ClinVar for MedGen (Select 412871) - ClinVar

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Items: 81

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069631.	NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter) GRCh37: Chr17:40574857 GRCh38: Chr17:42422839	CAVIN1	Q87*	Congenital generalized lipodystrophy type 4	Pathogenic (Jun 27, 2023)	no assertion criteria provided
Select item 24397722.	NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala) GRCh37: Chr17:40556961 GRCh38: Chr17:42404943	CAVIN1	V306A	Congenital generalized lipodystrophy type 4	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 24397713.	NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser) GRCh37: Chr17:40557031 GRCh38: Chr17:42405013	CAVIN1	P283S	Congenital generalized lipodystrophy type 4	Uncertain significance (Mar 25, 2020)	criteria provided, single submitter
Select item 24352994.	NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met) GRCh37: Chr17:40556973 GRCh38: Chr17:42404955	CAVIN1	T302M	Congenital generalized lipodystrophy type 4	Uncertain significance (Aug 30, 2019)	criteria provided, single submitter
Select item 24352985.	NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser) GRCh37: Chr17:40557135 GRCh38: Chr17:42405117	CAVIN1	T248S	Congenital generalized lipodystrophy type 4	Uncertain significance (Sep 9, 2019)	criteria provided, single submitter
Select item 24352976.	NM_012232.6(CAVIN1):c.256G>A (p.Val86Met) GRCh37: Chr17:40574860 GRCh38: Chr17:42422842	CAVIN1	V86M	Congenital generalized lipodystrophy type 4	Uncertain significance (Jul 10, 2019)	criteria provided, single submitter
Select item 24352967.	NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val) GRCh37: Chr17:40575054 GRCh38: Chr17:42423036	CAVIN1	A21V	Congenital generalized lipodystrophy type 4	Uncertain significance (Dec 9, 2019)	criteria provided, single submitter
Select item 24352958.	NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln) GRCh37: Chr17:40575088 GRCh38: Chr17:42423070	CAVIN1	E10Q	Congenital generalized lipodystrophy type 4	Uncertain significance (May 20, 2019)	criteria provided, single submitter
Select item 9820929.	NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) GRCh37: Chr17:40557328 GRCh38: Chr17:42405310	CAVIN1	E184*	Congenital generalized lipodystrophy type 4	Likely pathogenic	criteria provided, single submitter
Select item 89250910.	NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) GRCh37: Chr17:40557302 GRCh38: Chr17:42405284	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89250811.	NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp) GRCh37: Chr17:40557199 GRCh38: Chr17:42405181	CAVIN1	R227W	Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89250712.	NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly) GRCh37: Chr17:40557019 GRCh38: Chr17:42405001	CAVIN1	R287G	Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89245613.	NM_012232.6(CAVIN1):c.*999C>T GRCh37: Chr17:40555706 GRCh38: Chr17:42403688	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89245514.	NM_012232.6(CAVIN1):c.*1110C>T GRCh37: Chr17:40555595 GRCh38: Chr17:42403577	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89245415.	NM_012232.6(CAVIN1):c.*1201T>G GRCh37: Chr17:40555504 GRCh38: Chr17:42403486	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89245316.	NM_012232.6(CAVIN1):c.*1214G>A GRCh37: Chr17:40555491 GRCh38: Chr17:42403473	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89245217.	NM_012232.6(CAVIN1):c.*1313G>T GRCh37: Chr17:40555392 GRCh38: Chr17:42403374	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89131318.	NM_012232.6(CAVIN1):c.*31C>G GRCh37: Chr17:40556674 GRCh38: Chr17:42404656	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89131219.	NM_012232.6(CAVIN1):c.*104C>T GRCh37: Chr17:40556601 GRCh38: Chr17:42404583	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89131120.	NM_012232.6(CAVIN1):c.*158A>T GRCh37: Chr17:40556547 GRCh38: Chr17:42404529	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89126121.	NM_012232.6(CAVIN1):c.*1549C>T GRCh37: Chr17:40555156 GRCh38: Chr17:42403138	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88982722.	NM_012232.6(CAVIN1):c.-133C>G GRCh37: Chr17:40575248 GRCh38: Chr17:42423230	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88982623.	NM_012232.6(CAVIN1):c.12C>T (p.Pro4=) GRCh37: Chr17:40575104 GRCh38: Chr17:42423086	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88977524.	NM_012232.6(CAVIN1):c.*462C>T GRCh37: Chr17:40556243 GRCh38: Chr17:42404225	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88977425.	NM_012232.6(CAVIN1):c.*697A>C GRCh37: Chr17:40556008 GRCh38: Chr17:42403990	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88971126.	NM_012232.6(CAVIN1):c.*1895C>G GRCh37: Chr17:40554810 GRCh38: Chr17:42402792	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88971027.	NM_012232.6(CAVIN1):c.*1912C>T GRCh37: Chr17:40554793 GRCh38: Chr17:42402775	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88970928.	NM_012232.6(CAVIN1):c.*1955T>C GRCh37: Chr17:40554750 GRCh38: Chr17:42402732	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88914929.	NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) GRCh37: Chr17:40574919 GRCh38: Chr17:42422901	CAVIN1	D66G	Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88914830.	NM_012232.6(CAVIN1):c.232C>A (p.Arg78=) GRCh37: Chr17:40574884 GRCh38: Chr17:42422866	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88914731.	NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) GRCh37: Chr17:40574648 GRCh38: Chr17:42422630	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88914632.	NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val) GRCh37: Chr17:40557364 GRCh38: Chr17:42405346	CAVIN1	L172V	Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88907633.	NM_012232.6(CAVIN1):c.*810C>T GRCh37: Chr17:40555895 GRCh38: Chr17:42403877	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88907534.	NM_012232.6(CAVIN1):c.*839G>A GRCh37: Chr17:40555866 GRCh38: Chr17:42403848	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88907435.	NM_012232.6(CAVIN1):c.*998G>A GRCh37: Chr17:40555707 GRCh38: Chr17:42403689	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88901336.	NM_012232.6(CAVIN1):c.*2115G>T GRCh37: Chr17:40554590 GRCh38: Chr17:42402572	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 54954837.	NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) GRCh37: Chr17:40575051 GRCh38: Chr17:42423033	CAVIN1	P22L	Monogenic diabetes, Congenital generalized lipodystrophy type 4, not provided	Conflicting interpretations of pathogenicity (Feb 19, 2020)	criteria provided, conflicting interpretations
Select item 43644738.	NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) GRCh37: Chr17:40557338 GRCh38: Chr17:42405320	CAVIN1		not specified, not provided, Congenital generalized lipodystrophy type 4	Conflicting interpretations of pathogenicity (Feb 16, 2021)	criteria provided, conflicting interpretations
Select item 32328139.	NM_012232.6(CAVIN1):c.-143C>G GRCh37: Chr17:40575258 GRCh38: Chr17:42423240	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32328040.	NM_012232.6(CAVIN1):c.-50C>T GRCh37: Chr17:40575165 GRCh38: Chr17:42423147	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32327941.	NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) GRCh37: Chr17:40574654 GRCh38: Chr17:42422636	CAVIN1	M154I	Monogenic diabetes, not provided, Congenital generalized lipodystrophy type 4	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 32327842.	NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) GRCh37: Chr17:40557042 GRCh38: Chr17:42405024	CAVIN1	T279R	Congenital generalized lipodystrophy type 4	Uncertain significance (Apr 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32327743.	NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=) GRCh37: Chr17:40556825 GRCh38: Chr17:42404807	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32327644.	NM_012232.6(CAVIN1):c.*143C>G GRCh37: Chr17:40556562 GRCh38: Chr17:42404544	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32327545.	NM_012232.6(CAVIN1):c.*190A>G GRCh37: Chr17:40556515 GRCh38: Chr17:42404497	CAVIN1		Congenital generalized lipodystrophy type 4, not provided	Benign (Aug 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32327446.	NM_012232.6(CAVIN1):c.*195C>G GRCh37: Chr17:40556510 GRCh38: Chr17:42404492	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32327347.	NM_012232.6(CAVIN1):c.*347C>A GRCh37: Chr17:40556358 GRCh38: Chr17:42404340	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32327248.	NM_012232.6(CAVIN1):c.*363C>T GRCh37: Chr17:40556342 GRCh38: Chr17:42404324	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32327149.	NM_012232.6(CAVIN1):c.*458C>T GRCh37: Chr17:40556247 GRCh38: Chr17:42404229	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32327050.	NM_012232.6(CAVIN1):c.*522G>A GRCh37: Chr17:40556183 GRCh38: Chr17:42404165	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32326951.	NM_012232.6(CAVIN1):c.*703T>A GRCh37: Chr17:40556002 GRCh38: Chr17:42403984	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32326852.	NM_012232.6(CAVIN1):c.*766T>A GRCh37: Chr17:40555939 GRCh38: Chr17:42403921	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32326753.	NM_012232.6(CAVIN1):c.*815A>G GRCh37: Chr17:40555890 GRCh38: Chr17:42403872	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32326654.	NM_012232.6(CAVIN1):c.*906G>A GRCh37: Chr17:40555799 GRCh38: Chr17:42403781	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32326555.	NM_012232.6(CAVIN1):c.*1185T>C GRCh37: Chr17:40555520 GRCh38: Chr17:42403502	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32326456.	NM_012232.6(CAVIN1):c.*1232G>A GRCh37: Chr17:40555473 GRCh38: Chr17:42403455	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32326357.	NM_012232.6(CAVIN1):c.*1446G>C GRCh37: Chr17:40555259 GRCh38: Chr17:42403241	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32326258.	NM_012232.6(CAVIN1):c.*1479G>A GRCh37: Chr17:40555226 GRCh38: Chr17:42403208	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32326159.	NM_012232.6(CAVIN1):c.*1508G>A GRCh37: Chr17:40555197 GRCh38: Chr17:42403179	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32326060.	NM_012232.6(CAVIN1):c.*1591T>G GRCh37: Chr17:40555114 GRCh38: Chr17:42403096	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32325961.	NM_012232.6(CAVIN1):c.*1704C>G GRCh37: Chr17:40555001 GRCh38: Chr17:42402983	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32325862.	NM_012232.6(CAVIN1):c.*1749T>C GRCh37: Chr17:40554956 GRCh38: Chr17:42402938	CAVIN1		Congenital generalized lipodystrophy type 4	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32325763.	NM_012232.6(CAVIN1):c.*1788C>G GRCh37: Chr17:40554917 GRCh38: Chr17:42402899	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32325664.	NM_012232.6(CAVIN1):c.*1856C>T GRCh37: Chr17:40554849 GRCh38: Chr17:42402831	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 32325565.	NM_012232.6(CAVIN1):c.*1990A>C GRCh37: Chr17:40554715 GRCh38: Chr17:42402697	CAVIN1		Congenital generalized lipodystrophy type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32325466.	NM_012232.6(CAVIN1):c.*2048T>C GRCh37: Chr17:40554657 GRCh38: Chr17:42402639	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32325367.	NM_012232.6(CAVIN1):c.*2211G>A GRCh37: Chr17:40554494 GRCh38: Chr17:42402476	CAVIN1		Congenital generalized lipodystrophy type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 21197468.	NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) GRCh37: Chr17:40556955 GRCh38: Chr17:42404937	CAVIN1	Y308C	not specified, Monogenic diabetes, Congenital generalized lipodystrophy type 4, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2021)	criteria provided, conflicting interpretations
Select item 19528769.	NM_012232.6(CAVIN1):c.*10G>A GRCh37: Chr17:40556695 GRCh38: Chr17:42404677	CAVIN1		not provided, Congenital generalized lipodystrophy type 4	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 19336170.	NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) GRCh37: Chr17:40574760 GRCh38: Chr17:42422742	CAVIN1	V119D	not provided, Congenital generalized lipodystrophy type 4	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 19335971.	NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) GRCh37: Chr17:40574948 GRCh38: Chr17:42422930	CAVIN1	S56R	not provided, Congenital generalized lipodystrophy type 4	Conflicting interpretations of pathogenicity (Mar 26, 2021)	criteria provided, conflicting interpretations
Select item 13005772.	NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) GRCh37: Chr17:40556951 GRCh38: Chr17:42404933	CAVIN1		not specified, not provided, Congenital generalized lipodystrophy type 4	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 13005673.	NM_012232.6(CAVIN1):c.843G>A (p.Leu281=) GRCh37: Chr17:40557035 GRCh38: Chr17:42405017	CAVIN1		not specified, not provided, Congenital generalized lipodystrophy type 4	Benign/Likely benign (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3033074.	NM_012232.6(CAVIN1):c.471+1G>T GRCh37: Chr17:40574644 GRCh38: Chr17:42422626	CAVIN1		Congenital generalized lipodystrophy type 4	Pathogenic (Sep 1, 2010)	no assertion criteria provided
Select item 3032975.	NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) GRCh37: Chr17:40557357-40557360 GRCh38: Chr17:42405339-42405342	CAVIN1	K173fs	Congenital generalized lipodystrophy type 4	Pathogenic (Oct 20, 2019)	criteria provided, single submitter
Select item 3032876.	NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) GRCh37: Chr17:40557396-40557397 GRCh38: Chr17:42405378-42405379	CAVIN1	K161fs	Congenital generalized lipodystrophy type 4	Pathogenic (Sep 1, 2010)	no assertion criteria provided
Select item 3032777.	NM_012232.6(CAVIN1):c.135del (p.Lys45fs) GRCh37: Chr17:40574981 GRCh38: Chr17:42422963	CAVIN1	K45fs	Congenital generalized lipodystrophy type 4	Pathogenic (Sep 1, 2010)	no assertion criteria provided
Select item 660478.	NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) GRCh37: Chr17:40574753-40574754 GRCh38: Chr17:42422735-42422736	CAVIN1	K122fs	Congenital generalized lipodystrophy type 4	Pathogenic (Mar 12, 2010)	no assertion criteria provided
Select item 660379.	NM_012232.6(CAVIN1):c.160del (p.Val54fs) GRCh37: Chr17:40574956 GRCh38: Chr17:42422938	CAVIN1	V54fs	Congenital generalized lipodystrophy type 4	Pathogenic (Dec 30, 2017)	no assertion criteria provided
Select item 660280.	NM_012232.6(CAVIN1):c.526del (p.Glu176fs) GRCh37: Chr17:40557352 GRCh38: Chr17:42405334	CAVIN1	E176fs	Congenital generalized lipodystrophy type 4	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 660181.	NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) GRCh37: Chr17:40557181-40557182 GRCh38: Chr17:42405163-42405164	CAVIN1	K233fs	Congenital generalized lipodystrophy type 4	Pathogenic (Sep 1, 2009)	no assertion criteria provided

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Items: 81