CN239426[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31739	NM_033337.3(CAV3):c.-37G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 180795	NM_033337.3(CAV3):c.-33G>T	CAV3	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 31716	NM_033337.3(CAV3):c.27C>T (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Caveolinopathy +8 more	GBenign/Likely benign
Select item 31709	NM_033337.3(CAV3):c.99C>T (p.Asn33=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Caveolinopathy +5 more	GBenign/Likely benign
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration +13 more	GBenign/Likely benign
Select item 31714	NM_033337.3(CAV3):c.171G>A (p.Val57=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 346849	NM_033337.3(CAV3):c.259C>T (p.Leu87Phe)	CAV3, OXTR (L87F)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 35804	NM_033337.3(CAV3):c.417C>T (p.Val139=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 346850	NM_033337.3(CAV3):c.*276C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 346851	NM_033337.3(CAV3):c.*277G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 346852	NM_033337.3(CAV3):c.*433C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 346853	NM_033337.3(CAV3):c.*467T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 31718	NM_033337.3(CAV3):c.*543T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 31706	NM_033337.3(CAV3):c.*645A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 346855	NM_033337.3(CAV3):c.*722G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 346856	NM_033337.3(CAV3):c.*725T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +4 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346858	NM_033337.3(CAV3):c.*763G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 31720	NM_033337.3(CAV3):c.*783A>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 346859	NM_033337.3(CAV3):c.*788C>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 346860	NM_033337.3(CAV3):c.*805C>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 346861	NM_033337.3(CAV3):c.*813del	CAV3, OXTR	Deletion (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 31707	NM_033337.3(CAV3):c.*811C>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346864	NM_033337.3(CAV3):c.*853T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 351018	NM_006790.3(MYOT):c.-251A>G	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351019	NM_006790.3(MYOT):c.-233C>A	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GBenign/Likely benign
Select item 351020	NM_006790.3(MYOT):c.-165C>T	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 351021	NM_006790.3(MYOT):c.-89del	MYOT, PKD2L2-DT	Deletion (5 prime UTR variant +1 more)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 129683	NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)	MYOT, PKD2L2-DT	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +2 more	GBenign/Likely benign
Select item 281070	NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)	MYOT, PKD2L2-DT (N108T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +5 more	GConflicting classifications of pathogenicity
Select item 351022	NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)	MYOT, PKD2L2-DT (I112N)	Single nucleotide variant (5 prime UTR variant +2 more)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 351023	NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)	MYOT, PKD2L2-DT (A115S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 351025	NM_006790.3(MYOT):c.533G>A (p.Arg178His)	MYOT, PKD2L2-DT (R178H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 95441	NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)	MYOT, PKD2L2-DT (G91D +1 more)	Single nucleotide variant (missense variant)	MYOT-related condition +5 more	GBenign/Likely benign
Select item 129684	NM_006790.3(MYOT):c.780G>A (p.Ser260=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 351026	NM_006790.3(MYOT):c.817-11T>C	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	Myofibrillar myopathy 3 +2 more	GConflicting classifications of pathogenicity
Select item 198547	NM_006790.3(MYOT):c.981T>C (p.Asn327=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +5 more	GBenign/Likely benign
Select item 198548	NM_006790.3(MYOT):c.1008G>T (p.Val336=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +4 more	GBenign/Likely benign
Select item 351027	NM_006790.3(MYOT):c.1190+12A>G	PKD2L2-DT, MYOT	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 167318	NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)	MYOT, PKD2L2-DT (D286E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 351028	NM_006790.3(MYOT):c.1222T>C (p.Leu408=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3 +3 more	GConflicting classifications of pathogenicity
Select item 288959	NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)	MYOT, PKD2L2-DT (A429G +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 351029	NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)	MYOT, PKD2L2-DT (N467K +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 351030	NM_006790.3(MYOT):c.*98G>A	MYOT, PKD2L2-DT	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 351031	NM_006790.3(MYOT):c.*167A>G	MYOT, PKD2L2-DT	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 351032	NM_006790.3(MYOT):c.*190C>G	MYOT, PKD2L2-DT	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 3 +2 more	GBenign/Likely benign
Select item 351033	NM_006790.3(MYOT):c.*418T>C	MYOT, PKD2L2-DT	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 3 +2 more	GUncertain significance
Select item 351034	NM_006790.3(MYOT):c.*463C>T	MYOT, PKD2L2-DT	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 3 +2 more	GBenign/Likely benign
Select item 359447	NM_058246.4(DNAJB6):c.-93G>T	DNAJB6	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 262304	NM_058246.4(DNAJB6):c.-26-7C>T	DNAJB6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 359452	NM_058246.4(DNAJB6):c.347-14A>T	DNAJB6	Single nucleotide variant (intron variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 359453	NM_058246.4(DNAJB6):c.476C>T (p.Thr159Ile)	DNAJB6 (T159I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 359455	NM_058246.4(DNAJB6):c.692-13G>T	DNAJB6	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 286460	NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)	DNAJB6 (R287Q +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 226613	NM_058246.4(DNAJB6):c.899-6C>T	DNAJB6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 288447	NM_058246.4(DNAJB6):c.948G>A (p.Ser316=)	DNAJB6	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GBenign/Likely benign
Select item 283743	NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)	DNAJB6 (S321L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 359460	NM_058246.4(DNAJB6):c.*118G>A	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 359463	NM_058246.4(DNAJB6):c.*382G>A	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GBenign/Likely benign
Select item 359464	NM_058246.4(DNAJB6):c.*489T>C	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GLikely benign
Select item 359465	NM_058246.4(DNAJB6):c.*514G>A	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GBenign/Likely benign
Select item 359466	NM_058246.4(DNAJB6):c.*528C>T	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 359467	NM_058246.4(DNAJB6):c.*586T>C	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 359468	NM_058246.4(DNAJB6):c.*604C>G	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GBenign/Likely benign
Select item 359469	NM_058246.4(DNAJB6):c.*606A>G	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance
Select item 359470	NM_058246.4(DNAJB6):c.*610C>T	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 359477	NM_058246.4(DNAJB6):c.*787G>T	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GBenign/Likely benign
Select item 359480	NM_058246.4(DNAJB6):c.*966C>T	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GBenign/Likely benign
Select item 359481	NM_058246.4(DNAJB6):c.*1236G>A	DNAJB6	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +1 more	GUncertain significance

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Items: 73