ClinVar for MedGen (Select 412871) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236450	NM_012232.6(CAVIN1):c.512C>A (p.Ser171Ter)	CAVIN1 (S171*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 4	GLikely pathogenic
Select item 2506963	NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)	CAVIN1 (Q87*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 2439772	NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)	CAVIN1 (V306A)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2439771	NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)	CAVIN1 (P283S)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435299	NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)	CAVIN1 (T302M)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435298	NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)	CAVIN1 (T248S)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435297	NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)	CAVIN1 (V86M)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435296	NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)	CAVIN1 (A21V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 2435295	NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)	CAVIN1 (E10Q)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 982092	NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)	CAVIN1 (E184*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 4	GLikely pathogenic
Select item 892509	NM_012232.6(CAVIN1):c.576C>G (p.Pro192=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 892508	NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp)	CAVIN1 (R227W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892507	NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly)	CAVIN1 (R287G)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 892456	NM_012232.6(CAVIN1):c.*999C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 892455	NM_012232.6(CAVIN1):c.*1110C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 892454	NM_012232.6(CAVIN1):c.*1201T>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 892453	NM_012232.6(CAVIN1):c.*1214G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 892452	NM_012232.6(CAVIN1):c.*1313G>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 891313	NM_012232.6(CAVIN1):c.*31C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 891312	NM_012232.6(CAVIN1):c.*104C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 891311	NM_012232.6(CAVIN1):c.*158A>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 891261	NM_012232.6(CAVIN1):c.*1549C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889827	NM_012232.6(CAVIN1):c.-133C>G	CAVIN1	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 889826	NM_012232.6(CAVIN1):c.12C>T (p.Pro4=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889775	NM_012232.6(CAVIN1):c.*462C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 889774	NM_012232.6(CAVIN1):c.*697A>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889711	NM_012232.6(CAVIN1):c.*1895C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889710	NM_012232.6(CAVIN1):c.*1912C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 889709	NM_012232.6(CAVIN1):c.*1955T>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889149	NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly)	CAVIN1 (D66G)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889148	NM_012232.6(CAVIN1):c.232C>A (p.Arg78=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4 +1 more	GConflicting classifications of pathogenicity
Select item 889147	NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889146	NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val)	CAVIN1 (L172V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889076	NM_012232.6(CAVIN1):c.*810C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 889075	NM_012232.6(CAVIN1):c.*839G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 889074	NM_012232.6(CAVIN1):c.*998G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 889013	NM_012232.6(CAVIN1):c.*2115G>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 549548	NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)	CAVIN1 (P22L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 436447	NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)	CAVIN1	Single nucleotide variant (synonymous variant)	CAVIN1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 323281	NM_012232.6(CAVIN1):c.-143C>G	CAVIN1	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323280	NM_012232.6(CAVIN1):c.-50C>T	CAVIN1	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323279	NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)	CAVIN1 (M154I)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 323278	NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)	CAVIN1 (T279R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323277	NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323276	NM_012232.6(CAVIN1):c.*143C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323275	NM_012232.6(CAVIN1):c.*190A>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4 +1 more	GBenign
Select item 323274	NM_012232.6(CAVIN1):c.*195C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 323273	NM_012232.6(CAVIN1):c.*347C>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323272	NM_012232.6(CAVIN1):c.*363C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323271	NM_012232.6(CAVIN1):c.*458C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323270	NM_012232.6(CAVIN1):c.*522G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323269	NM_012232.6(CAVIN1):c.*703T>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323268	NM_012232.6(CAVIN1):c.*766T>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323267	NM_012232.6(CAVIN1):c.*815A>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323266	NM_012232.6(CAVIN1):c.*906G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323265	NM_012232.6(CAVIN1):c.*1185T>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323264	NM_012232.6(CAVIN1):c.*1232G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323263	NM_012232.6(CAVIN1):c.*1446G>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323262	NM_012232.6(CAVIN1):c.*1479G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323261	NM_012232.6(CAVIN1):c.*1508G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323260	NM_012232.6(CAVIN1):c.*1591T>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323259	NM_012232.6(CAVIN1):c.*1704C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323258	NM_012232.6(CAVIN1):c.*1749T>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GBenign
Select item 323257	NM_012232.6(CAVIN1):c.*1788C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323256	NM_012232.6(CAVIN1):c.*1856C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323255	NM_012232.6(CAVIN1):c.*1990A>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GUncertain significance
Select item 323254	NM_012232.6(CAVIN1):c.*2048T>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 323253	NM_012232.6(CAVIN1):c.*2211G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4	GLikely benign
Select item 211974	NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)	CAVIN1 (Y308C)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 195287	NM_012232.6(CAVIN1):c.*10G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193361	NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)	CAVIN1 (V119D)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4 +2 more	GConflicting classifications of pathogenicity
Select item 193359	NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)	CAVIN1 (S56R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4 +2 more	GConflicting classifications of pathogenicity
Select item 130057	NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)	CAVIN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130056	NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)	CAVIN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 30330	NM_012232.6(CAVIN1):c.471+1G>T	CAVIN1	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 30329	NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)	CAVIN1 (K173fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 30328	NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)	CAVIN1 (K161fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 30327	NM_012232.6(CAVIN1):c.135del (p.Lys45fs)	CAVIN1 (K45fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 6604	NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)	CAVIN1 (K122fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 6603	NM_012232.6(CAVIN1):c.160del (p.Val54fs)	CAVIN1 (V54fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 6602	NM_012232.6(CAVIN1):c.526del (p.Glu176fs)	CAVIN1 (E176fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 6601	NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)	CAVIN1 (K233fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic

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Items: 82