C1847667[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165220	NM_000337.5(SGCD):c.-404G>A	SGCD	Single nucleotide variant (genic upstream transcript variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GLikely benign
Select item 352330	NM_000337.5(SGCD):c.-135C>T	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GConflicting classifications of pathogenicity
Select item 177991	NM_000337.6(SGCD):c.-59G>A	SGCD	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1L +1 more	GConflicting classifications of pathogenicity
Select item 555052	NM_000337.6(SGCD):c.-44+1_-44+2dup	SGCD	Duplication (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 554848	NM_000337.6(SGCD):c.-44+2T>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 191774	NM_000337.6(SGCD):c.-43-1G>A	SGCD	Single nucleotide variant (splice acceptor variant +1 more)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 549998	NM_000337.6(SGCD):c.1A>G (p.Met1Val)	SGCD (M1V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 556722	NM_000337.6(SGCD):c.3+2T>A	SGCD	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1L +1 more	GUncertain significance
Select item 255869	NM_000337.6(SGCD):c.3+11C>T	SGCD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1L +2 more	GBenign/Likely benign
Select item 684822	NM_000337.6(SGCD):c.25C>T (p.His9Tyr)	SGCD (H8Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more	GUncertain significance
Select item 196256	NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)	SGCD (R11Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 652862	NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)	SGCD (R30W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 196255	NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)	SGCD (R31Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +5 more	GConflicting classifications of pathogenicity
Select item 1451957	NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	SGCD (R33* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 202087	NM_000337.6(SGCD):c.160A>G (p.Ile54Val)	SGCD (I54V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 202088	NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)	SGCD (I64T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 837681	NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)	SGCD (P97S +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 48119	NM_000337.6(SGCD):c.393C>T (p.Ala131=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 464019	NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)	SGCD (S145C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 8176	NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)	SGCD (S151A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 968720	NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)	SGCD (S151F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 411706	NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)	SGCD (D153G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352334	NM_000337.6(SGCD):c.475G>A (p.Val159Ile)	SGCD (V159I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more	GUncertain significance
Select item 165234	NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)	SGCD (R165Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 48120	NM_000337.6(SGCD):c.507G>A (p.Ala169=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 1005026	NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)	SGCD (G170S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 411708	NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)	SGCD (P187S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 411709	NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)	SGCD (K189R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 582822	NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)	SGCD (R198Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 1006947	NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)	SGCD (K205E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GUncertain significance
Select item 48122	NM_000337.6(SGCD):c.699+13_699+15del	SGCD (K238del)	Deletion (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 48124	NM_000337.6(SGCD):c.699+71G>A	SGCD	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 165235	NM_000337.6(SGCD):c.699+72A>C	SGCD	Single nucleotide variant (stop lost +1 more)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 352336	NM_000337.6(SGCD):c.716C>T (p.Ala239Val)	SGCD (A239V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 202089	NM_000337.6(SGCD):c.755C>T (p.Thr252Met)	SGCD (T252M +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352339	NM_000337.6(SGCD):c.*158G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 905272	NM_000337.6(SGCD):c.*440G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GUncertain significance
Select item 352345	NM_000337.6(SGCD):c.*753C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352349	NM_000337.6(SGCD):c.*906C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 907861	NM_000337.6(SGCD):c.*1047C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352355	NM_000337.6(SGCD):c.*1719G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 352357	NM_000337.6(SGCD):c.*1856A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 905338	NM_000337.6(SGCD):c.*1906C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905339	NM_000337.6(SGCD):c.*1907G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905340	NM_000337.6(SGCD):c.*1990C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905343	NM_000337.6(SGCD):c.*2139C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352362	NM_000337.6(SGCD):c.*2604T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 907923	NM_000337.6(SGCD):c.*2797A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352365	NM_000337.6(SGCD):c.*2813C>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 907924	NM_000337.6(SGCD):c.*2814G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 904621	NM_000337.6(SGCD):c.*3580G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352376	NM_000337.6(SGCD):c.*3779T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 352377	NM_000337.6(SGCD):c.*3845T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 352393	NM_000337.6(SGCD):c.*4608G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 907998	NM_000337.6(SGCD):c.*4935C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352398	NM_000337.6(SGCD):c.*4993A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 352404	NM_000337.6(SGCD):c.*5337G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352406	NM_000337.6(SGCD):c.*5467G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +3 more	GUncertain significance
Select item 352407	NM_000337.6(SGCD):c.*5591G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 352410	NM_000337.6(SGCD):c.*5749C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 905480	NM_000337.6(SGCD):c.*5819G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 905987	NM_000337.6(SGCD):c.*5884A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352413	NM_000337.6(SGCD):c.*5907T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 352418	NM_000337.6(SGCD):c.*6065A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 907010	NM_000337.6(SGCD):c.*6127G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 907012	NM_000337.6(SGCD):c.*6186C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352419	NM_000337.6(SGCD):c.*6223T>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 904763	NM_000337.6(SGCD):c.*6518C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352425	NM_000337.6(SGCD):c.*6660dup	SGCD	Duplication (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +4 more	GUncertain significance
Select item 904766	NM_000337.6(SGCD):c.*6664C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352432	NM_000337.6(SGCD):c.*6833G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352436	NM_000337.6(SGCD):c.*7231A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 352437	NM_000337.6(SGCD):c.*7298A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 352441	NM_000337.6(SGCD):c.*7507A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352443	NM_000337.6(SGCD):c.*7559G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance
Select item 907070	NM_000337.6(SGCD):c.*7566C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352444	NM_000337.6(SGCD):c.*7596A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 352452	NM_000337.6(SGCD):c.*8110A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 905613	NM_000337.6(SGCD):c.*8356T>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +2 more	GUncertain significance
Select item 352454	NM_000337.6(SGCD):c.*8380A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +3 more	GUncertain significance

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Items: 80