ClinVar for MedGen (Select 893688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3781341	NM_001848.3(COL6A1):c.2756C>T (p.Ala919Val)	COL6A1 (A919V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3775836	NM_004409.5(DMPK):c.281CAG[81] (p.Thr93_Gly94insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	DMPK	Microsatellite (inframe_insertion +1 more)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3775811	NM_001848.3(COL6A1):c.98-1G>C	COL6A1	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 3775507	NM_004369.4(COL6A3):c.6995G>T (p.Gly2332Val)	COL6A3 (G1725V +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3730533	NM_004369.4(COL6A3):c.569G>T (p.Ser190Ile)	COL6A3 (S190I)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3730523	NM_004369.4(COL6A3):c.6138_6139delinsGT (p.Ile2046_Gly2047delinsMetCys)	COL6A3	Indel (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3730436	NM_001849.4(COL6A2):c.1816+12C>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3730335	NM_001849.4(COL6A2):c.220_231dup (p.Phe77_Ile78insValProGlnPhe)	COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3730036	NM_001848.3(COL6A1):c.385A>G (p.Thr129Ala)	COL6A1 (T129A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 3728652	NM_004369.4(COL6A3):c.2742C>T (p.Leu914=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3728027	NM_004369.4(COL6A3):c.297A>G (p.Lys99=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3727924	NM_004369.4(COL6A3):c.3603C>T (p.Ile1201=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3727855	NM_004369.4(COL6A3):c.6880-13T>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3727222	NM_004369.4(COL6A3):c.6714T>C (p.Pro2238=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3727088	NM_004369.4(COL6A3):c.6409-2A>G	COL6A3	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3726564	NM_004369.4(COL6A3):c.1313-11G>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3726155	NM_001849.4(COL6A2):c.219C>G (p.Phe73Leu)	COL6A2 (F73L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3726061	NM_004369.4(COL6A3):c.2445C>A (p.Pro815=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3725664	NM_004369.4(COL6A3):c.2527G>C (p.Asp843His)	COL6A3 (D236H +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3725595	NM_001848.3(COL6A1):c.228-8C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3725404	NM_001848.3(COL6A1):c.3039C>T (p.Leu1013=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3725219	NM_001849.4(COL6A2):c.345G>C (p.Arg115=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3723999	NM_001849.4(COL6A2):c.1521+17C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3723895	NM_001848.3(COL6A1):c.1003-3C>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GPathogenic
Select item 3723893	NM_001848.3(COL6A1):c.886G>A (p.Gly296Arg)	COL6A1 (G296R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 3723566	NM_001849.4(COL6A2):c.1527C>T (p.Asp509=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3722590	NM_001848.3(COL6A1):c.105C>T (p.Pro35=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3722483	NM_001848.3(COL6A1):c.1399-12A>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3722472	NM_001848.3(COL6A1):c.1611+16_1611+17delinsAT	COL6A1	Indel (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3722124	NM_004369.4(COL6A3):c.4026C>T (p.Leu1342=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3722019	NM_004369.4(COL6A3):c.5892A>G (p.Arg1964=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3720304	NM_001849.4(COL6A2):c.2537A>T (p.Glu846Val)	COL6A2 (E846V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3720120	NM_004369.4(COL6A3):c.6283-14G>T	COL6A3, LOC122889011	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3719957	NM_004369.4(COL6A3):c.2571C>T (p.Asp857=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3719832	NM_004369.4(COL6A3):c.6151C>T (p.Pro2051Ser)	COL6A3 (P1845S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3719630	NM_004369.4(COL6A3):c.6461G>T (p.Arg2154Leu)	COL6A3 (R1954L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3719623	NM_001849.4(COL6A2):c.246G>A (p.Gln82=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3719620	NM_001849.4(COL6A2):c.1077A>G (p.Glu359=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3719342	NM_004369.4(COL6A3):c.561A>G (p.Glu187=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3719333	NM_004369.4(COL6A3):c.5909G>T (p.Arg1970Leu)	COL6A3 (R1363L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3719179	NM_001849.4(COL6A2):c.2825T>C (p.Leu942Pro)	COL6A2 (L942P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3719046	NM_001848.3(COL6A1):c.302A>G (p.Gln101Arg)	COL6A1 (Q101R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 3718973	NM_001849.4(COL6A2):c.115+11_115+17del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3718634	NM_001848.3(COL6A1):c.588+19_588+20insCG	COL6A1	Insertion (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3718195	NM_004369.4(COL6A3):c.507T>C (p.Asp169=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3717563	NM_001849.4(COL6A2):c.1521+2_1521+8dup	COL6A2	Duplication (splice donor variant)	Bethlem myopathy 1A	GLikely benign
Select item 3717404	NM_004369.4(COL6A3):c.6880-5C>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3717085	NM_001849.4(COL6A2):c.1884C>T (p.Tyr628=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 3717068	NM_001849.4(COL6A2):c.1041C>T (p.Asp347=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3716859	NM_001848.3(COL6A1):c.2465-5C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3716804	NM_001849.4(COL6A2):c.789C>T (p.Tyr263=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3716803	NM_004369.4(COL6A3):c.5639G>C (p.Gly1880Ala)	COL6A3 (G1674A +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 3716424	NM_004369.4(COL6A3):c.3392G>T (p.Gly1131Val)	COL6A3 (G524V +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3716121	NM_001849.4(COL6A2):c.2051T>C (p.Leu684Pro)	COL6A2 (L684P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3716066	NM_001849.4(COL6A2):c.2776_2784dup (p.Ile928_Val929insAsnAlaIle)	COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3715777	NM_004369.4(COL6A3):c.3819C>T (p.Val1273=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3715760	NM_001848.3(COL6A1):c.738+19A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3715741	NM_001848.3(COL6A1):c.2837A>G (p.Asn946Ser)	COL6A1 (N946S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 3715599	NM_001849.4(COL6A2):c.1270-15G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3715515	NM_001849.4(COL6A2):c.257A>C (p.Tyr86Ser)	COL6A2 (Y86S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3714591	NM_001849.4(COL6A2):c.3034G>T (p.Asp1012Tyr)	COL6A2 (D1012Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3713861	NM_001848.3(COL6A1):c.1512G>A (p.Leu504=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3713836	NM_001848.3(COL6A1):c.987G>T (p.Gly329=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3713820	NM_004369.4(COL6A3):c.3457G>A (p.Val1153Met)	COL6A3 (V1153M +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3713769	NM_004369.4(COL6A3):c.3784C>T (p.Leu1262=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3713129	NM_001848.3(COL6A1):c.759+15dup	COL6A1	Duplication (intron variant)	Bethlem myopathy 1A	GBenign
Select item 3713034	NM_004369.4(COL6A3):c.4916A>G (p.Asp1639Gly)	COL6A3 (D1439G +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712919	NM_001849.4(COL6A2):c.2433C>G (p.Ile811Met)	COL6A2 (I811M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712868	NM_001848.3(COL6A1):c.227+12G>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3712837	NM_001848.3(COL6A1):c.1002G>A (p.Lys334=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712426	NM_004369.4(COL6A3):c.9046G>A (p.Gly3016Ser)	COL6A3 (G3016S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712113	NM_004369.4(COL6A3):c.6844G>A (p.Gly2282Arg)	COL6A3 (G2076R +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712081	NM_004369.4(COL6A3):c.5266G>T (p.Val1756Leu)	COL6A3 (V1149L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3712050	NM_001848.3(COL6A1):c.958-6T>C	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3711962	NM_004369.4(COL6A3):c.3240C>G (p.Phe1080Leu)	COL6A3 (F473L +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3711890	NM_004369.4(COL6A3):c.7216G>T (p.Ala2406Ser)	COL6A3 (A2406S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 3711860	NM_001848.3(COL6A1):c.859-17C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3711704	NM_004369.4(COL6A3):c.1183G>A (p.Asp395Asn)	COL6A3 (D189N +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 3711701	NM_001849.4(COL6A2):c.2422+18G>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3710527	NM_001849.4(COL6A2):c.1814G>A (p.Cys605Tyr)	COL6A2 (C605Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3710467	NM_001848.3(COL6A1):c.1336-13C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3710435	NM_004369.4(COL6A3):c.5099G>A (p.Arg1700Lys)	COL6A3 (R1500K +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3710399	NM_001848.3(COL6A1):c.1452A>G (p.Pro484=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3710238	NM_001848.3(COL6A1):c.450T>C (p.Asn150=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3710202	NM_001849.4(COL6A2):c.363C>T (p.Asn121=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3710020	NM_001848.3(COL6A1):c.2742del (p.Asp915fs)	COL6A1 (D915fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3709436	NM_004369.4(COL6A3):c.6310-17G>T	COL6A3, LOC122889011	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3709377	NM_004369.4(COL6A3):c.6905G>A (p.Gly2302Asp)	COL6A3 (G2102D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3709046	NM_001848.3(COL6A1):c.1399-19C>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3708467	NM_001849.4(COL6A2):c.1521+16C>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3708382	NM_004369.4(COL6A3):c.8757_8771del (p.2915AKPVA[1])	COL6A3	Deletion (inframe_indel)	Bethlem myopathy 1A	GUncertain significance
Select item 3708234	NM_004369.4(COL6A3):c.2115T>C (p.His705=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3708016	NM_004369.4(COL6A3):c.1251G>C (p.Pro417=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A	GLikely benign
Select item 3707975	NM_001848.3(COL6A1):c.285C>T (p.Asp95=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 3707725	NM_001848.3(COL6A1):c.2976C>T (p.Ala992=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GBenign
Select item 3707695	NM_001849.4(COL6A2):c.3005A>C (p.Tyr1002Ser)	COL6A2 (Y1002S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3707365	NM_004369.4(COL6A3):c.8128C>A (p.Gln2710Lys)	COL6A3 (Q2710K +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3707364	NM_001849.4(COL6A2):c.531C>T (p.Ala177=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3707176	NM_001849.4(COL6A2):c.543C>T (p.Arg181=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3707088	NM_001849.4(COL6A2):c.801+20T>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign

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