PJA1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 172

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58639	GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2	AMER1, AR +120 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	FTX, GCNA +175 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 60326	GRCh38/hg38 Xq12-13.1(chrX:68441645-69382098)x3	EFNB1, LINC00269 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2660795	NC_000023.11:g.69080923C>T	PJA1	Single nucleotide variant	not provided	GLikely benign
Select item 3213392	NM_001032396.4(PJA1):c.1760C>T (p.Pro587Leu)	PJA1 (P454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711680	NM_001032396.4(PJA1):c.1752C>G (p.Phe584Leu)	PJA1 (F584L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2411517	NM_001032396.4(PJA1):c.1642G>A (p.Val548Met)	PJA1 (V548M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213391	NM_001032396.4(PJA1):c.1597G>A (p.Ala533Thr)	PJA1 (A533T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306971	NM_001032396.4(PJA1):c.1556T>C (p.Ile519Thr)	PJA1 (I519T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274144	NM_001032396.4(PJA1):c.1510G>A (p.Ala504Thr)	PJA1 (A371T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309157	NM_001032396.4(PJA1):c.1493C>A (p.Ala498Glu)	PJA1 (A498E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347291	NM_001032396.4(PJA1):c.1469C>A (p.Ala490Asp)	PJA1 (A357D +2 more)	Single nucleotide variant (missense variant)	PJA1-related disorder	GUncertain significance
Select item 3213390	NM_001032396.4(PJA1):c.1322A>G (p.Asn441Ser)	PJA1 (N441S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339829	NM_001032396.4(PJA1):c.1277A>G (p.His426Arg)	PJA1 (H426R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660796	NM_001032396.4(PJA1):c.1260G>A (p.Gly420=)	PJA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213389	NM_001032396.4(PJA1):c.1149C>A (p.Ser383Arg)	PJA1 (S250R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341491	NM_001032396.4(PJA1):c.1145G>C (p.Gly382Ala)	PJA1 (G249A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773381	NM_001032396.4(PJA1):c.1120G>A (p.Ala374Thr)	PJA1 (A241T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2660797	NM_001032396.4(PJA1):c.1110C>T (p.Ala370=)	PJA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213387	NM_001032396.4(PJA1):c.1103C>T (p.Ala368Val)	PJA1 (A423V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213386	NM_001032396.4(PJA1):c.1085C>T (p.Pro362Leu)	PJA1 (P229L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511366	NM_001032396.4(PJA1):c.1075G>A (p.Gly359Ser)	PJA1 (G414S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317176	NM_001032396.4(PJA1):c.1000A>G (p.Ser334Gly)	PJA1 (S334G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706481	NM_001032396.4(PJA1):c.961C>T (p.Arg321Cys)	PJA1 (R376C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306781	NM_001032396.4(PJA1):c.917G>A (p.Cys306Tyr)	PJA1 (C306Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508404	NM_001032396.4(PJA1):c.878C>A (p.Pro293His)	PJA1 (P348H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314727	NM_001032396.4(PJA1):c.865A>G (p.Thr289Ala)	PJA1 (T344A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259403	NM_001032396.4(PJA1):c.863G>A (p.Arg288His)	PJA1 (R288H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621608	NM_001032396.4(PJA1):c.640G>A (p.Val214Met)	PJA1 (V269M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306782	NM_001032396.4(PJA1):c.595C>A (p.Pro199Thr)	PJA1 (P254T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333029	NM_001032396.4(PJA1):c.532C>T (p.Pro178Ser)	PJA1 (P178S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284314	NM_001032396.4(PJA1):c.500G>C (p.Arg167Thr)	PJA1 (R222T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304871	NM_001032396.4(PJA1):c.413G>A (p.Ser138Asn)	PJA1 (S138N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306780	NM_001032396.4(PJA1):c.388G>T (p.Val130Phe)	PJA1 (V185F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204632	NM_001032396.4(PJA1):c.371G>A (p.Arg124Gln)	PJA1 (R124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306783	NM_001032396.4(PJA1):c.353G>A (p.Arg118His)	PJA1 (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3213396	NM_001032396.4(PJA1):c.341C>G (p.Ser114Cys)	PJA1 (S114C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721893	NM_001032396.4(PJA1):c.251T>C (p.Val84Ala)	PJA1 (V84A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2217223	NM_001032396.4(PJA1):c.144G>C (p.Glu48Asp)	PJA1 (E48D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213394	NM_001032396.4(PJA1):c.132T>C (p.Tyr44=)	PJA1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign

<< First< Prev

Page of 2