"COL6A2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054140	NM_001849.4(COL6A2):c.-6G>T	COL6A2	Single nucleotide variant (5 prime UTR variant)	COL6A2-related disorder	GLikely benign
Select item 283330	NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +5 more	GConflicting classifications of pathogenicity
Select item 288413	NM_001849.4(COL6A2):c.115+10G>T	COL6A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 543008	NM_001849.4(COL6A2):c.116-6C>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 642326	NM_001849.4(COL6A2):c.116-3C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 286220	NM_001849.4(COL6A2):c.219C>T (p.Phe73=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 497185	NM_001849.4(COL6A2):c.225G>T (p.Pro75=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 476486	NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn)	COL6A2 (D114N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2634965	NM_001849.4(COL6A2):c.371G>A (p.Gly124Asp)	COL6A2 (G124D)	Single nucleotide variant (missense variant)	COL6A2-related disorder	GUncertain significance
Select item 286046	NM_001849.4(COL6A2):c.492C>T (p.His164=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 93954	NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)	COL6A2 (G167S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 282184	NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)	COL6A2 (G171R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 706189	NM_001849.4(COL6A2):c.522G>A (p.Lys174=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 476490	NM_001849.4(COL6A2):c.624G>A (p.Pro208=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GLikely benign
Select item 287953	NM_001849.4(COL6A2):c.735+7G>A	COL6A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3032825	NM_001849.4(COL6A2):c.735+27T>G	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 93960	NM_001849.4(COL6A2):c.759A>G (p.Glu253=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 340365	NM_001849.4(COL6A2):c.903C>T (p.Gly301=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GLikely benign
Select item 2076212	NM_001849.4(COL6A2):c.936T>C (p.Phe312=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 595989	NM_001849.4(COL6A2):c.999+10G>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 283998	NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)	COL6A2 (D354N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1993127	NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)	COL6A2 (G355V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 194041	NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)	COL6A2 (P357R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 285233	NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)	COL6A2 (R377C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93904	NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 290928	NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289769	NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)	COL6A2 (G430S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194622	NM_001849.4(COL6A2):c.1333-10C>G	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +4 more	GConflicting classifications of pathogenicity
Select item 594262	NM_001849.4(COL6A2):c.1396-1G>A	COL6A2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 501823	NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser)	COL6A2 (G469S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 645764	NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser)	COL6A2 (G493S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 284555	NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)	COL6A2 (P497T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1574513	NM_001849.4(COL6A2):c.1522-20G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 281311	NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 93915	NM_001849.4(COL6A2):c.1671+9C>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder +2 more	GBenign/Likely benign
Select item 290927	NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)	COL6A2 (V574L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 895002	NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 93920	NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)	COL6A2 (T590M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 289581	NM_001849.4(COL6A2):c.1770+1del	COL6A2	Deletion (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3052827	NM_001849.4(COL6A2):c.1791C>T (p.Tyr597=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 498947	NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 543013	NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1425575	NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)	COL6A2 (R659C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 772482	NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder +1 more	GLikely benign
Select item 286822	NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)	COL6A2 (R724C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 290480	NM_001849.4(COL6A2):c.2205C>T (p.His735=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 289242	NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 3052666	NM_001849.4(COL6A2):c.2292C>T (p.His764=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 497585	NM_001849.4(COL6A2):c.2301C>T (p.His767=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 543031	NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 340375	NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +5 more	GBenign/Likely benign
Select item 195955	NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)	COL6A2 (D778N)	Single nucleotide variant (missense variant)	Myosclerosis +5 more	GBenign/Likely benign
Select item 501834	NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)	COL6A2 (V804I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3038550	NM_001849.4(COL6A2):c.2422+3G>A	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 2632720	NM_001849.4(COL6A2):c.2441C>G (p.Pro814Arg)	COL6A2 (P814R)	Single nucleotide variant (missense variant)	COL6A2-related disorder	GUncertain significance
Select item 3040912	NM_001849.4(COL6A2):c.2461+2354C>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 2652801	NM_058174.3(COL6A2):c.2469G>A (p.Pro823=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2635762	NM_058174.3(COL6A2):c.2474C>G (p.Pro825Arg)	COL6A2 (P825R)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GUncertain significance
Select item 2632833	NM_058174.3(COL6A2):c.2495C>T (p.Thr832Ile)	COL6A2 (T832I)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GUncertain significance
Select item 3032338	NM_058174.3(COL6A2):c.2504G>A (p.Arg835His)	COL6A2 (R835H)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GUncertain significance
Select item 3049172	NM_058174.3(COL6A2):c.2635G>A (p.Glu879Lys)	COL6A2 (E879K)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3034629	NM_058174.3(COL6A2):c.2643C>G (p.Ala881=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 262302	NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder +4 more	GBenign/Likely benign
Select item 3030084	NM_058174.3(COL6A2):c.2655C>T (p.Thr885=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3049984	NM_058174.3(COL6A2):c.2733C>T (p.Pro911=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3031659	NM_058174.3(COL6A2):c.2739C>T (p.Thr913=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3039378	NM_058174.3(COL6A2):c.2745G>C (p.Leu915=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 2632835	NM_001849.4(COL6A2):c.2462-2454C>T	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GUncertain significance
Select item 3033592	NM_001849.4(COL6A2):c.2462-2442C>T	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 3035398	NM_001849.4(COL6A2):c.2462-2441G>C	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 3033994	NM_001849.4(COL6A2):c.2462-2433C>G	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 706798	NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 340378	NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile)	COL6A2 (V835I)	Single nucleotide variant (missense variant)	COL6A2-related disorder +4 more	GBenign/Likely benign
Select item 196113	NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 2142746	NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder +1 more	GLikely benign
Select item 162538	NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)	COL6A2 (R853Q)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 391285	NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1480582	NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys)	COL6A2 (T864K)	Single nucleotide variant (missense variant)	COL6A2-related disorder +1 more	GUncertain significance
Select item 281164	NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)	COL6A2 (R867W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 93943	NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 289595	NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)	COL6A2 (V877M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196119	NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)	COL6A2 (S895R)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +4 more	GConflicting classifications of pathogenicity
Select item 285575	NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GBenign/Likely benign
Select item 288740	NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1086742	NM_001849.4(COL6A2):c.2757A>G (p.Ala919=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 17164	NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	COL6A2 (P932L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +6 more	GConflicting classifications of pathogenicity
Select item 196122	NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3053932	NM_001849.4(COL6A2):c.2856G>T (p.Thr952=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 497520	NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)	COL6A2 (S960L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284809	NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)	COL6A2 (A961V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285578	NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 288974	NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 196120	NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)	COL6A2 (M982V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 284831	NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)	COL6A2 (A1006V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 838813	NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del)	COL6A2	Deletion (inframe_deletion)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 340405	NM_006657.3(FTCD):c.*127C>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency +3 more	GConflicting classifications of pathogenicity

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Items: 97