UBXN6[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2311089	NM_025241.3(UBXN6):c.1294G>A (p.Glu432Lys)	CHAF1A, UBXN6 (E379K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185921	NM_025241.3(UBXN6):c.1272G>C (p.Glu424Asp)	CHAF1A, UBXN6 (E424D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233448	NM_025241.3(UBXN6):c.1270G>A (p.Glu424Lys)	CHAF1A, UBXN6 (E371K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263062	NM_025241.3(UBXN6):c.1262C>T (p.Ala421Val)	CHAF1A, UBXN6 (A421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364942	NM_025241.3(UBXN6):c.1240G>A (p.Val414Met)	CHAF1A, UBXN6 (V361M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185920	NM_025241.3(UBXN6):c.1237G>A (p.Ala413Thr)	CHAF1A, UBXN6 (A360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614187	NM_025241.3(UBXN6):c.1090G>T (p.Gly364Trp)	CHAF1A, UBXN6 (G311W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345819	NM_025241.3(UBXN6):c.973A>G (p.Lys325Glu)	CHAF1A, UBXN6 (K272E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276493	NM_025241.3(UBXN6):c.953G>A (p.Arg318Gln)	CHAF1A, UBXN6 (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185930	NM_025241.3(UBXN6):c.950T>C (p.Leu317Pro)	CHAF1A, UBXN6 (L264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281201	NM_025241.3(UBXN6):c.946G>C (p.Val316Leu)	CHAF1A, UBXN6 (V263L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604896	NM_025241.3(UBXN6):c.938G>A (p.Arg313Gln)	CHAF1A, UBXN6 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365281	NM_025241.3(UBXN6):c.938G>T (p.Arg313Leu)	CHAF1A, UBXN6 (R313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185929	NM_025241.3(UBXN6):c.937C>T (p.Arg313Trp)	CHAF1A, UBXN6 (R313W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332027	NM_025241.3(UBXN6):c.881A>G (p.Asn294Ser)	CHAF1A, UBXN6 (N241S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185927	NM_025241.3(UBXN6):c.879C>A (p.Phe293Leu)	CHAF1A, UBXN6 (F293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185926	NM_025241.3(UBXN6):c.853C>A (p.Gln285Lys)	CHAF1A, UBXN6 (Q285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185925	NM_025241.3(UBXN6):c.802G>A (p.Ala268Thr)	CHAF1A, UBXN6 (A215T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512709	NM_025241.3(UBXN6):c.799C>T (p.Arg267Cys)	CHAF1A, UBXN6 (R267C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185924	NM_025241.3(UBXN6):c.788C>T (p.Ala263Val)	CHAF1A, UBXN6 (A210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240401	NM_025241.3(UBXN6):c.769A>G (p.Lys257Glu)	CHAF1A, UBXN6 (K204E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467676	NM_025241.3(UBXN6):c.737C>G (p.Thr246Ser)	CHAF1A, UBXN6 (T193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303259	NM_025241.3(UBXN6):c.734C>G (p.Thr245Ser)	CHAF1A, UBXN6 (T192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373265	NM_025241.3(UBXN6):c.662T>C (p.Ile221Thr)	CHAF1A, UBXN6 (I168T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649036	NM_025241.3(UBXN6):c.645C>T (p.His215=)	CHAF1A, UBXN6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306974	NM_025241.3(UBXN6):c.619C>T (p.Arg207Cys)	CHAF1A, UBXN6 (R207C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185923	NM_025241.3(UBXN6):c.617A>G (p.Glu206Gly)	CHAF1A, UBXN6 (E206G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397973	NM_025241.3(UBXN6):c.574G>A (p.Glu192Lys)	CHAF1A, UBXN6 (E139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454285	NM_025241.3(UBXN6):c.568G>A (p.Glu190Lys)	CHAF1A, UBXN6 (E137K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517412	NM_025241.3(UBXN6):c.564C>A (p.His188Gln)	CHAF1A, UBXN6 (H135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351670	NM_025241.3(UBXN6):c.559C>G (p.Leu187Val)	CHAF1A, UBXN6 (L187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392511	NM_025241.3(UBXN6):c.488C>T (p.Thr163Met)	CHAF1A, UBXN6 (T110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341312	NM_025241.3(UBXN6):c.361G>A (p.Val121Met)	UBXN6 (V121M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219228	NM_025241.3(UBXN6):c.320A>G (p.Glu107Gly)	UBXN6 (E54G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349354	NM_025241.3(UBXN6):c.305C>G (p.Thr102Ser)	UBXN6 (T102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391531	NM_025241.3(UBXN6):c.283G>A (p.Gly95Arg)	UBXN6 (G95R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609784	NM_025241.3(UBXN6):c.259C>T (p.Leu87Phe)	UBXN6 (L34F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462429	NM_025241.3(UBXN6):c.224C>T (p.Ser75Leu)	UBXN6 (S75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325001	NM_025241.3(UBXN6):c.205C>T (p.Arg69Trp)	UBXN6 (R69W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617206	NM_025241.3(UBXN6):c.172G>A (p.Ala58Thr)	UBXN6 (A58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597870	NM_025241.3(UBXN6):c.134G>A (p.Arg45His)	UBXN6 (R45H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371259	NM_025241.3(UBXN6):c.119C>T (p.Ala40Val)	UBXN6 (A40V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399362	NM_025241.3(UBXN6):c.58G>A (p.Gly20Ser)	LOC130063210, UBXN6 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062397	GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	CHAF1A, DPP9 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 66