CFAP92[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 57792	GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3	ACAD9, ACAD9-DT +9 more	Copy number gain	See cases	GUncertain significance
Select item 665056	NC_000003.11:g.(?_128514201)_(128631967_?)dup	ACAD9-DT, CFAP92 +8 more	Duplication	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1219135	NM_001394090.1(CFAP92):c.*419T>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 676562	NM_001394090.1(CFAP92):c.*333T>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2654113	NM_001394090.1(CFAP92):c.*329C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2992343	NM_001394090.1(CFAP92):c.*294C>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2808943	NM_001394090.1(CFAP92):c.*294C>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2868814	NM_001394090.1(CFAP92):c.*293G>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2199232	NM_001394090.1(CFAP92):c.*292G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2776163	NM_001394090.1(CFAP92):c.*290G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2887046	NM_001394090.1(CFAP92):c.*289A>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1606968	NM_001394090.1(CFAP92):c.*288C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2711476	NM_001394090.1(CFAP92):c.*285T>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1078143	NM_001394090.1(CFAP92):c.*284A>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 242460	NM_014049.5(ACAD9):c.1564-6_1569del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2134001	NM_001394090.1(CFAP92):c.*282G>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1552329	NM_001394090.1(CFAP92):c.*282G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2047938	NM_014049.5(ACAD9):c.1566CAT[3] (p.Ile523_Met524insIle)	ACAD9, CFAP92	Microsatellite (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 2199685	NM_014049.5(ACAD9):c.1568T>C (p.Ile523Thr)	ACAD9, CFAP92 (I400T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1674312	NM_014049.5(ACAD9):c.1575G>A (p.Glu525=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1136105	NM_014049.5(ACAD9):c.1578G>A (p.Glu526=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1548500	NM_014049.5(ACAD9):c.1593G>A (p.Lys531=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 30884	NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	ACAD9, CFAP92 (R532W +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2679725	NM_014049.5(ACAD9):c.1597del (p.Val533fs)	ACAD9, CFAP92 (V410fs +1 more)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242459	NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln)	ACAD9, CFAP92 (R532Q +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 791689	NM_014049.5(ACAD9):c.1596G>C (p.Arg532=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2597273	NM_014049.5(ACAD9):c.1601C>T (p.Ala534Val)	ACAD9, CFAP92 (A411V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1100540	NM_014049.5(ACAD9):c.1602C>T (p.Ala534=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1641853	NM_014049.5(ACAD9):c.1605C>T (p.Asn535=)	CFAP92, ACAD9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2752396	NM_014049.5(ACAD9):c.1608C>T (p.Ile536=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1143840	NM_014049.5(ACAD9):c.1614C>T (p.Ile538=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1086621	NM_014049.5(ACAD9):c.1617C>T (p.Asn539=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2129527	NM_014049.5(ACAD9):c.1620G>A (p.Leu540=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1161534	NM_014049.5(ACAD9):c.1620G>C (p.Leu540=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2637212	NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys)	ACAD9, CFAP92 (Y418C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2999877	NM_014049.5(ACAD9):c.1632_1692+6del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2025921	NM_014049.5(ACAD9):c.1636_1650dup (p.Ala550_Ser551insValLeuSerArgAla)	ACAD9, CFAP92	Duplication (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 1116506	NM_014049.5(ACAD9):c.1631C>T (p.Thr544Met)	ACAD9, CFAP92 (T544M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2840912	NM_014049.5(ACAD9):c.1632G>T (p.Thr544=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1123244	NM_014049.5(ACAD9):c.1632G>A (p.Thr544=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1197496	NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly)	ACAD9, CFAP92 (A545G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1119069	NM_014049.5(ACAD9):c.1635C>T (p.Ala545=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1079513	NM_014049.5(ACAD9):c.1635C>G (p.Ala545=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2160733	NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)	ACAD9, CFAP92 (V423M +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1099152	NM_014049.5(ACAD9):c.1638G>A (p.Val546=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs +1 more)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1570055	NM_014049.5(ACAD9):c.1641G>A (p.Leu547=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2385298	NM_014049.5(ACAD9):c.1643C>T (p.Ser548Leu)	ACAD9, CFAP92 (S548L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1098214	NM_014049.5(ACAD9):c.1644G>A (p.Ser548=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 793303	NM_014049.5(ACAD9):c.1644G>T (p.Ser548=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 737722	NM_014049.5(ACAD9):c.1645C>A (p.Arg549=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1520012	NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	ACAD9, CFAP92 (R549Q +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 343205	NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2109638	NM_014049.5(ACAD9):c.1652G>C (p.Ser551Thr)	CFAP92, ACAD9 (S428T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2080127	NM_014049.5(ACAD9):c.1654C>T (p.Arg552Cys)	ACAD9, CFAP92 (R552C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2130200	NM_014049.5(ACAD9):c.1661del (p.Ile554fs)	ACAD9, CFAP92 (I554fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1984182	NM_014049.5(ACAD9):c.1663C>G (p.Arg555Gly)	ACAD9, CFAP92 (R555G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1377409	NM_014049.5(ACAD9):c.1663C>T (p.Arg555Cys)	ACAD9, CFAP92 (R555C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2145370	NM_014049.5(ACAD9):c.1664G>T (p.Arg555Leu)	ACAD9, CFAP92 (R432L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 900092	NM_014049.5(ACAD9):c.1664G>A (p.Arg555His)	ACAD9, CFAP92 (R555H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2882330	NM_014049.5(ACAD9):c.1665C>A (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2796329	NM_014049.5(ACAD9):c.1665C>T (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2701673	NM_014049.5(ACAD9):c.1665C>G (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 213992	NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)	ACAD9, CFAP92 (I556V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 213993	NM_014049.5(ACAD9):c.1667T>C (p.Ile556Thr)	ACAD9, CFAP92 (I556T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2057201	NM_014049.5(ACAD9):c.1668T>A (p.Ile556=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1479693	NM_014049.5(ACAD9):c.1674_1692+34del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +2 more	GLikely pathogenic
Select item 2067700	NM_001394090.1(CFAP92):c.3281-329_*171delinsATCAG	ACAD9, CFAP92	Indel (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 740872	NM_014049.5(ACAD9):c.1671G>A (p.Gly557=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1306480	NM_014049.5(ACAD9):c.1675C>T (p.Arg559Cys)	ACAD9, CFAP92 (R559C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 343206	NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser)	ACAD9, CFAP92 (R559S +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign/Likely benign
Select item 136256	NM_014049.5(ACAD9):c.1683C>T (p.His561=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 991434	NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)	ACAD9, CFAP92 (D562N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1981450	NM_014049.5(ACAD9):c.1687C>T (p.His563Tyr)	ACAD9, CFAP92 (H563Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 372250	NM_014049.5(ACAD9):c.1687C>G (p.His563Asp)	ACAD9, CFAP92 (H563D +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 1160143	NM_014049.5(ACAD9):c.1689C>T (p.His563=)	CFAP92, ACAD9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3240684	NM_014049.5(ACAD9):c.1690G>A (p.Glu564Lys)	ACAD9, CFAP92 (E441K +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1932297	NM_014049.5(ACAD9):c.1692+1G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 2834781	NM_014049.5(ACAD9):c.1692+2T>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1115232	NM_001394090.1(CFAP92):c.*137GGGCT[3]	ACAD9, CFAP92	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1669732	NM_001394090.1(CFAP92):c.*137GGGCT[1]	ACAD9, CFAP92	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 513592	NM_001394090.1(CFAP92):c.*142G>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2030179	NM_001394090.1(CFAP92):c.*141T>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2805852	NM_001394090.1(CFAP92):c.*139G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2759589	NM_001394090.1(CFAP92):c.*137G>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2729906	NM_001394090.1(CFAP92):c.*137G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2894534	NM_001394090.1(CFAP92):c.*130T>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1187365	NM_001394090.1(CFAP92):c.*28C>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675494	NM_001394090.1(CFAP92):c.*26C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 676563	NM_001394090.1(CFAP92):c.*5C>G	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3260748	NM_014049.5(ACAD9):c.1692+185_1692+188del	ACAD9, CFAP92	Microsatellite (intron variant)	Inborn genetic diseases	GLikely benign
Select item 672593	NM_001394090.1(CFAP92):c.3281-101G>A	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1879589	NM_001394090.1(CFAP92):c.3281-114A>T	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234686	NM_001394090.1(CFAP92):c.3281-142C>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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