ClinVar for Gene (Select 6444) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 767

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3231259	NM_000337.6(SGCD):c.807G>A (p.Gly269=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3231258	NM_000337.6(SGCD):c.38C>G (p.Thr13Ser)	SGCD (T12S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3231257	NM_000337.6(SGCD):c.264T>A (p.Pro88=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3160986	NM_000337.6(SGCD):c.388A>G (p.Lys130Glu)	SGCD (K129E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060381	NM_000337.6(SGCD):c.383-56TC[7]	SGCD	Microsatellite (intron variant)	SGCD-related disorder	GLikely benign
Select item 3041895	NM_000337.6(SGCD):c.3+8A>G	SGCD	Single nucleotide variant (intron variant)	SGCD-related disorder	GLikely benign
Select item 3037677	NM_000337.6(SGCD):c.383-56TC[9]	SGCD	Microsatellite (intron variant)	SGCD-related disorder	GLikely benign
Select item 3036808	NM_000337.6(SGCD):c.383-40C>T	SGCD	Single nucleotide variant (intron variant)	SGCD-related disorder	GLikely benign
Select item 3030917	NM_000337.6(SGCD):c.383-34_383-28del	SGCD	Microsatellite (intron variant)	SGCD-related disorder	GLikely benign
Select item 3022891	NM_000337.6(SGCD):c.477A>G (p.Val159=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3020454	NM_000337.6(SGCD):c.502+18A>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3015008	NM_000337.6(SGCD):c.193-18C>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3013440	NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)	SGCD (R162fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 3012286	NM_000337.6(SGCD):c.240A>G (p.Glu80=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3007107	NM_000337.6(SGCD):c.48C>T (p.Gly16=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3005471	NM_000337.6(SGCD):c.621A>C (p.Gly207=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 3004142	NM_000337.6(SGCD):c.502+13G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2998518	NM_000337.6(SGCD):c.300T>C (p.Asn100=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2995454	NM_000337.6(SGCD):c.447C>T (p.Leu149=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2973927	NM_000337.6(SGCD):c.192+14T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2968373	NM_000337.6(SGCD):c.382+12G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2959184	NM_000337.6(SGCD):c.503-13G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2955982	NM_000337.6(SGCD):c.762A>G (p.Thr254=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2955160	NM_000337.6(SGCD):c.186C>T (p.Phe62=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2918785	NM_000337.6(SGCD):c.729A>G (p.Leu243=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2915424	NM_000337.6(SGCD):c.383-9_383-8del	SGCD	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2915147	NM_000337.6(SGCD):c.193-20A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2914934	NM_000337.6(SGCD):c.295-20_295-17del	SGCD	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2914421	NM_000337.6(SGCD):c.267C>G (p.Leu89=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2913921	NM_000337.6(SGCD):c.255C>T (p.Phe85=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2913038	NM_000337.6(SGCD):c.700-15A>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2909140	NM_000337.6(SGCD):c.383-10T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2909098	NM_000337.6(SGCD):c.700-10_700-9del	SGCD	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2907162	NM_000337.6(SGCD):c.289C>A (p.Arg97=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2906247	NM_000337.6(SGCD):c.383-19_383-16del	SGCD	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2906128	NM_000337.6(SGCD):c.192+11C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2903535	NM_000337.6(SGCD):c.295-14T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2901737	NM_000337.6(SGCD):c.189A>G (p.Thr63=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2898162	NM_000337.6(SGCD):c.516A>C (p.Thr172=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2894654	NM_000337.6(SGCD):c.837G>A (p.Gly279=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2891909	NM_000337.6(SGCD):c.502+12T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2890451	NM_000337.6(SGCD):c.588A>G (p.Pro196=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2879668	NM_000337.6(SGCD):c.465T>C (p.Asn155=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2875045	NM_000337.6(SGCD):c.483T>A (p.Ala161=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2875043	NM_000337.6(SGCD):c.468A>G (p.Glu156=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2867930	NM_000337.6(SGCD):c.192+19G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2867231	NM_000337.6(SGCD):c.3+16del	SGCD	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2867223	NM_000337.6(SGCD):c.699+20G>C	SGCD (R240T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2864412	NM_000337.6(SGCD):c.531T>C (p.Ser177=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2863957	NM_000337.6(SGCD):c.288C>T (p.Ser96=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2861095	NM_000337.6(SGCD):c.405T>C (p.Tyr135=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2860081	NM_000337.6(SGCD):c.576-12G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2851764	NM_000337.6(SGCD):c.282C>A (p.Ile94=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2850405	NM_000337.6(SGCD):c.383-11_383-4dup	SGCD	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2846421	NM_000337.6(SGCD):c.503-13G>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2839280	NM_000337.6(SGCD):c.575+12A>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2838172	NM_000337.6(SGCD):c.700-16T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2835886	NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)	SGCD	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2829833	NM_000337.6(SGCD):c.4-14C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2828064	NM_000337.6(SGCD):c.57G>T (p.Gly19=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2820024	NM_000337.6(SGCD):c.171C>G (p.Leu57=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2819692	NM_000337.6(SGCD):c.700-20T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2816447	NM_000337.6(SGCD):c.654_655del (p.Glu218fs)	SGCD (E217fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2806526	NM_000337.6(SGCD):c.471G>A (p.Val157=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2799585	NM_000337.6(SGCD):c.819G>A (p.Leu273=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2795596	NM_000337.6(SGCD):c.502+11T>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2793915	NM_000337.6(SGCD):c.700-15A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2792840	NM_000337.6(SGCD):c.383-12_383-11insCCTCTCT	SGCD	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2786806	NM_000337.6(SGCD):c.383-15C>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2781632	NM_000337.6(SGCD):c.540A>G (p.Thr180=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2778643	NM_000337.6(SGCD):c.383-15C>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2760849	NM_000337.6(SGCD):c.414dup (p.Phe139fs)	SGCD (F139fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2754366	NM_000337.6(SGCD):c.357T>G (p.Thr119=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2749819	NM_000337.6(SGCD):c.700-17C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2742536	NM_000337.6(SGCD):c.571C>T (p.Leu191=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2742335	NM_000337.6(SGCD):c.383-11A>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2741520	NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)	SGCD (K57fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2741326	NM_000337.6(SGCD):c.502+19T>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2737924	NM_000337.6(SGCD):c.384T>C (p.Gly128=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2736398	NM_000337.6(SGCD):c.3+20G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2734729	NM_000337.6(SGCD):c.502+12T>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2730695	NM_000337.6(SGCD):c.546T>C (p.Asn182=)	SGCD	Single nucleotide variant (synonymous variant)	SGCD-related disorder +1 more	GLikely benign
Select item 2728662	NM_000337.6(SGCD):c.351C>T (p.Asp117=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2724205	NM_000337.6(SGCD):c.219A>G (p.Thr73=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2713896	NM_000337.6(SGCD):c.576-11G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2713565	NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)	SGCD	Microsatellite (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GPathogenic
Select item 2711292	NM_000337.6(SGCD):c.118C>T (p.Leu40=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2704495	NM_000337.6(SGCD):c.870C>A (p.Leu290=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2702831	NM_000337.6(SGCD):c.414A>G (p.Lys138=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2694478	NM_000337.6(SGCD):c.382+12del	SGCD	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2692973	NM_000337.6(SGCD):c.575+16T>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2682910	NM_000337.6(SGCD):c.3+5G>A	SGCD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2678702	NM_000337.6(SGCD):c.18_37del (p.Gln6fs)	SGCD (Q5fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678701	NM_000337.6(SGCD):c.699+1G>A	SGCD (V234M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678700	NM_000337.6(SGCD):c.441dup (p.Leu148fs)	SGCD (L147fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678699	NM_000337.6(SGCD):c.717dup (p.Lys240fs)	SGCD (K239fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678698	NM_000337.6(SGCD):c.400del (p.Ala134fs)	SGCD (A133fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2678697	NM_000337.6(SGCD):c.227del (p.Gly76fs)	SGCD (G75fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L	GLikely pathogenic
Select item 2655985	NM_000337.6(SGCD):c.*1873C>T	SGCD	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2632587	NM_000337.6(SGCD):c.67T>C (p.Tyr23His)	SGCD (Y22H +1 more)	Single nucleotide variant (missense variant)	SGCD-related disorder	GUncertain significance

<< First< Prev

Page of 8