VIPAS39[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3188571	NM_001193315.2(VIPAS39):c.1463A>G (p.Gln488Arg)	VIPAS39 (Q393R +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1961856	NM_001193315.2(VIPAS39):c.1462-7dup	VIPAS39	Duplication (intron variant)	not provided	GLikely benign
Select item 1202490	NM_001193315.2(VIPAS39):c.1461+139A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185857	NM_001193315.2(VIPAS39):c.1461+115A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 595621	NM_001193315.2(VIPAS39):c.1461+8G>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1965294	NM_001193315.2(VIPAS39):c.1461G>A (p.Ser487=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 501089	NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)	VIPAS39 (S487L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 498683	NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)	VIPAS39 (S485R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 791401	NM_001193315.2(VIPAS39):c.1450C>T (p.Leu484Phe)	VIPAS39 (L484F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3233637	NM_001193315.2(VIPAS39):c.1426GAG[2] (p.Glu478del)	VIPAS39 (E383del +8 more)	Microsatellite (inframe_deletion +2 more)	not specified	GUncertain significance
Select item 597852	NM_001193315.2(VIPAS39):c.1393G>A (p.Ala465Thr)	VIPAS39 (A465T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987186	NM_001193315.2(VIPAS39):c.1379G>A (p.Arg460His)	VIPAS39 (R380H +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028747	NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)	VIPAS39 (D456N +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GUncertain significance
Select item 593294	NM_001193315.2(VIPAS39):c.1365G>C (p.Arg455=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 497773	NM_001193315.2(VIPAS39):c.1363C>T (p.Arg455Trp)	VIPAS39 (R455W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2002449	NM_001193315.2(VIPAS39):c.1357A>T (p.Thr453Ser)	VIPAS39 (T442S +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 261488	NM_001193315.2(VIPAS39):c.1357-35G>C	VIPAS39	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1221479	NM_001193315.2(VIPAS39):c.1356+230A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239634	NM_001193315.2(VIPAS39):c.1356+212C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195251	NM_001193315.2(VIPAS39):c.1356+99C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 497963	NM_001193315.2(VIPAS39):c.1356+8C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 594507	NM_001193315.2(VIPAS39):c.1348G>A (p.Val450Ile)	VIPAS39 (V450I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003022	NM_001193315.2(VIPAS39):c.1335G>A (p.Lys445=)	VIPAS39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905453	NM_001193315.2(VIPAS39):c.1332C>A (p.Phe444Leu)	VIPAS39 (F349L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2613937	NM_001193315.2(VIPAS39):c.1324A>G (p.Thr442Ala)	VIPAS39 (T347A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570887	NM_001193315.2(VIPAS39):c.1323C>G (p.Ala441=)	VIPAS39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 596664	NM_001193315.2(VIPAS39):c.1315A>G (p.Asn439Asp)	VIPAS39 (N439D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909077	NM_001193315.2(VIPAS39):c.1307C>T (p.Thr436Met)	VIPAS39 (T341M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1946199	NM_001193315.2(VIPAS39):c.1293G>A (p.Val431=)	VIPAS39	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 501616	NM_001193315.2(VIPAS39):c.1286A>G (p.Asn429Ser)	VIPAS39 (N429S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212829	NM_001193315.2(VIPAS39):c.1268T>G (p.Ile423Arg)	VIPAS39 (I330R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2915881	NM_001193315.2(VIPAS39):c.1267-7C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023024	NM_001193315.2(VIPAS39):c.1267-20G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275604	NM_001193315.2(VIPAS39):c.1267-200C>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260944	NM_001193315.2(VIPAS39):c.1266+220_1266+221insG	VIPAS39	Insertion (intron variant)	not provided	GBenign
Select item 1252300	NM_001193315.2(VIPAS39):c.1266+218del	VIPAS39	Deletion (intron variant)	not provided	GBenign
Select item 1233662	NM_001193315.2(VIPAS39):c.1266+216_1266+217insGAGAGCTGTG	VIPAS39	Insertion (intron variant)	not provided	GBenign
Select item 2745549	NM_001193315.2(VIPAS39):c.1266+7G>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 500964	NM_001193315.2(VIPAS39):c.1266+5T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261487	NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)	VIPAS39	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 194886	NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=)	VIPAS39	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3188569	NM_001193315.2(VIPAS39):c.1231G>A (p.Val411Ile)	VIPAS39 (V316I +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 502520	NM_001193315.2(VIPAS39):c.1226G>C (p.Arg409Pro)	VIPAS39 (R409P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077747	NM_001193315.2(VIPAS39):c.1223A>G (p.His408Arg)	VIPAS39 (H328R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 291275	NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2075284	NM_001193315.2(VIPAS39):c.1213A>G (p.Ile405Val)	VIPAS39 (I356V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 194887	NM_001193315.2(VIPAS39):c.1199A>G (p.Lys400Arg)	VIPAS39 (K400R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501528	NM_001193315.2(VIPAS39):c.1196C>T (p.Thr399Ile)	VIPAS39 (T399I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522399	NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter)	VIPAS39 (W395* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 3064954	NM_001193315.2(VIPAS39):c.1180-1G>C	VIPAS39	Single nucleotide variant (splice acceptor variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GUncertain significance
Select item 2797813	NM_001193315.2(VIPAS39):c.1180-10C>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857639	NM_001193315.2(VIPAS39):c.1180-22_1180-13del	VIPAS39	Deletion (intron variant)	not provided	GLikely benign
Select item 2977915	NM_001193315.2(VIPAS39):c.1180-16del	VIPAS39	Deletion (intron variant)	not provided	GBenign
Select item 1236977	NM_001193315.2(VIPAS39):c.1180-177T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261486	NM_001193315.2(VIPAS39):c.1179+20G>A	VIPAS39	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2975131	NM_001193315.2(VIPAS39):c.1179+17T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261485	NM_001193315.2(VIPAS39):c.1179+13C>G	VIPAS39	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 635327	NM_001193315.2(VIPAS39):c.1179+1G>A	VIPAS39	Single nucleotide variant (splice donor variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 1	GPathogenic
Select item 2987300	NM_001193315.2(VIPAS39):c.1170C>T (p.Phe390=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2726528	NM_001193315.2(VIPAS39):c.1167A>G (p.Leu389=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 288345	NM_001193315.2(VIPAS39):c.1164C>T (p.Ala388=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1701818	NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter)	VIPAS39 (R381* +6 more)	Single nucleotide variant (nonsense +2 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 3332069	NM_001193315.2(VIPAS39):c.1124C>G (p.Ala375Gly)	VIPAS39 (A326G +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2824414	NM_001193315.2(VIPAS39):c.1116A>G (p.Thr372=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1248220	NM_001193315.2(VIPAS39):c.1089+115A>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973930	NM_001193315.2(VIPAS39):c.1089+9A>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 501706	NM_001193315.2(VIPAS39):c.1089+8C>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 285416	NM_001193315.2(VIPAS39):c.1081A>G (p.Thr361Ala)	VIPAS39 (T361A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290964	NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 745731	NM_001193315.2(VIPAS39):c.1065C>T (p.Pro355=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2582752	NM_001193315.2(VIPAS39):c.1048-1G>T	VIPAS39	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely pathogenic
Select item 1255141	NM_001193315.2(VIPAS39):c.1047+146G>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2999797	NM_001193315.2(VIPAS39):c.1047+8C>A	VIPAS39	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1900456	NM_001193315.2(VIPAS39):c.1038A>G (p.Thr346=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 500248	NM_001193315.2(VIPAS39):c.1014C>T (p.Phe338=)	VIPAS39	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2166953	NM_001193315.2(VIPAS39):c.1008A>C (p.Thr336=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 498143	NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1028746	NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)	VIPAS39 (T286A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2117174	NM_001193315.2(VIPAS39):c.994C>G (p.Pro332Ala)	VIPAS39 (P332A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 286351	NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2271606	NM_001193315.2(VIPAS39):c.971G>A (p.Arg324His)	VIPAS39 (R244H +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3188578	NM_001193315.2(VIPAS39):c.970C>T (p.Arg324Cys)	VIPAS39 (R275C +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 501604	NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)	VIPAS39 (R320* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3188577	NM_001193315.2(VIPAS39):c.957C>A (p.Phe319Leu)	VIPAS39 (F239L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3188576	NM_001193315.2(VIPAS39):c.940G>A (p.Gly314Arg)	VIPAS39 (G265R +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 498034	NM_001193315.2(VIPAS39):c.940G>C (p.Gly314Arg)	VIPAS39 (G314R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356446	NM_001193315.2(VIPAS39):c.927T>C (p.His309=)	VIPAS39	Single nucleotide variant (synonymous variant +2 more)	VIPAS39-related disorder	GLikely benign
Select item 1573168	NM_001193315.2(VIPAS39):c.918T>C (p.Asn306=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595355	NM_001193315.2(VIPAS39):c.913-10T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1988749	NM_001193315.2(VIPAS39):c.913-12A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign

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