ClinVar for MedGen (Select 98045) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 363

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792221.	GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0 GRCh38: Chr13:23320540-23320858	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792192.	GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0 GRCh38: Chr13:23315907-23322480	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25784553.	NM_000231.3(SGCG):c.95G>A (p.Arg32Lys) GRCh37: Chr13:23777928 GRCh38: Chr13:23203789	SGCG	R32K, R50K	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance	no assertion criteria provided
Select item 24359144.	NM_000231.3(SGCG):c.655G>A (p.Glu219Lys) GRCh37: Chr13:23894852 GRCh38: Chr13:23320713	SGCG	E219K, E237K	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jul 21, 2020)	criteria provided, single submitter
Select item 24359125.	NM_000231.3(SGCG):c.385G>C (p.Gly129Arg) GRCh37: Chr13:23824856 GRCh38: Chr13:23250717	SGCG	G129R, G147R	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 24359116.	NM_000231.3(SGCG):c.256T>G (p.Phe86Val) GRCh37: Chr13:23808810 GRCh38: Chr13:23234671	SGCG	F104V, F86V	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Dec 30, 2019)	criteria provided, single submitter
Select item 24359107.	NM_000231.3(SGCG):c.462T>A (p.Asp154Glu) GRCh37: Chr13:23853574 GRCh38: Chr13:23279435	SGCG	D154E, D172E	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jun 17, 2019)	criteria provided, single submitter
Select item 24333468.	NM_000231.3(SGCG):c.369dup (p.Gly124fs) GRCh37: Chr13:23824839-23824840 GRCh38: Chr13:23250700-23250701	SGCG	G124fs, G142fs	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 24333449.	NM_000231.3(SGCG):c.361G>T (p.Glu121Ter) GRCh37: Chr13:23824832 GRCh38: Chr13:23250693	SGCG	E121, E139	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Jul 31, 2022)	criteria provided, single submitter
Select item 242261310.	NC_000013.10:g.(?_23777834)_(23985378_?)dup GRCh37: Chr13:23777834-23985378	SACS, SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 242261211.	NC_000013.10:g.(?_23898487)_(24463459_?)del GRCh37: Chr13:23898487-24463459	MIPEP, PCOTH, SACS, SGCG, TNFRSF19		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 242000212.	NM_000231.3(SGCG):c.702+9A>C GRCh37: Chr13:23894908 GRCh38: Chr13:23320769	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 241602413.	NM_000231.3(SGCG):c.-1+5G>A GRCh37: Chr13:23755219 GRCh38: Chr13:23181080	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 241569514.	NM_000231.3(SGCG):c.579-8C>T GRCh37: Chr13:23894768 GRCh38: Chr13:23320629	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 218352615.	NM_000231.3(SGCG):c.195+3A>G GRCh37: Chr13:23778031 GRCh38: Chr13:23203892	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 216384716.	NM_000231.3(SGCG):c.459A>G (p.Val153=) GRCh37: Chr13:23853571 GRCh38: Chr13:23279432	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 216368917.	NM_000231.3(SGCG):c.579-3C>T GRCh37: Chr13:23894773 GRCh38: Chr13:23320634	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215957718.	NM_000231.3(SGCG):c.605G>C (p.Ser202Thr) GRCh37: Chr13:23894802 GRCh38: Chr13:23320663	SGCG	S220T, S202T	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 215957119.	NM_000231.3(SGCG):c.360G>A (p.Gly120=) GRCh37: Chr13:23824831 GRCh38: Chr13:23250692	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 215895020.	NM_000231.3(SGCG):c.659C>T (p.Ala220Val) GRCh37: Chr13:23894856 GRCh38: Chr13:23320717	SGCG	A220V, A238V	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215655121.	NM_000231.3(SGCG):c.703-1G>A GRCh37: Chr13:23898506 GRCh38: Chr13:23324367	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 215154022.	NM_000231.3(SGCG):c.310C>A (p.Leu104Ile) GRCh37: Chr13:23824781 GRCh38: Chr13:23250642	SGCG	L122I, L104I	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 214996423.	NM_000231.3(SGCG):c.771C>T (p.Ser257=) GRCh37: Chr13:23898575 GRCh38: Chr13:23324436	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 214592524.	NM_000231.3(SGCG):c.703-16A>G GRCh37: Chr13:23898491 GRCh38: Chr13:23324352	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214532925.	NM_000231.3(SGCG):c.868T>G (p.Cys290Gly) GRCh37: Chr13:23898672 GRCh38: Chr13:23324533	SGCG	C290G, C308G	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 214466026.	NM_000231.3(SGCG):c.195+5G>A GRCh37: Chr13:23778033 GRCh38: Chr13:23203894	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (May 30, 2021)	criteria provided, single submitter
Select item 213746227.	NM_000231.3(SGCG):c.205G>C (p.Gly69Arg) GRCh37: Chr13:23808759 GRCh38: Chr13:23234620	SGCG	G87R, G69R	Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 213582828.	NM_000231.3(SGCG):c.552C>A (p.Val184=) GRCh37: Chr13:23869600 GRCh38: Chr13:23295461	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213578429.	NM_000231.3(SGCG):c.510T>C (p.Pro170=) GRCh37: Chr13:23869558 GRCh38: Chr13:23295419	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 211972330.	NM_000231.3(SGCG):c.768C>G (p.Gly256=) GRCh37: Chr13:23898572 GRCh38: Chr13:23324433	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211320031.	NM_000231.3(SGCG):c.312T>C (p.Leu104=) GRCh37: Chr13:23824783 GRCh38: Chr13:23250644	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210512432.	NM_000231.3(SGCG):c.196-9T>C GRCh37: Chr13:23808741 GRCh38: Chr13:23234602	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 209613933.	NM_000231.3(SGCG):c.298-8C>T GRCh37: Chr13:23824761 GRCh38: Chr13:23250622	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209523334.	NM_000231.3(SGCG):c.336T>C (p.Thr112=) GRCh37: Chr13:23824807 GRCh38: Chr13:23250668	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209454035.	NM_000231.3(SGCG):c.273T>C (p.Tyr91=) GRCh37: Chr13:23808827 GRCh38: Chr13:23234688	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209165236.	NM_000231.3(SGCG):c.579-10C>G GRCh37: Chr13:23894766 GRCh38: Chr13:23320627	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 209081337.	NM_000231.3(SGCG):c.743T>C (p.Val248Ala) GRCh37: Chr13:23898547 GRCh38: Chr13:23324408	SGCG	V266A, V248A	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 207717638.	NM_000231.3(SGCG):c.46G>C (p.Glu16Gln) GRCh37: Chr13:23777879 GRCh38: Chr13:23203740	SGCG	E34Q, E16Q	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 207274939.	NM_000231.3(SGCG):c.595C>T (p.Arg199Trp) GRCh37: Chr13:23894792 GRCh38: Chr13:23320653	SGCG	R217W, R199W	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 207255240.	NM_000231.3(SGCG):c.82A>C (p.Ile28Leu) GRCh37: Chr13:23777915 GRCh38: Chr13:23203776	SGCG	I46L, I28L	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206557641.	NM_000231.3(SGCG):c.379A>C (p.Lys127Gln) GRCh37: Chr13:23824850 GRCh38: Chr13:23250711	SGCG	K145Q, K127Q	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 206385642.	NM_000231.3(SGCG):c.800_801delinsCC (p.Cys267Ser) GRCh37: Chr13:23898604-23898605 GRCh38: Chr13:23324465-23324466	SGCG	C285S, C267S	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 206181343.	NM_000231.3(SGCG):c.385+20G>T GRCh37: Chr13:23824876 GRCh38: Chr13:23250737	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 205918744.	NM_000231.3(SGCG):c.563C>G (p.Pro188Arg) GRCh37: Chr13:23869611 GRCh38: Chr13:23295472	SGCG	P188R, P206R	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 205074145.	NM_000231.3(SGCG):c.643G>T (p.Ala215Ser) GRCh37: Chr13:23894840 GRCh38: Chr13:23320701	SGCG	A233S, A215S	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 204527646.	NM_000231.3(SGCG):c.27C>T (p.Ala9=) GRCh37: Chr13:23777860 GRCh38: Chr13:23203721	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 202832247.	NM_000231.3(SGCG):c.723T>A (p.Thr241=) GRCh37: Chr13:23898527 GRCh38: Chr13:23324388	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 202812548.	NM_000231.3(SGCG):c.618A>C (p.Pro206=) GRCh37: Chr13:23894815 GRCh38: Chr13:23320676	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202551649.	NM_000231.3(SGCG):c.260T>G (p.Leu87Ter) GRCh37: Chr13:23808814 GRCh38: Chr13:23234675	SGCG	L87, L105	Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 201927550.	NM_000231.3(SGCG):c.501A>G (p.Val167=) GRCh37: Chr13:23853613 GRCh38: Chr13:23279474	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 201766251.	NM_000231.3(SGCG):c.702+12C>T GRCh37: Chr13:23894911 GRCh38: Chr13:23320772	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201689552.	NM_000231.3(SGCG):c.385+1G>A GRCh37: Chr13:23824857 GRCh38: Chr13:23250718	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 200880753.	NM_000231.3(SGCG):c.363G>A (p.Glu121=) GRCh37: Chr13:23824834 GRCh38: Chr13:23250695	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 200521754.	NM_000231.3(SGCG):c.687T>C (p.His229=) GRCh37: Chr13:23894884 GRCh38: Chr13:23320745	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 199767555.	NM_000231.3(SGCG):c.441C>G (p.Gly147=) GRCh37: Chr13:23853553 GRCh38: Chr13:23279414	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199453956.	NM_000231.3(SGCG):c.630T>C (p.His210=) GRCh37: Chr13:23894827 GRCh38: Chr13:23320688	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 198159057.	NM_000231.3(SGCG):c.505+14C>G GRCh37: Chr13:23853631 GRCh38: Chr13:23279492	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 197778758.	NM_000231.3(SGCG):c.815T>G (p.Leu272Arg) GRCh37: Chr13:23898619 GRCh38: Chr13:23324480	SGCG	L272R, L290R	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 195835559.	NM_000231.3(SGCG):c.435C>A (p.Asn145Lys) GRCh37: Chr13:23853547 GRCh38: Chr13:23279408	SGCG	N163K, N145K	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 194353960.	NM_000231.3(SGCG):c.506-5T>C GRCh37: Chr13:23869549 GRCh38: Chr13:23295410	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 190550861.	NM_000231.3(SGCG):c.757G>A (p.Gly253Ser) GRCh37: Chr13:23898561 GRCh38: Chr13:23324422	SGCG	G271S, G253S	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 189753862.	NM_000231.3(SGCG):c.594T>C (p.Thr198=) GRCh37: Chr13:23894791 GRCh38: Chr13:23320652	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 172607063.	NM_000231.3(SGCG):c.253_254del (p.Glu85fs) GRCh37: Chr13:23808806-23808807 GRCh38: Chr13:23234667-23234668	SGCG	E103fs, E85fs	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172596464.	NM_000231.3(SGCG):c.302C>A (p.Ser101Ter) GRCh37: Chr13:23824773 GRCh38: Chr13:23250634	SGCG	S101, S119	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 172531665.	NM_000231.3(SGCG):c.260T>A (p.Leu87Ter) GRCh37: Chr13:23808814 GRCh38: Chr13:23234675	SGCG	L105, L87	Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 171497366.	NM_000231.3(SGCG):c.5T>C (p.Val2Ala) GRCh37: Chr13:23777838 GRCh38: Chr13:23203699	SGCG	V20A, V2A	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 170896867.	NM_000231.3(SGCG):c.386-9A>G GRCh37: Chr13:23853489 GRCh38: Chr13:23279350	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170755868.	NM_000231.3(SGCG):c.579-5729_702+1720del GRCh37: Chr13:23889047-23896619 GRCh38: Chr13:23314908-23322480	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic	criteria provided, single submitter
Select item 169131369.	NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) GRCh37: Chr13:23894778 GRCh38: Chr13:23320639	SGCG	L194, L212	Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic/Likely pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166713070.	NM_000231.3(SGCG):c.196-11T>C GRCh37: Chr13:23808739 GRCh38: Chr13:23234600	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 166057671.	NM_000231.3(SGCG):c.505+20A>G GRCh37: Chr13:23853637 GRCh38: Chr13:23279498	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Oct 3, 2021)	criteria provided, single submitter
Select item 165630372.	NM_000231.3(SGCG):c.540G>A (p.Glu180=) GRCh37: Chr13:23869588 GRCh38: Chr13:23295449	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 165078273.	NM_000231.3(SGCG):c.120T>C (p.Val40=) GRCh37: Chr13:23777953 GRCh38: Chr13:23203814	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 164374074.	NM_000231.3(SGCG):c.846G>A (p.Thr282=) GRCh37: Chr13:23898650 GRCh38: Chr13:23324511	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 23, 2021)	criteria provided, single submitter
Select item 164210875.	NM_000231.3(SGCG):c.506-10T>A GRCh37: Chr13:23869544 GRCh38: Chr13:23295405	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 163760976.	NM_000231.3(SGCG):c.768C>A (p.Gly256=) GRCh37: Chr13:23898572 GRCh38: Chr13:23324433	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 163708477.	NM_000231.3(SGCG):c.42C>T (p.Cys14=) GRCh37: Chr13:23777875 GRCh38: Chr13:23203736	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 1, 2021)	criteria provided, single submitter
Select item 163708278.	NM_000231.3(SGCG):c.506-6G>T GRCh37: Chr13:23869548 GRCh38: Chr13:23295409	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 1, 2021)	criteria provided, single submitter
Select item 163646879.	NM_000231.3(SGCG):c.321A>C (p.Ser107=) GRCh37: Chr13:23824792 GRCh38: Chr13:23250653	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 163577580.	NM_000231.3(SGCG):c.297+18C>G GRCh37: Chr13:23808869 GRCh38: Chr13:23234730	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 161246481.	NM_000231.3(SGCG):c.386-12T>C GRCh37: Chr13:23853486 GRCh38: Chr13:23279347	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 161064482.	NM_000231.3(SGCG):c.578+8T>G GRCh37: Chr13:23869634 GRCh38: Chr13:23295495	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Oct 14, 2021)	criteria provided, single submitter
Select item 160392183.	NM_000231.3(SGCG):c.240G>A (p.Leu80=) GRCh37: Chr13:23808794 GRCh38: Chr13:23234655	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 159816484.	NM_000231.3(SGCG):c.702+15A>G GRCh37: Chr13:23894914 GRCh38: Chr13:23320775	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 159357985.	NM_000231.3(SGCG):c.578+9_578+20del GRCh37: Chr13:23869632-23869643 GRCh38: Chr13:23295493-23295504	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 159256086.	NM_000231.3(SGCG):c.288C>T (p.His96=) GRCh37: Chr13:23808842 GRCh38: Chr13:23234703	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 158453887.	NM_000231.3(SGCG):c.141C>T (p.Leu47=) GRCh37: Chr13:23777974 GRCh38: Chr13:23203835	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 157972788.	NM_000231.3(SGCG):c.112T>C (p.Leu38=) GRCh37: Chr13:23777945 GRCh38: Chr13:23203806	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 155331689.	NM_000231.3(SGCG):c.579-17T>G GRCh37: Chr13:23894759 GRCh38: Chr13:23320620	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 153740490.	NM_000231.3(SGCG):c.506-15T>C GRCh37: Chr13:23869539 GRCh38: Chr13:23295400	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 153419691.	NM_000231.3(SGCG):c.645T>A (p.Ala215=) GRCh37: Chr13:23894842 GRCh38: Chr13:23320703	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 152098592.	NM_000231.3(SGCG):c.183G>A (p.Met61Ile) GRCh37: Chr13:23778016 GRCh38: Chr13:23203877	SGCG	M79I, M61I	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 151020893.	NC_000013.10:g.(?_23894756)_(23985378_?)dup GRCh37: Chr13:23894756-23985378	SACS, SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 150501894.	NM_000231.3(SGCG):c.44T>C (p.Ile15Thr) GRCh37: Chr13:23777877 GRCh38: Chr13:23203738	SGCG	I33T, I15T	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 149323395.	NC_000013.10:g.(?_23869544)_(23869636_?)dup GRCh37: Chr13:23869544-23869636	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Likely pathogenic (Feb 18, 2021)	criteria provided, single submitter
Select item 147922996.	NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) GRCh37: Chr13:23808824 GRCh38: Chr13:23234685	SGCG	L108F, L90F	Autosomal recessive limb-girdle muscular dystrophy type 2C	Uncertain significance (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146023297.	NC_000013.10:g.(?_23808730)_(23808871_?)del GRCh37: Chr13:23808730-23808871	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 145976298.	NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) GRCh37: Chr13:23777938 GRCh38: Chr13:23203799	SGCG	C53, C35	Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Jan 18, 2021)	criteria provided, single submitter
Select item 145973299.	NC_000013.10:g.(?_23824749)_(23853637_?)del GRCh37: Chr13:23824749-23853637	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 1459731100.	NC_000013.10:g.(?_23755215)_(23853627_?)del GRCh37: Chr13:23755215-23853627	SGCG		Autosomal recessive limb-girdle muscular dystrophy type 2C	Pathogenic (Dec 19, 2020)	criteria provided, single submitter

<< First< Prev

Page of 4