ClinVar for Gene (Select 55236) - ClinVar

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Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330495	NM_018227.6(UBA6):c.148G>A (p.Val50Ile)	UBA6 (V50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330494	NM_018227.6(UBA6):c.1960T>A (p.Ser654Thr)	UBA6 (S654T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330493	NM_018227.6(UBA6):c.516C>A (p.Asp172Glu)	UBA6 (D172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330492	NM_018227.6(UBA6):c.704A>G (p.His235Arg)	UBA6 (H235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330491	NM_018227.6(UBA6):c.2012A>G (p.Gln671Arg)	UBA6 (Q671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330490	NM_018227.6(UBA6):c.1924A>G (p.Arg642Gly)	UBA6 (R642G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330489	NM_018227.6(UBA6):c.1645A>G (p.Thr549Ala)	UBA6 (T549A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330488	NM_018227.6(UBA6):c.1045C>G (p.Gln349Glu)	UBA6 (Q349E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185396	NM_018227.6(UBA6):c.96G>A (p.Met32Ile)	UBA6 (M32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185394	NM_018227.6(UBA6):c.812T>G (p.Phe271Cys)	UBA6 (F271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185393	NM_018227.6(UBA6):c.741T>G (p.Phe247Leu)	UBA6 (F247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185392	NM_018227.6(UBA6):c.659A>G (p.Asn220Ser)	UBA6 (N220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185391	NM_018227.6(UBA6):c.613G>A (p.Val205Ile)	UBA6 (V205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185390	NM_018227.6(UBA6):c.597C>A (p.Phe199Leu)	UBA6 (F199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185389	NM_018227.6(UBA6):c.3136T>C (p.Tyr1046His)	UBA6 (Y1046H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185388	NM_018227.6(UBA6):c.2996C>T (p.Pro999Leu)	UBA6 (P999L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185387	NM_018227.6(UBA6):c.2936A>G (p.Tyr979Cys)	UBA6 (Y979C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185386	NM_018227.6(UBA6):c.2882A>G (p.His961Arg)	UBA6 (H961R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185385	NM_018227.6(UBA6):c.2471C>T (p.Ala824Val)	UBA6 (A824V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185384	NM_018227.6(UBA6):c.2420C>T (p.Thr807Ile)	UBA6 (T807I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185383	NM_018227.6(UBA6):c.2396A>G (p.Asn799Ser)	UBA6 (N799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185382	NM_018227.6(UBA6):c.2261A>C (p.His754Pro)	UBA6 (H754P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185381	NM_018227.6(UBA6):c.2024G>T (p.Ser675Ile)	UBA6 (S675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185380	NM_018227.6(UBA6):c.1120G>A (p.Asp374Asn)	UBA6 (D374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062753	GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3	CENPC, EPHA5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2654781	NM_018227.6(UBA6):c.513T>C (p.Asn171=)	UBA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654780	NM_018227.6(UBA6):c.1624C>T (p.Leu542=)	UBA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604928	NM_018227.6(UBA6):c.743G>A (p.Arg248Gln)	UBA6 (R248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596738	NM_018227.6(UBA6):c.151C>A (p.Leu51Ile)	UBA6 (L51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595598	NM_018227.6(UBA6):c.100A>G (p.Thr34Ala)	UBA6 (T34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592577	NM_018227.6(UBA6):c.5A>T (p.Glu2Val)	UBA6 (E2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560256	NM_018227.6(UBA6):c.1837A>G (p.Ser613Gly)	UBA6 (S613G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557462	NM_018227.6(UBA6):c.1940G>T (p.Ser647Ile)	UBA6 (S647I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548498	NM_018227.6(UBA6):c.50G>C (p.Cys17Ser)	UBA6 (C17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539301	NM_018227.6(UBA6):c.2255C>A (p.Pro752His)	UBA6 (P752H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531386	NM_018227.6(UBA6):c.1286G>A (p.Gly429Asp)	UBA6 (G429D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512832	NM_018227.6(UBA6):c.2180G>A (p.Arg727Gln)	UBA6 (R727Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512650	NM_018227.6(UBA6):c.2192G>A (p.Gly731Asp)	UBA6 (G731D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492342	NM_018227.6(UBA6):c.3064G>T (p.Val1022Leu)	UBA6 (V1022L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491856	NM_018227.6(UBA6):c.2389C>T (p.Pro797Ser)	UBA6 (P797S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478010	NM_018227.6(UBA6):c.2835A>C (p.Lys945Asn)	UBA6 (K945N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469487	NM_018227.6(UBA6):c.554G>A (p.Ser185Asn)	UBA6 (S185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399783	NM_018227.6(UBA6):c.1817A>G (p.His606Arg)	UBA6 (H606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395753	NM_018227.6(UBA6):c.2813C>G (p.Thr938Arg)	UBA6 (T938R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381001	NM_018227.6(UBA6):c.426C>A (p.Phe142Leu)	UBA6 (F142L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374374	NM_018227.6(UBA6):c.2036T>C (p.Leu679Ser)	UBA6 (L679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370837	NM_018227.6(UBA6):c.2058A>G (p.Ile686Met)	UBA6 (I686M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365788	NM_018227.6(UBA6):c.929A>G (p.Lys310Arg)	UBA6 (K310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364570	NM_018227.6(UBA6):c.1852C>G (p.Pro618Ala)	UBA6 (P618A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353414	NM_018227.6(UBA6):c.439G>A (p.Asp147Asn)	UBA6 (D147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347005	NM_018227.6(UBA6):c.2641T>A (p.Phe881Ile)	UBA6 (F881I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346367	NM_018227.6(UBA6):c.814A>G (p.Ser272Gly)	UBA6 (S272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340698	NM_018227.6(UBA6):c.1538G>A (p.Arg513His)	UBA6 (R513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319853	NM_018227.6(UBA6):c.3044C>A (p.Pro1015His)	UBA6 (P1015H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317996	NM_018227.6(UBA6):c.2612A>G (p.Lys871Arg)	UBA6 (K871R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316266	NM_018227.6(UBA6):c.1901T>C (p.Ile634Thr)	UBA6 (I634T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302800	NM_018227.6(UBA6):c.2750C>G (p.Pro917Arg)	UBA6 (P917R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298313	NM_018227.6(UBA6):c.1571C>G (p.Thr524Ser)	UBA6 (T524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289655	NM_018227.6(UBA6):c.1685A>G (p.Asp562Gly)	UBA6 (D562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259313	NM_018227.6(UBA6):c.1106C>T (p.Pro369Leu)	UBA6 (P369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237837	NM_018227.6(UBA6):c.32A>T (p.Gln11Leu)	UBA6 (Q11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224999	NM_018227.6(UBA6):c.1537C>T (p.Arg513Cys)	UBA6 (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221868	NM_018227.6(UBA6):c.2278A>C (p.Asn760His)	UBA6 (N760H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204307	NM_018227.6(UBA6):c.3104A>G (p.Asp1035Gly)	UBA6 (D1035G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808557	GRCh37/hg19 4q13.2(chr4:68485743-69138293)x3	GNRHR, TMPRSS11A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808115	GRCh37/hg19 4q13.1-13.2(chr4:66215872-68647080)x1	CENPC, EPHA5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1807937	GRCh37/hg19 4q13.2(chr4:67729321-68949586)x3	CENPC, GNRHR +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527092	GRCh37/hg19 4q13.2(chr4:68272006-68923410)	CENPC, GNRHR +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527091	GRCh37/hg19 4q13.2(chr4:67997060-69198391)	CENPC, GNRHR +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 714617	NM_018227.6(UBA6):c.72-13dup	UBA6	Duplication (intron variant)	not provided	GBenign
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 635941	Single allele	TMPRSS11D, CENPC +6 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562922	GRCh37/hg19 4q13.1-13.2(chr4:65395609-69170853)x1	UBA6, TMPRSS11B +7 more	Copy number loss	not provided	GUncertain significance
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 395561	GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3	CENPC, GNRHR +7 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 221437	GRCh37/hg19 4q13.2(chr4:68488897-68562395)x3	UBA6	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 92