957[Gene ID] - 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	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 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 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	LOC130056067, LOC130056076 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 146052	GRCh38/hg38 14q24.3(chr14:73758142-73986307)x3	COQ6, ENTPD5 +23 more	Copy number gain	See cases	GUncertain significance
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 2808255	NM_182476.3(COQ6):c.299-13del	COQ6, ENTPD5	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1956090	NM_182476.3(COQ6):c.332G>A (p.Arg111Lys)	COQ6, ENTPD5 (R111K +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1416161	NM_182476.3(COQ6):c.346C>T (p.Arg116Trp)	COQ6, ENTPD5 (R91W +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1679762	NM_182476.3(COQ6):c.349C>T (p.Arg117Ter)	COQ6, ENTPD5 (R117* +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2615749	NM_182476.3(COQ6):c.350G>A (p.Arg117Gln)	COQ6, ENTPD5 (R92Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 830036	NM_182476.3(COQ6):c.357G>C (p.Gln119His)	COQ6, ENTPD5 (Q119H +1 more)	Single nucleotide variant (missense variant +3 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
Select item 2158096	NM_182476.3(COQ6):c.357+7del	COQ6, ENTPD5	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1931638	NM_182476.3(COQ6):c.357+15T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1187361	NM_182476.3(COQ6):c.357+55C>T	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1244547	NM_182476.3(COQ6):c.357+117G>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1247327	NM_182476.3(COQ6):c.358-122C>T	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 388269	NM_182476.3(COQ6):c.358-17T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2703796	NM_182476.3(COQ6):c.358-11T>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1674753	NM_182476.3(COQ6):c.366C>T (p.Asp122=)	ENTPD5, COQ6	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign/Likely benign
Select item 1389351	NM_182476.3(COQ6):c.367G>A (p.Ala123Thr)	COQ6, ENTPD5 (A123T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1502629	NM_182476.3(COQ6):c.387_389del (p.Ile129del)	COQ6, ENTPD5 (I104del +1 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 214234	NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)	COQ6, ENTPD5 (D107G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2722116	NM_182476.3(COQ6):c.413A>G (p.Asp138Gly)	COQ6, ENTPD5 (D113G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2118560	NM_182476.3(COQ6):c.422A>G (p.Tyr141Cys)	COQ6, ENTPD5 (Y141C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576463	NM_182476.3(COQ6):c.426C>T (p.Ile142=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2442539	NM_182476.3(COQ6):c.427G>A (p.Val143Met)	COQ6, ENTPD5 (V118M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1435094	NM_182476.3(COQ6):c.427G>T (p.Val143Leu)	COQ6, ENTPD5 (V118L +1 more)	Single nucleotide variant (synonymous variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GUncertain significance
Select item 3076330	NM_182476.3(COQ6):c.434A>G (p.Asn145Ser)	COQ6, ENTPD5 (N120S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214235	NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr)	COQ6, ENTPD5 (D121Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1577099	NM_182476.3(COQ6):c.438T>C (p.Asp146=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1049547	NM_182476.3(COQ6):c.449A>G (p.His150Arg)	COQ6, ENTPD5 (H125R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 377742	NM_182476.3(COQ6):c.453T>C (p.Ala151=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 2110559	NM_182476.3(COQ6):c.454C>G (p.Leu152Val)	COQ6, ENTPD5 (L152V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2834878	NM_182476.3(COQ6):c.456del (p.Thr153fs)	COQ6, ENTPD5 (T128fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 510062	NM_182476.3(COQ6):c.459T>C (p.Thr153=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2024995	NM_182476.3(COQ6):c.481+7C>G	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579108	NM_182476.3(COQ6):c.481+11del	COQ6, ENTPD5	Deletion (intron variant)	not provided	GBenign
Select item 1640697	NM_182476.3(COQ6):c.481+12A>G	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961550	NM_182476.3(COQ6):c.481+14del	COQ6, ENTPD5	Deletion (intron variant)	not provided	GLikely benign
Select item 1281916	NM_182476.3(COQ6):c.481+172G>A	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669472	NM_182476.3(COQ6):c.481+212T>C	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193224	NM_182476.3(COQ6):c.481+273G>A	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683566	NM_182476.3(COQ6):c.481+292T>C	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262149	NM_182476.3(COQ6):c.482-306G>A	COQ6, ENTPD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971050	NM_182476.3(COQ6):c.482-8C>T	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2117238	NM_182476.3(COQ6):c.482-5C>G	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 31598	NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)	COQ6, ENTPD5 (R162* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 2605591	NM_182476.3(COQ6):c.485G>T (p.Arg162Leu)	COQ6, ENTPD5 (R137L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1972428	NM_182476.3(COQ6):c.485G>A (p.Arg162Gln)	COQ6, ENTPD5 (R137Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 376896	NM_182476.3(COQ6):c.487G>A (p.Val163Met)	COQ6, ENTPD5 (V138M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1497342	NM_182476.3(COQ6):c.493G>A (p.Val165Ile)	COQ6, ENTPD5 (V140I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1715036	NM_182476.3(COQ6):c.497T>C (p.Leu166Pro)	COQ6, ENTPD5 (L141P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 512412	NM_182476.3(COQ6):c.498C>T (p.Leu166=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1940436	NM_182476.3(COQ6):c.524C>T (p.Thr175Ile)	COQ6, ENTPD5 (T150I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2002134	NM_182476.3(COQ6):c.537A>G (p.Pro179=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2277947	NM_182476.3(COQ6):c.546G>A (p.Met182Ile)	COQ6, ENTPD5 (M157I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2992442	NM_182476.3(COQ6):c.549C>T (p.Ala183=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2226508	NM_182476.3(COQ6):c.550G>A (p.Asp184Asn)	COQ6, ENTPD5 (D159N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1497165	NM_182476.3(COQ6):c.554C>G (p.Ser185Cys)	ENTPD5, COQ6 (S185C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 375341	NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)	COQ6, ENTPD5 (W163* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 128835	NM_182476.3(COQ6):c.570T>C (p.His190=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 2094026	NM_182476.3(COQ6):c.588C>T (p.Gly196=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644364	NM_182476.3(COQ6):c.591C>T (p.Ser197=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1953350	NM_182476.3(COQ6):c.609G>C (p.Leu203Phe)	COQ6, ENTPD5 (L203F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2963583	NM_182476.3(COQ6):c.610T>C (p.Leu204=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1250141	NM_182476.3(COQ6):c.612+76C>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 788803	NM_182476.3(COQ6):c.613-5T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 157517	NM_182476.3(COQ6):c.622G>C (p.Asp208His)	COQ6, ENTPD5 (D208H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2178734	NM_182476.3(COQ6):c.632A>G (p.Asn211Ser)	COQ6, ENTPD5 (N186S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1986312	NM_182476.3(COQ6):c.636C>T (p.Ser212=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1461886	NM_182476.3(COQ6):c.637G>A (p.Gly213Arg)	COQ6, ENTPD5 (G213R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2831702	NM_182476.3(COQ6):c.638G>C (p.Gly213Ala)	COQ6, ENTPD5 (G213A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1333560	NM_182476.3(COQ6):c.643C>T (p.Arg215Trp)	COQ6, ENTPD5 (R190W +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
Select item 2582498	NM_182476.3(COQ6):c.644G>T (p.Arg215Leu)	COQ6, ENTPD5 (R190L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GUncertain significance
Select item 2049324	NM_182476.3(COQ6):c.655G>A (p.Gly219Arg)	COQ6, ENTPD5 (G219R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1575674	NM_182476.3(COQ6):c.684C>T (p.Asp228=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 992501	NM_182476.3(COQ6):c.686A>C (p.Gln229Pro)	COQ6, ENTPD5 (Q229P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 2023537	NM_182476.3(COQ6):c.689C>G (p.Ser230Cys)	COQ6, ENTPD5 (S230C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1570448	NM_182476.3(COQ6):c.706C>T (p.Leu236=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2989109	NM_182476.3(COQ6):c.720+1G>T	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2019965	NM_182476.3(COQ6):c.720+5G>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1959250	NM_182476.3(COQ6):c.720+15T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2020962	NM_182476.3(COQ6):c.720+16G>A	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 515229	NM_182476.3(COQ6):c.720+20T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2788464	NM_182476.3(COQ6):c.721-20T>G	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2977396	NM_182476.3(COQ6):c.721-17T>C	COQ6, ENTPD5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1596051	NM_182476.3(COQ6):c.735C>T (p.Asn245=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644365	NM_182476.3(COQ6):c.741C>T (p.Ala247=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1991717	NM_182476.3(COQ6):c.762T>G (p.Ser254=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 375342	NM_182476.3(COQ6):c.763G>A (p.Gly255Arg)	COQ6, ENTPD5 (G230R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 807582	NM_182476.3(COQ6):c.782C>T (p.Pro261Leu)	COQ6, ENTPD5 (P261L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GPathogenic/Likely pathogenic
Select item 1908008	NM_182476.3(COQ6):c.783G>A (p.Pro261=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1322156	NM_182476.3(COQ6):c.788_789del (p.Leu262_Ser263insTer)	COQ6, ENTPD5	Deletion (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 1388038	NM_182476.3(COQ6):c.804del (p.Leu269fs)	COQ6, ENTPD5 (L244fs +6 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1714680	NM_182476.3(COQ6):c.824A>G (p.His275Arg)	COQ6, ENTPD5 (H250R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1473947	NM_182476.3(COQ6):c.838G>C (p.Glu280Gln)	COQ6, ENTPD5 (E280Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 377743	NM_182476.3(COQ6):c.843A>G (p.Leu281=)	COQ6, ENTPD5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign

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