Related gene-specific medical variations for Gene (Select 1292) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 72

	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 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 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 2688841	NM_001849.4(COL6A2):c.2423-2_2426del	COL6A2	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2688840	NM_001849.4(COL6A2):c.1931G>A (p.Arg644Lys)	COL6A2 (R644K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688839	NM_001849.4(COL6A2):c.2380G>A (p.Ala794Thr)	COL6A2 (A794T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688838	NM_001849.4(COL6A2):c.1975C>G (p.Arg659Gly)	COL6A2 (R659G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688837	NM_001849.4(COL6A2):c.1315G>A (p.Gly439Ser)	COL6A2 (G439S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688835	NM_001849.4(COL6A2):c.1858_1860del (p.Ile620del)	COL6A2 (I620del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2688834	NM_001849.4(COL6A2):c.2302G>A (p.Glu768Lys)	COL6A2 (E768K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440408	NM_001849.4(COL6A2):c.2940G>C (p.Val980=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2440407	NM_001849.4(COL6A2):c.643G>T (p.Asp215Tyr)	COL6A2 (D215Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440406	NM_001849.4(COL6A2):c.2269A>G (p.Ile757Val)	COL6A2 (I757V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440404	NM_001849.4(COL6A2):c.2254G>T (p.Val752Phe)	COL6A2 (V752F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440403	NM_001849.4(COL6A2):c.1795A>G (p.Arg599Gly)	COL6A2 (R599G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440402	NM_001849.4(COL6A2):c.2702_2724delinsCG (p.Ile901_Thr907del)	COL6A2	Indel (inframe_deletion)	not provided	GUncertain significance
Select item 2440399	NM_001849.4(COL6A2):c.957G>C (p.Gly319=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2440398	NM_001849.4(COL6A2):c.1874G>A (p.Ser625Asn)	COL6A2 (S625N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440397	NM_001849.4(COL6A2):c.2758G>A (p.Gly920Ser)	COL6A2 (G920S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440396	NM_001849.4(COL6A2):c.1706G>T (p.Arg569Leu)	COL6A2 (R569L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440393	NM_001849.4(COL6A2):c.599G>T (p.Gly200Val)	COL6A2 (G200V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440392	NM_001849.4(COL6A2):c.2924C>T (p.Ala975Val)	COL6A2 (A975V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440390	NM_001849.4(COL6A2):c.955-3C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440389	NM_001849.4(COL6A2):c.1042C>T (p.Pro348Ser)	COL6A2 (P348S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440388	NM_001849.4(COL6A2):c.714G>A (p.Met238Ile)	COL6A2 (M238I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440387	NM_001849.4(COL6A2):c.1024C>T (p.Pro342Ser)	COL6A2 (P342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440385	NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)	COL6A2 (A189T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440384	NM_001849.4(COL6A2):c.706A>G (p.Lys236Glu)	COL6A2 (K236E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440383	NM_001849.4(COL6A2):c.3005_3006del (p.Asp1001_Tyr1002insTer)	COL6A2	Deletion (nonsense)	not provided	GUncertain significance
Select item 2440379	NM_001849.4(COL6A2):c.1017C>G (p.Ile339Met)	COL6A2 (I339M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440378	NM_001849.4(COL6A2):c.1148C>T (p.Pro383Leu)	COL6A2 (P383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440377	NM_001849.4(COL6A2):c.2764G>A (p.Val922Met)	COL6A2 (V922M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440375	NM_001849.4(COL6A2):c.1961C>A (p.Ser654Tyr)	COL6A2 (S654Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440374	NM_001849.4(COL6A2):c.119A>C (p.Lys40Thr)	COL6A2 (K40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440373	NM_001849.4(COL6A2):c.1031G>C (p.Cys344Ser)	COL6A2 (C344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439458	NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)	COL6A2 (D736fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2439454	NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)	COL6A2 (D740fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2439448	NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)	COL6A2 (V8fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2435801	NM_001849.4(COL6A2):c.839G>T (p.Gly280Val)	COL6A2 (G280V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1324140	NM_001849.4(COL6A2):c.115+2_115+8del	COL6A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1324139	NM_001849.4(COL6A2):c.1521+1G>A	COL6A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324137	NM_001849.4(COL6A2):c.893G>T (p.Gly298Val)	COL6A2 (G298V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1322145	NM_001849.4(COL6A2):c.1479dup (p.Asp494Ter)	COL6A2 (D494*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1322144	NM_001849.4(COL6A2):c.2082_2083dup (p.Glu695fs)	COL6A2 (E695fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1322143	NM_001849.4(COL6A2):c.869_899del (p.Ile290fs)	COL6A2 (I290fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184572	NM_001849.4(COL6A2):c.-27-3C>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1070015	NC_000021.8:g.(?_47533070)_47584395del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1070014	NC_000021.8:g.(?_47529674)_47540994del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1010762	NC_000021.8:g.(?_47518024)_47552476dup	COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 994530	NM_001849.4(COL6A2):c.*1C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 974882	NM_001849.4(COL6A2):c.1817-3C>G	COL6A2	Single nucleotide variant (intron variant)	not provided +1 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 896242	NM_001849.4(COL6A2):c.-76T>C	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 809313	GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1	COL6A2	Copy number loss	not provided	GLikely pathogenic
Select item 384609	NM_001849.4(COL6A2):c.-43G>T	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 374650	NM_001849.4(COL6A2):c.1142G>C (p.Arg381Thr)	COL6A2 (R381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262301	NM_001849.4(COL6A2):c.2461+2643G>A	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 262300	NM_001849.4(COL6A2):c.2462-2458C>T	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 258334	NM_001849.4(COL6A2):c.802-45C>T	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258329	NM_001849.4(COL6A2):c.2499C>T (p.Asp833=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 258327	NM_001849.4(COL6A2):c.2461+42G>A	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258325	NM_001849.4(COL6A2):c.2423-48C>T	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258324	NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCC	COL6A2	Microsatellite (intron variant)	not specified	GLikely benign
Select item 258323	NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)	COL6A2 (R734C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 258320	NM_001849.4(COL6A2):c.1672-45T>A	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258319	NM_001849.4(COL6A2):c.1672-25C>T	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258317	NM_001849.4(COL6A2):c.1609-46A>G	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258314	NM_001849.4(COL6A2):c.1269+32C>G	COL6A2	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 72