ClinVar for MedGen (Select 1826098) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 213

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907999	NM_000337.6(SGCD):c.*4972A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 907997	NM_000337.6(SGCD):c.*4786G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907996	NM_000337.6(SGCD):c.*4696G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907925	NM_000337.6(SGCD):c.*2944G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 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 907922	NM_000337.6(SGCD):c.*2720G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907863	NM_000337.6(SGCD):c.*1358A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907862	NM_000337.6(SGCD):c.*1283C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 907860	NM_000337.6(SGCD):c.*1037C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907859	NM_000337.6(SGCD):c.*944C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907808	NM_000337.6(SGCD):c.661T>A (p.Cys221Ser)	SGCD (C220S +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907807	NM_000337.6(SGCD):c.209T>C (p.Leu70Pro)	SGCD (L69P +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 907014	NM_000337.6(SGCD):c.*6504T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 907013	NM_000337.6(SGCD):c.*6261T>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 907011	NM_000337.6(SGCD):c.*6133A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 906949	NM_000337.6(SGCD):c.*2521T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 906948	NM_000337.6(SGCD):c.*2476A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 906873	NM_000337.6(SGCD):c.*882G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 906872	NM_000337.6(SGCD):c.*817A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 906871	NM_000337.6(SGCD):c.*561T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905988	NM_000337.6(SGCD):c.*6064A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 905930	NM_000337.6(SGCD):c.*4451G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 905612	NM_000337.6(SGCD):c.*8351C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905554	NM_000337.6(SGCD):c.*7022G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905553	NM_000337.6(SGCD):c.*6985C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905552	NM_000337.6(SGCD):c.*6875G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GBenign
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 905479	NM_000337.6(SGCD):c.*5739A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905478	NM_000337.6(SGCD):c.*5415G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905345	NM_000337.6(SGCD):c.*2166A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905344	NM_000337.6(SGCD):c.*2152T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 905342	NM_000337.6(SGCD):c.*2089T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905341	NM_000337.6(SGCD):c.*2004G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 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 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 905273	NM_000337.6(SGCD):c.*535C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 905271	NM_000337.6(SGCD):c.*173T>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 905224	NM_000337.5(SGCD):c.-335T>G	SGCD	Single nucleotide variant (genic upstream transcript variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 904765	NM_000337.6(SGCD):c.*6636G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904764	NM_000337.6(SGCD):c.*6547G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 904687	NM_000337.6(SGCD):c.*5197T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	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 904547	NM_000337.6(SGCD):c.*1888G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904546	NM_000337.6(SGCD):c.*1877G>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904545	NM_000337.6(SGCD):c.*1788G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 904544	NM_000337.6(SGCD):c.*1578T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GLikely benign
Select item 904489	NM_000337.6(SGCD):c.699+15G>A	SGCD	Single nucleotide variant (synonymous variant +1 more)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 903698	NM_000337.6(SGCD):c.*8346G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 903697	NM_000337.6(SGCD):c.*8239C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 903696	NM_000337.6(SGCD):c.*8239C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 903695	NM_000337.6(SGCD):c.*8112A>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 903694	NM_000337.6(SGCD):c.*8071A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GBenign
Select item 903693	NM_000337.6(SGCD):c.*8041T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 903692	NM_000337.6(SGCD):c.*7877A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan	GUncertain significance
Select item 506908	NM_000337.6(SGCD):c.3+14G>A	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 464023	NM_000337.6(SGCD):c.832G>A (p.Ala278Thr)	SGCD (A278T +1 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 378577	NM_000337.6(SGCD):c.717G>A (p.Ala239=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 352454	NM_000337.6(SGCD):c.*8380A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352453	NM_000337.6(SGCD):c.*8355C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
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 352451	NM_000337.6(SGCD):c.8113_8114dup	SGCD	Duplication (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GUncertain significance
Select item 352450	NM_000337.6(SGCD):c.*8114dup	SGCD	Duplication (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 352449	NM_000337.6(SGCD):c.*7871G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352448	NM_000337.6(SGCD):c.*7866G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GBenign/Likely benign
Select item 352447	NM_000337.6(SGCD):c.*7816G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GBenign/Likely benign
Select item 352446	NM_000337.6(SGCD):c.*7815G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352445	NM_000337.6(SGCD):c.*7814C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +2 more	GBenign/Likely benign
Select item 352444	NM_000337.6(SGCD):c.*7596A>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +4 more	GBenign/Likely benign
Select item 352443	NM_000337.6(SGCD):c.*7559G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352442	NM_000337.6(SGCD):c.*7521G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
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 352440	NM_000337.6(SGCD):c.*7506C>G	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352439	NM_000337.6(SGCD):c.*7489G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352438	NM_000337.6(SGCD):c.*7300C>A	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 352437	NM_000337.6(SGCD):c.*7298A>C	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)	Dilated cardiomyopathy 1L +3 more	GUncertain significance
Select item 352435	NM_000337.6(SGCD):c.*7219G>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +1 more	GUncertain significance
Select item 352434	NM_000337.6(SGCD):c.*7196A>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352433	NM_000337.6(SGCD):c.*6917C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +1 more	GConflicting classifications of pathogenicity
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 352431	NM_000337.6(SGCD):c.*6785C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GUncertain significance
Select item 352430	NM_000337.6(SGCD):c.*6717G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign
Select item 352429	NM_000337.6(SGCD):c.*6683T>C	SGCD	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +1 more	GLikely benign
Select item 352428	NM_000337.6(SGCD):c.*6665G>A	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 352427	NM_000337.6(SGCD):c.*6661del	SGCD	Deletion (3 prime UTR variant)	Qualitative or quantitative defects of delta-sarcoglycan +2 more	GUncertain significance
Select item 352426	NM_000337.6(SGCD):c.*6660del	SGCD	Deletion (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 352425	NM_000337.6(SGCD):c.*6660dup	SGCD	Duplication (3 prime UTR variant)	Dilated cardiomyopathy 1L +4 more	GUncertain significance

<< First< Prev

Page of 3