OXA1L[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 3053927	NM_005015.3(OXA1L):c.72T>C (p.Pro24=)	OXA1L	Single nucleotide variant (synonymous variant)	OXA1L-related disorder	GLikely benign
Select item 1241886	NM_005015.3(OXA1L):c.78G>A (p.Leu26=)	OXA1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251282	NM_005015.3(OXA1L):c.90C>G (p.Phe30Leu)	OXA1L (F30L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2644074	NM_005015.3(OXA1L):c.92G>C (p.Trp31Ser)	OXA1L (W31S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1339882	NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs)	OXA1L	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2548076	NM_005015.3(OXA1L):c.161C>T (p.Ala54Val)	OXA1L (A54V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345270	NM_005015.5(OXA1L):c.-14C>T	OXA1L	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2528820	NM_005015.5(OXA1L):c.-8C>G	OXA1L	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2471258	NM_005015.5(OXA1L):c.-6G>A	OXA1L	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2495465	NM_005015.5(OXA1L):c.7A>G (p.Met3Val)	OXA1L (M3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207517	NM_005015.5(OXA1L):c.17T>C (p.Met6Thr)	OXA1L (M6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239024	NM_005015.5(OXA1L):c.21C>G (p.Cys7Trp)	OXA1L (C7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318487	NM_005015.5(OXA1L):c.26G>C (p.Arg9Pro)	OXA1L (R9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375927	NM_005015.5(OXA1L):c.45G>C (p.Leu15Phe)	OXA1L (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207519	NM_005015.5(OXA1L):c.58C>A (p.Arg20Ser)	OXA1L (R20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553175	NM_005015.5(OXA1L):c.58C>G (p.Arg20Gly)	OXA1L (R20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207520	NM_005015.5(OXA1L):c.59G>C (p.Arg20Pro)	OXA1L (R20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244982	NM_005015.5(OXA1L):c.73G>A (p.Val25Ile)	OXA1L (V25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243345	NM_005015.5(OXA1L):c.95T>C (p.Leu32Pro)	OXA1L (L32P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207521	NM_005015.5(OXA1L):c.118C>T (p.Leu40Phe)	OXA1L (L40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207522	NM_005015.5(OXA1L):c.137C>G (p.Pro46Arg)	OXA1L (P46R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303752	NM_005015.5(OXA1L):c.161T>C (p.Leu54Pro)	OXA1L (L54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207523	NM_005015.5(OXA1L):c.164T>C (p.Phe55Ser)	OXA1L (F55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052047	NM_005015.5(OXA1L):c.225+8G>C	OXA1L	Single nucleotide variant (intron variant)	OXA1L-related disorder	GLikely benign
Select item 3303750	NM_005015.5(OXA1L):c.245T>C (p.Val82Ala)	OXA1L (V82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1320605	NM_005015.5(OXA1L):c.271G>A (p.Val91Ile)	OXA1L (V91I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3207524	NM_005015.5(OXA1L):c.279G>T (p.Glu93Asp)	OXA1L (E93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560159	NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs)	OXA1L (S110fs)	Duplication (frameshift variant)	Mitochondrial disease	GPathogenic
Select item 2484684	NM_005015.5(OXA1L):c.334G>A (p.Ala112Thr)	OXA1L (A112T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207525	NM_005015.5(OXA1L):c.422G>C (p.Trp141Ser)	OXA1L (W141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560160	NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe)	OXA1L (C147F)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic
Select item 2466465	NM_005015.5(OXA1L):c.454C>T (p.Arg152Cys)	OXA1L (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317118	NM_005015.5(OXA1L):c.475A>G (p.Ile159Val)	OXA1L (I159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207526	NM_005015.5(OXA1L):c.478G>A (p.Val160Met)	OXA1L (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342708	NM_005015.5(OXA1L):c.545G>A (p.Arg182Gln)	OXA1L (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300759	NM_005015.5(OXA1L):c.556G>T (p.Ala186Ser)	OXA1L (A186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303751	NM_005015.5(OXA1L):c.629G>A (p.Gly210Asp)	OXA1L (G210D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294902	NM_005015.5(OXA1L):c.629G>T (p.Gly210Val)	OXA1L (G210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207527	NM_005015.5(OXA1L):c.698C>G (p.Ala233Gly)	OXA1L (A233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207528	NM_005015.5(OXA1L):c.773T>G (p.Val258Gly)	OXA1L (V258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468689	NM_005015.5(OXA1L):c.788A>G (p.Tyr263Cys)	OXA1L (Y263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644075	NM_005015.5(OXA1L):c.799C>G (p.Leu267Val)	OXA1L (L267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207513	NM_005015.5(OXA1L):c.940G>A (p.Ala314Thr)	OXA1L (A314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728971	NM_005015.5(OXA1L):c.951G>T (p.Met317Ile)	OXA1L (M317I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1801780	NM_005015.5(OXA1L):c.961T>G (p.Ser321Ala)	OXA1L (S321A)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2284006	NM_005015.5(OXA1L):c.968A>G (p.Asn323Ser)	OXA1L (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207514	NM_005015.5(OXA1L):c.1015C>T (p.Arg339Cys)	OXA1L (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560867	NM_005015.5(OXA1L):c.1016G>A (p.Arg339His)	OXA1L (R339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161629	NM_005015.5(OXA1L):c.1018A>G (p.Thr340Ala)	OXA1L (T340A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3207515	NM_005015.5(OXA1L):c.1040G>A (p.Arg347His)	OXA1L (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216455	NM_005015.5(OXA1L):c.1073G>A (p.Arg358Gln)	OXA1L (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356127	NM_005015.5(OXA1L):c.1124C>T (p.Thr375Met)	OXA1L (T375M)	Single nucleotide variant (missense variant)	OXA1L-related disorder	GLikely benign
Select item 2365605	NM_005015.5(OXA1L):c.1126C>T (p.Arg376Cys)	OXA1L (R376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303749	NM_005015.5(OXA1L):c.1127G>A (p.Arg376His)	OXA1L (R376H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356674	NM_005015.5(OXA1L):c.1141C>T (p.Arg381Cys)	OXA1L (R381C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356732	NM_005015.5(OXA1L):c.1154T>C (p.Met385Thr)	OXA1L (M385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403461	NC_000014.9:g.22771506GCA[5]	OXA1L, SLC7A7	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 2278573	NM_005015.5(OXA1L):c.1282T>C (p.Tyr428His)	OXA1L (Y428H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045129	NM_005015.5(OXA1L):c.*5T>C	OXA1L	Single nucleotide variant (3 prime UTR variant)	OXA1L-related disorder	GLikely benign
Select item 6215	NC_000014.9:g.22772520_22777166del	OXA1L, SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 981171	Single allele	ABHD4, DAD1 +5 more	Deletion	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 686105	GRCh37/hg19 14q11.2(chr14:23135762-23265868)x3	OXA1L, SLC7A7	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564102	GRCh37/hg19 14q11.2(chr14:23240787-23468899)x1	SLC7A7, MMP14 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 85