ClinVar for MedGen (Select 338098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671696	NM_001849.4(COL6A2):c.2267_2272del (p.Ala756_Ile757del)	COL6A2	Deletion (inframe deletion)	Myosclerosis	GUncertain significance
Select item 1899537	NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)	COL6A2 (F1010S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GUncertain significance
Select item 1694468	NM_001849.4(COL6A2):c.101_104del (p.Asn34fs)	COL6A2 (N34fs)	Deletion (frameshift variant)	Myosclerosis +2 more	GPathogenic
Select item 1582979	NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)	COL6A2 (H850Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1032775	NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)	COL6A2 (C6S)	Single nucleotide variant (missense variant)	Myosclerosis +1 more	GUncertain significance
Select item 1020091	NM_001849.4(COL6A2):c.709G>A (p.Val237Ile)	COL6A2 (V237I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GUncertain significance
Select item 930819	NM_001849.4(COL6A2):c.1553C>G (p.Pro518Arg)	COL6A2 (P518R)	Single nucleotide variant (missense variant)	Myosclerosis	GUncertain significance
Select item 894941	NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 844254	NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)	COL6A2 (P357L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 617574	NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)	COL6A2 (M964T)	Single nucleotide variant (missense variant)	Myosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 617569	NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)	COL6A2 (C602*)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A +1 more	GLikely pathogenic
Select item 598545	NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)	COL6A2 (R720C)	Single nucleotide variant (missense variant)	Myosclerosis +2 more	GUncertain significance
Select item 502086	NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)	COL6A2 (F1010C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GUncertain significance
Select item 476487	NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)	COL6A2 (R115Q)	Single nucleotide variant (missense variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 476470	NM_001849.4(COL6A2):c.2470G>A (p.Val824Met)	COL6A2 (V824M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 369369	NC_000021.9:g.46136261G>A	COL6A2	Single nucleotide variant (genic downstream transcript variant)	not provided +2 more	GLikely benign
Select item 369368	NM_001849.3(COL6A2):c.*307G>A	COL6A2	Single nucleotide variant	Myosclerosis +1 more	GLikely benign
Select item 340414	NM_206965.2(FTCD):c.1470C>T (p.Gly490=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GBenign
Select item 340413	NM_206965.2(FTCD):c.1540-17_1540-16del	COL6A2, FTCD	Deletion (intron variant)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 340410	NM_006657.3(FTCD):c.*15C>A	COL6A2, FTCD (T564K)	Single nucleotide variant (missense variant +1 more)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 340408	NM_006657.3(FTCD):c.*67C>T	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 340405	NM_006657.3(FTCD):c.*127C>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 340404	NM_001849.4(COL6A2):c.*202C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +1 more	GUncertain significance
Select item 340403	NM_001849.4(COL6A2):c.*158C>T	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +3 more	GBenign
Select item 340402	NM_001849.4(COL6A2):c.*147C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 340401	NM_001849.4(COL6A2):c.*139G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 340400	NM_001849.4(COL6A2):c.*121C>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +1 more	GUncertain significance
Select item 340399	NM_001849.4(COL6A2):c.*119A>G	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency +3 more	GBenign/Likely benign
Select item 340398	NM_001849.4(COL6A2):c.*116T>C	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +3 more	GBenign/Likely benign
Select item 340397	NM_001849.4(COL6A2):c.*106G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GBenign/Likely benign
Select item 340396	NM_001849.4(COL6A2):c.*105C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GBenign/Likely benign
Select item 340395	NM_001849.4(COL6A2):c.*88G>C	COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 340394	NM_001849.4(COL6A2):c.*66C>G	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GBenign/Likely benign
Select item 340393	NM_001849.4(COL6A2):c.*61G>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340392	NM_001849.4(COL6A2):c.*56T>G	COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 340391	NM_001849.4(COL6A2):c.*45G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Myosclerosis +1 more	GBenign/Likely benign
Select item 340390	NM_001849.4(COL6A2):c.*31C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 340389	NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)	COL6A2 (D1012N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340388	NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu)	COL6A2 (D1001E)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GBenign/Likely benign
Select item 340387	NM_001849.4(COL6A2):c.2986G>A (p.Val996Met)	COL6A2 (V996M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 340386	NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)	COL6A2 (R993H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340385	NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)	COL6A2 (V973M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340384	NM_001849.4(COL6A2):c.2856G>A (p.Thr952=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 340383	NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)	COL6A2 (R930C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340382	NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340381	NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)	COL6A2 (T864M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340380	NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)	COL6A2 (V859M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340379	NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 340378	NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile)	COL6A2 (V835I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 340377	NM_001849.4(COL6A2):c.2436G>A (p.Val812=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 340376	NM_001849.4(COL6A2):c.2423-9C>G	COL6A2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340375	NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 340374	NM_001849.4(COL6A2):c.2264C>T (p.Thr755Met)	COL6A2 (T755M)	Single nucleotide variant (missense variant)	Myosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 340373	NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340372	NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)	COL6A2 (D712Y)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 340371	NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 340370	NM_001849.4(COL6A2):c.1734+14C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 340369	NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)	COL6A2 (R569Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 340368	NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340367	NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 340366	NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)	COL6A2 (R338H)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 340365	NM_001849.4(COL6A2):c.903C>T (p.Gly301=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GLikely benign
Select item 340364	NM_001849.4(COL6A2):c.901-10C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 340363	NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)	COL6A2 (A217T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340362	NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)	COL6A2 (T207R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 340361	NM_001849.4(COL6A2):c.542G>A (p.Arg181His)	COL6A2 (R181H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 340360	NM_001849.4(COL6A2):c.537G>A (p.Arg179=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 340359	NM_001849.4(COL6A2):c.116-11G>A	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 290937	NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 290722	NM_001849.4(COL6A2):c.81G>A (p.Ser27=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +4 more	GBenign/Likely benign
Select item 290721	NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +4 more	GBenign/Likely benign
Select item 290341	NM_001849.4(COL6A2):c.1817-4_1817-3dup	COL6A2	Duplication (intron variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 289911	NM_001849.4(COL6A2):c.1969+4A>C	COL6A2	Single nucleotide variant (intron variant)	Myosclerosis +2 more	GUncertain significance
Select item 288586	NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)	COL6A2 (D751N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 288305	NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)	COL6A2 (E903K)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 288081	NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 287938	NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)	COL6A2 (A649T)	Single nucleotide variant (missense variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 286822	NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)	COL6A2 (R724C)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 286447	NM_001849.4(COL6A2):c.189G>A (p.Thr63=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 286046	NM_001849.4(COL6A2):c.492C>T (p.His164=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 285721	NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)	COL6A2 (P111L)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 285193	NM_001849.4(COL6A2):c.791G>A (p.Arg264His)	COL6A2 (R264H)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 285087	NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +4 more	GBenign/Likely benign
Select item 284976	NM_001849.4(COL6A2):c.*5G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 284815	NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 284693	NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)	COL6A2 (G733R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 284555	NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)	COL6A2 (P497T)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +4 more	GConflicting classifications of pathogenicity
Select item 284090	NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)	COL6A2 (D438N)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GUncertain significance
Select item 283330	NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 283116	NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 282615	NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser)	COL6A2 (P584S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 282475	NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)	COL6A2 (V57I)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 282463	NM_001849.4(COL6A2):c.568G>A (p.Val190Met)	COL6A2 (V190M)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 282298	NM_001849.4(COL6A2):c.138C>T (p.His46=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GBenign/Likely benign
Select item 282239	NM_001849.4(COL6A2):c.1817-8C>A	COL6A2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 282237	NM_001849.4(COL6A2):c.1817-3del	COL6A2	Deletion (intron variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 282210	NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)	COL6A2 (V728M)	Single nucleotide variant (missense variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 282184	NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)	COL6A2 (G171R)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +4 more	GConflicting classifications of pathogenicity
Select item 281311	NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GBenign/Likely benign
Select item 281054	NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)	COL6A2 (R861Q)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity

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