6A1):c.1777-8C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3021005	NM_001848.3(COL6A1):c.589-8G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3020756	NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)	COL6A2 (G167C)	Single nucleotide variant (missense variant)	COL6A2-related disorder +1 more	GUncertain significance
Select item 3020560	NM_004369.4(COL6A3):c.92-19C>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3020366	NM_004369.4(COL6A3):c.6064-7T>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3019946	NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3019084	NM_001849.4(COL6A2):c.1771-9G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3018175	NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)	COL6A3 (I188T)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 3017538	NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3017369	NM_001849.4(COL6A2):c.999+6G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3016967	NM_004369.4(COL6A3):c.687G>A (p.Thr229=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3016833	NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)	COL6A3 (T2942I +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3015878	NM_004369.4(COL6A3):c.6211-17T>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3015187	NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)	COL6A3 (I2719T +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3015162	NM_004369.4(COL6A3):c.1897+16C>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3014975	NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)	COL6A3, LOC126806573 (M2975L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 3014134	NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013516	NM_004369.4(COL6A3):c.6931-19A>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013439	NM_001848.3(COL6A1):c.2250+11C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013365	NM_001848.3(COL6A1):c.588+16C>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3013315	NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)	COL6A3 (K1254* +4 more)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 3012638	NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3012518	NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)	COL6A2 (Q909P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3011950	NM_004369.4(COL6A3):c.6966+11C>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3011821	NM_004369.4(COL6A3):c.1312+12C>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3010105	NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)	COL6A3 (G1392E +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3009951	NM_001849.4(COL6A2):c.1459-2_1459-1del	COL6A2	Deletion (splice acceptor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3009926	NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)	COL6A2 (T142R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3008222	NM_004369.4(COL6A3):c.3679+13C>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3008010	NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)	COL6A1 (E519R)	Indel (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3007749	NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3007094	NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)	COL6A3 (L1420S +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3006994	NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)	COL6A3 (S238T +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3006560	NM_004369.4(COL6A3):c.6627+15G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3005148	NM_001849.4(COL6A2):c.1817-18A>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3004794	NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3004303	NM_004369.4(COL6A3):c.3679+14T>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3004286	NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)	COL6A3 (S1291N +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3003980	NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3003492	NM_001849.4(COL6A2):c.1522-3C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3002882	NM_001848.3(COL6A1):c.57G>T (p.Ala19=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3002447	NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)	COL6A3 (K585N +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3001615	NM_001849.4(COL6A2):c.900+5G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3000492	NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)	COL6A3 (L1487P +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2999647	NM_004369.4(COL6A3):c.8966-19G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2999531	NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2999009	NM_004369.4(COL6A3):c.3071-6T>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2998848	NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)	COL6A3 (R597T +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2998720	NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)	COL6A3 (R1096G +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2998347	NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2994962	NM_004369.4(COL6A3):c.3071-1G>A	COL6A3	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 2994888	NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2994509	NM_001848.3(COL6A1):c.1776+7G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2993644	NM_004369.4(COL6A3):c.7125+12G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2993347	NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)	COL6A3 (K1532I +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2991019	NM_001848.3(COL6A1):c.429-15C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2991017	NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2990995	NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)	COL6A3 (N251D +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 2990991	NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)	COL6A3 (K99E)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 2990697	NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2989259	NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2988034	NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 2987837	NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)	COL6A2 (F892Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2987593	NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)	COL6A3 (S1216N +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2987506	NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2987500	NM_004369.4(COL6A3):c.6538-12T>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2986317	NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)	COL6A1 (T703M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 2985988	NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)	COL6A3 (P626L +2 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 2985526	NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)	COL6A3 (G2174D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2983960	NM_001849.4(COL6A2):c.1816+6G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance

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