"GeneDx"[submitter] AND "CAVIN1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 323275	NM_012232.6(CAVIN1):c.*190A>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1193122	NM_012232.6(CAVIN1):c.63_71dup	CAVIN1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 130057	NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)	CAVIN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 211974	NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)	CAVIN1 (Y308C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 130056	NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4 +2 more	GBenign/Likely benign
Select item 436447	NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)	CAVIN1	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 4 +2 more	GConflicting classifications of pathogenicity
Select item 30329	NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)	CAVIN1 (K173fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1231667	NM_012232.6(CAVIN1):c.472-256G>A	CAVIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250373	NM_012232.6(CAVIN1):c.472-285A>T	CAVIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241869	NM_012232.6(CAVIN1):c.472-287A>C	CAVIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240570	NM_012232.6(CAVIN1):c.472-317_472-315dup	CAVIN1	Duplication (intron variant)	not provided	GBenign
Select item 1223835	NM_012232.6(CAVIN1):c.472-317_472-314dup	CAVIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1211297	NM_012232.6(CAVIN1):c.472-317_472-306dup	CAVIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1343864	NM_012232.6(CAVIN1):c.472-305_472-304insAAAAC	CAVIN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1265616	NM_012232.6(CAVIN1):c.472-305_472-304insAAAC	CAVIN1	Insertion (intron variant)	not provided	GBenign
Select item 1258067	NM_012232.6(CAVIN1):c.472-306_472-305insAAC	CAVIN1	Insertion (intron variant)	not provided	GBenign
Select item 1261779	NM_012232.6(CAVIN1):c.471+257T>G	CAVIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295454	NM_012232.6(CAVIN1):c.471+125C>G	CAVIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 323279	NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)	CAVIN1 (M154I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571764	NM_012232.6(CAVIN1):c.187G>T (p.Gly63Trp)	CAVIN1 (G63W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193359	NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)	CAVIN1 (S56R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 4 +1 more	GConflicting classifications of pathogenicity
Select item 193360	NM_012232.6(CAVIN1):c.157C>G (p.Leu53Val)	CAVIN1 (L53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1239623	NC_000017.11:g.42423355C>T	CAVIN1	Single nucleotide variant	not provided	GBenign

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Items: 24