"Invitae"[submitter] AND "SGCD"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 400

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1067099	NM_000337.6(SGCD):c.3+1G>T	SGCD	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2F	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 947854	NM_000337.6(SGCD):c.3+3G>C	SGCD	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 597387	NM_000337.6(SGCD):c.3+7A>G	SGCD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2164012	NM_000337.6(SGCD):c.3+13C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1903176	NM_000337.6(SGCD):c.3+13C>G	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 1651794	NM_000337.6(SGCD):c.3+14G>C	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1608553	NM_000337.6(SGCD):c.3+14G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 506908	NM_000337.6(SGCD):c.3+14G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +2 more	GConflicting classifications of pathogenicity
Select item 1941262	NM_000337.6(SGCD):c.3+15G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 2016463	NM_000337.6(SGCD):c.3+17A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1570109	NM_000337.6(SGCD):c.3+19C>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 255870	NM_000337.6(SGCD):c.3+19C>T	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely 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 139100	NM_000337.6(SGCD):c.3+20G>A	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1580198	NM_000337.6(SGCD):c.4-13T>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 178975	NM_000337.6(SGCD):c.4-12C>T	SGCD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1L +2 more	GConflicting classifications of pathogenicity
Select item 2141492	NM_000337.6(SGCD):c.4-11G>A	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1572269	NM_000337.6(SGCD):c.4-11G>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1136483	NM_000337.6(SGCD):c.4-7A>G	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1971610	NM_000337.6(SGCD):c.4-1G>C	SGCD	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely pathogenic
Select item 583211	NM_000337.6(SGCD):c.4-1G>T	SGCD	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GLikely pathogenic
Select item 532691	NM_000337.6(SGCD):c.4-1G>A	SGCD	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1L +2 more	GConflicting classifications of pathogenicity
Select item 2123794	NM_000337.6(SGCD):c.9T>C (p.Pro3=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1455950	NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)	SGCD (Q4* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 2166727	NM_000337.6(SGCD):c.15G>A (p.Glu5=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 202085	NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)	SGCD (E5D +1 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +6 more	GBenign/Likely benign
Select item 565451	NM_000337.6(SGCD):c.19T>C (p.Tyr7His)	SGCD (Y7H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 684822	NM_000337.6(SGCD):c.25C>T (p.His9Tyr)	SGCD (H8Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1444818	NM_000337.6(SGCD):c.28C>T (p.His10Tyr)	SGCD (H10Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1358322	NM_000337.6(SGCD):c.31C>T (p.Arg11Trp)	SGCD (R11W +1 more)	Single nucleotide variant (missense variant)	not specified +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 2124884	NM_000337.6(SGCD):c.33G>A (p.Arg11=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1010739	NM_000337.6(SGCD):c.35G>A (p.Ser12Asn)	SGCD (S11N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1040476	NM_000337.6(SGCD):c.38C>T (p.Thr13Ile)	SGCD (T13I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 2200686	NM_000337.6(SGCD):c.40A>G (p.Met14Val)	SGCD (M13V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 2195302	NM_000337.6(SGCD):c.41T>C (p.Met14Thr)	SGCD (M13T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 179738	NM_000337.6(SGCD):c.45T>A (p.Pro15=)	SGCD	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1936776	NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)	SGCD (G16D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
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 1650663	NM_000337.6(SGCD):c.54G>T (p.Val18=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 499300	NM_000337.6(SGCD):c.54G>A (p.Val18=)	SGCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2131524	NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)	SGCD (G19A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
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 285158	NM_000337.6(SGCD):c.65dup (p.Tyr23fs)	SGCD (Y22fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1115104	NM_000337.6(SGCD):c.66A>G (p.Val22=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 48121	NM_000337.6(SGCD):c.69C>T (p.Tyr23=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +3 more	GConflicting classifications of pathogenicity
Select item 411697	NM_000337.6(SGCD):c.74_77dup (p.Ile27fs)	SGCD (I26fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 48125	NM_000337.6(SGCD):c.84T>C (p.Tyr28=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 8173	NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)	SGCD (W30* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 1977494	NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)	SGCD (W30* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GPathogenic
Select item 760291	NM_000337.6(SGCD):c.91C>A (p.Arg31=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
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 532692	NM_000337.6(SGCD):c.98G>A (p.Arg33Gln)	SGCD (R33Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more	GUncertain significance
Select item 2031852	NM_000337.6(SGCD):c.99A>C (p.Arg33=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 1135025	NM_000337.6(SGCD):c.99A>T (p.Arg33=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 657433	NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr)	SGCD (C33Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1424860	NM_000337.6(SGCD):c.104T>C (p.Leu35Pro)	SGCD (L35P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1152288	NM_000337.6(SGCD):c.105G>T (p.Leu35=)	SGCD	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1L +2 more	GLikely benign
Select item 36771	NM_000337.6(SGCD):c.105G>C (p.Leu35=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 2178479	NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)	SGCD (F38L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1918451	NM_000337.6(SGCD):c.115G>C (p.Val39Leu)	SGCD (V38L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 202086	NM_000337.6(SGCD):c.116T>C (p.Val39Ala)	SGCD (V39A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1046220	NM_000337.6(SGCD):c.121C>A (p.Leu41Ile)	SGCD (L41I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 48115	NM_000337.6(SGCD):c.123C>G (p.Leu41=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1471677	NM_000337.6(SGCD):c.127A>T (p.Met43Leu)	SGCD (M42L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 2038662	NM_000337.6(SGCD):c.130A>G (p.Ile44Val)	SGCD (I43V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1501046	NM_000337.6(SGCD):c.131T>G (p.Ile44Ser)	SGCD (I44S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
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 139099	NM_000337.6(SGCD):c.144G>C (p.Val48=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1540898	NM_000337.6(SGCD):c.147C>T (p.Asn49=)	SGCD	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 701188	NM_000337.6(SGCD):c.153C>T (p.Ala51=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1418317	NM_000337.6(SGCD):c.155T>C (p.Met52Thr)	SGCD (M52T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 1933863	NM_000337.6(SGCD):c.159C>T (p.Thr53=)	SGCD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 464016	NM_000337.6(SGCD):c.175G>T (p.Val59Phe)	SGCD (V59F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
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 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 952712	NM_000337.6(SGCD):c.190A>G (p.Ile64Val)	SGCD (I64V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	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 551052	NM_000337.6(SGCD):c.192+1G>A	SGCD	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
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 1930397	NM_000337.6(SGCD):c.192+12C>T	SGCD	Single nucleotide variant (intron 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 1999176	NM_000337.6(SGCD):c.192+18G>T	SGCD	Single nucleotide variant (intron 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 1957387	NM_000337.6(SGCD):c.192+20T>G	SGCD	Single nucleotide variant (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 1588983	NM_000337.6(SGCD):c.193-20A>T	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 2186720	NM_000337.6(SGCD):c.193-18C>T	SGCD	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GLikely benign
Select item 378575	NM_000337.6(SGCD):c.193-17T>G	SGCD	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign

<< First< Prev

Page of 4