284119[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 323256	NM_012232.6(CAVIN1):c.*1856C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 323258	NM_012232.6(CAVIN1):c.*1749T>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323259	NM_012232.6(CAVIN1):c.*1704C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323260	NM_012232.6(CAVIN1):c.*1591T>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 323261	NM_012232.6(CAVIN1):c.*1508G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 323263	NM_012232.6(CAVIN1):c.*1446G>C	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 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 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 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 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 892455	NM_012232.6(CAVIN1):c.*1110C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 889074	NM_012232.6(CAVIN1):c.*998G>A	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)	not provided +1 more	GBenign
Select item 889075	NM_012232.6(CAVIN1):c.*839G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4 +1 more	GLikely benign
Select item 323267	NM_012232.6(CAVIN1):c.*815A>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 323268	NM_012232.6(CAVIN1):c.*766T>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323269	NM_012232.6(CAVIN1):c.*703T>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 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 889775	NM_012232.6(CAVIN1):c.*462C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 323271	NM_012232.6(CAVIN1):c.*458C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 323274	NM_012232.6(CAVIN1):c.*195C>G	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
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 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 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 891312	NM_012232.6(CAVIN1):c.*104C>T	CAVIN1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1193122	NM_012232.6(CAVIN1):c.63_71dup	CAVIN1	Duplication (3 prime UTR variant)	not provided	GLikely benign
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 195287	NM_012232.6(CAVIN1):c.*10G>A	CAVIN1	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2610360	NM_012232.6(CAVIN1):c.1138G>C (p.Asp380His)	CAVIN1 (D380H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137861	NM_012232.6(CAVIN1):c.1125C>G (p.Ile375Met)	CAVIN1 (I375M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162815	NM_012232.6(CAVIN1):c.1102G>A (p.Asp368Asn)	CAVIN1 (D368N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3137860	NM_012232.6(CAVIN1):c.1087C>T (p.Arg363Cys)	CAVIN1 (R363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137859	NM_012232.6(CAVIN1):c.1072G>C (p.Ala358Pro)	CAVIN1 (A358P)	Single nucleotide variant (missense variant)	not specified	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 3137858	NM_012232.6(CAVIN1):c.1049A>C (p.Glu350Ala)	CAVIN1 (E350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 917427	NM_012232.6(CAVIN1):c.1038CGA[3] (p.Asp349del)	CAVIN1 (D349del)	Microsatellite (inframe_deletion)	Monogenic diabetes +1 more	GUncertain significance
Select item 218699	NM_012232.6(CAVIN1):c.1000G>A (p.Glu334Lys)	CAVIN1 (E334K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601884	NM_012232.6(CAVIN1):c.943G>A (p.Val315Ile)	CAVIN1 (V315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459415	NM_012232.6(CAVIN1):c.943G>T (p.Val315Phe)	CAVIN1 (V315F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746112	NM_012232.6(CAVIN1):c.927G>C (p.Ala309=)	CAVIN1	Single nucleotide variant (synonymous 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 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 285093	NM_012232.6(CAVIN1):c.909C>A (p.Pro303=)	CAVIN1	Single nucleotide variant (synonymous variant)	not provided	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 1298703	NM_012232.6(CAVIN1):c.897A>G (p.Lys299=)	CAVIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3137871	NM_012232.6(CAVIN1):c.875C>T (p.Thr292Met)	CAVIN1 (T292M)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 3137870	NM_012232.6(CAVIN1):c.815A>G (p.Lys272Arg)	CAVIN1 (K272R)	Single nucleotide variant (missense variant)	not specified	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 3046910	NM_012232.6(CAVIN1):c.729G>C (p.Lys243Asn)	CAVIN1 (K243N)	Single nucleotide variant (missense variant)	CAVIN1-related disorder	GLikely benign
Select item 729344	NM_012232.6(CAVIN1):c.717G>A (p.Glu239=)	CAVIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137869	NM_012232.6(CAVIN1):c.703G>A (p.Ala235Thr)	CAVIN1 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6601	NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)	CAVIN1 (K233fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
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 805254	NM_012232.6(CAVIN1):c.647C>T (p.Ser216Phe)	CAVIN1 (S216F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 393442	NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)	CAVIN1	Duplication (inframe_insertion)	See cases +2 more	GUncertain significance
Select item 3137868	NM_012232.6(CAVIN1):c.550G>A (p.Glu184Lys)	CAVIN1 (E184K)	Single nucleotide variant (missense variant)	not specified	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 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 3137867	NM_012232.6(CAVIN1):c.535C>T (p.Pro179Ser)	CAVIN1 (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6602	NM_012232.6(CAVIN1):c.526del (p.Glu176fs)	CAVIN1 (E176fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
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 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 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 30328	NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)	CAVIN1 (K161fs)	Duplication (frameshift variant)	Congenital generalized lipodystrophy type 4	GPathogenic
Select item 752625	NM_012232.6(CAVIN1):c.472-9T>C	CAVIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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