CN239244[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366703	NM_007126.5(VCP):c.*1035dup	VCP	Duplication (3 prime UTR variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 366709	NM_007126.5(VCP):c.*384del	VCP	Deletion (3 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 366716	NM_007126.5(VCP):c.1856T>C (p.Ile619Thr)	VCP (I619T +1 more)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 260119	NM_007126.5(VCP):c.1082-18_1082-8dup	VCP	Duplication (intron variant)	VCP-related condition +6 more	GBenign
Select item 366724	NM_007126.5(VCP):c.-233GCTGCC[4]	VCP	Microsatellite (5 prime UTR variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 366726	NM_007126.5(VCP):c.-267C>T	VCP	Single nucleotide variant (5 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +3 more	GBenign/Likely benign
Select item 366732	NM_004629.2(FANCG):c.1638T>C (p.Gly546=)	FANCG, VCP	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 259477	NM_004629.2(FANCG):c.1636+7A>G	FANCG, VCP	Single nucleotide variant (intron variant)	Inclusion Body Myopathy, Dominant +5 more	GBenign
Select item 134361	NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	FANCG, VCP (R513Q)	Single nucleotide variant (missense variant)	FANCG-related condition +6 more	GConflicting classifications of pathogenicity
Select item 134370	NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)	VCP, FANCG (S378L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +5 more	GBenign/Likely benign
Select item 134367	NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)	FANCG, VCP (T297I)	Single nucleotide variant (missense variant)	FANCG-related condition +6 more	GBenign/Likely benign
Select item 134366	NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)	FANCG, VCP (R214C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group G +4 more	GBenign/Likely benign
Select item 321662	NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn)	MYH2, MYHAS (I1765N)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321664	NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp)	LOC126862500, MYH2 +1 more (E1675D)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 321665	NM_017534.6(MYH2):c.4697G>A (p.Arg1566His)	LOC126862500, MYH2 +1 more (R1566H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 321666	NM_017534.6(MYH2):c.4537+7C>T	LOC126862500, MYH2 +1 more	Single nucleotide variant (intron variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 321668	NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 321669	NM_017534.6(MYH2):c.4110C>T (p.Ala1370=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 321670	NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val)	MYH2, MYHAS (A1336V)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321672	NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)	MYH2, MYHAS (L1237F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 321673	NM_017534.6(MYH2):c.3567A>G (p.Leu1189=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321674	NM_017534.6(MYH2):c.3489T>C (p.Thr1163=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 321675	NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys)	MYH2, MYHAS (R1120C)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321676	NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr)	MYH2, MYHAS (I1100T)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 321677	NM_017534.6(MYH2):c.3263+12_3263+15del	MYH2, MYHAS	Microsatellite (intron variant)	Inclusion Body Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 321678	NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)	MYH2, MYHAS (S1043F)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GConflicting classifications of pathogenicity
Select item 321681	NM_017534.6(MYH2):c.2655G>A (p.Thr885=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 321682	NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)	MYH2, MYHAS (T885M)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +2 more	GUncertain significance
Select item 321683	NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)	MYH2, MYHAS (R876G)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +3 more	GUncertain significance
Select item 321684	NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr)	MYH2, MYHAS (R799T)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 321685	NM_017534.6(MYH2):c.2331G>T (p.Gly777=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321688	NM_017534.6(MYH2):c.1711G>A (p.Val571Met)	MYH2, MYHAS (V571M)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +2 more	GUncertain significance
Select item 321689	NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu)	MYHAS, MYH2 (D548E)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321691	NM_017534.6(MYH2):c.1416+9G>A	MYH2, MYHAS	Single nucleotide variant (intron variant)	Inclusion Body Myopathy, Dominant	GUncertain significance
Select item 321692	NM_017534.6(MYH2):c.1227C>T (p.Val409=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	MYH2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 321693	NM_017534.6(MYH2):c.1068G>A (p.Thr356=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 321695	NM_017534.6(MYH2):c.579C>T (p.Ile193=)	LOC126862501, MYH2 +1 more	Single nucleotide variant (synonymous variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321696	NM_017534.6(MYH2):c.495C>A (p.Phe165Leu)	MYH2, MYHAS (F165L)	Single nucleotide variant (missense variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 260824	NM_017534.6(MYH2):c.399T>A (p.Pro133=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +3 more	GBenign
Select item 321697	NM_017534.6(MYH2):c.301G>C (p.Ala101Pro)	MYH2, MYHAS (A101P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 321698	NM_017534.6(MYH2):c.205-3C>T	MYH2, MYHAS	Single nucleotide variant (intron variant)	Inclusion Body Myopathy, Dominant +1 more	GUncertain significance
Select item 321699	NM_017534.6(MYH2):c.122C>T (p.Ala41Val)	MYH2, MYHAS (A41V)	Single nucleotide variant (missense variant)	Inclusion Body Myopathy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 321700	NM_017534.6(MYH2):c.87T>C (p.Asn29=)	MYH2, MYHAS	Single nucleotide variant (synonymous variant)	Inclusion Body Myopathy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 321702	NM_017534.6(MYH2):c.-10T>C	MYH2, MYHAS	Single nucleotide variant (5 prime UTR variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321703	NM_017534.6(MYH2):c.-60T>C	MYH2, MYHAS	Single nucleotide variant (5 prime UTR variant)	Myopathy, proximal, and ophthalmoplegia +1 more	GUncertain significance
Select item 321705	NM_017534.5(MYH2):c.-126A>G	MYH2, MYHAS	Single nucleotide variant	Inclusion Body Myopathy, Dominant	GLikely benign

ClinVar

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Items: 46