IGBP1[gene] - ClinVar - NCBI

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	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 154440	GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1	ARR3, AWAT1 +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 57433	GRCh38/hg38 Xq13.1(chrX:69880987-70415042)x3	ARR3, AWAT1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 155026	GRCh38/hg38 Xq13.1(chrX:69991690-70536572)x2	ARR3, AWAT1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 11573	NM_001551.3(IGBP1):c.-57_-55delinsAA	IGBP1, LOC130068396	Indel (5 prime UTR variant +1 more)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GPathogenic
Select item 2660802	NM_001551.3(IGBP1):c.-55T>A	IGBP1, LOC130068396	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1299453	NM_001551.3(IGBP1):c.5C>G (p.Ala2Gly)	IGBP1, LOC130068396 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709966	NM_001551.3(IGBP1):c.15C>T (p.Asp5=)	IGBP1, LOC130068396	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1337237	NM_001551.3(IGBP1):c.27G>T (p.Leu9=)	IGBP1, LOC130068396	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1027939	NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala)	IGBP1, LOC130068396 (P13A)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 2535119	NM_001551.3(IGBP1):c.95C>A (p.Pro32His)	IGBP1, LOC130068396 (P32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785703	NM_001551.3(IGBP1):c.99C>T (p.Ala33=)	IGBP1, LOC130068396	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2432811	NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)	IGBP1 (T89I)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 723639	NM_001551.3(IGBP1):c.303T>C (p.His101=)	IGBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 93780	NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln)	IGBP1 (R106Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2482509	NM_001551.3(IGBP1):c.323A>G (p.His108Arg)	IGBP1 (H108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228017	NM_001551.3(IGBP1):c.354C>G (p.Cys118Trp)	IGBP1 (C118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632140	NM_001551.3(IGBP1):c.380C>T (p.Pro127Leu)	IGBP1 (P127L)	Single nucleotide variant (missense variant)	IGBP1-related disorder	GUncertain significance
Select item 3285469	NM_001551.3(IGBP1):c.410A>T (p.His137Leu)	IGBP1 (H137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206318	NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)	IGBP1 (V179A)	Single nucleotide variant (missense variant +1 more)	IGBP1-related disorder +1 more	GUncertain significance
Select item 3108479	NM_001551.3(IGBP1):c.554A>G (p.Asp185Gly)	IGBP1 (D185G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285470	NM_001551.3(IGBP1):c.561G>C (p.Glu187Asp)	IGBP1 (E187D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220995	NM_001551.3(IGBP1):c.578A>G (p.Tyr193Cys)	IGBP1 (Y193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730942	NM_001551.3(IGBP1):c.597G>A (p.Arg199=)	IGBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 499182	NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr)	IGBP1 (I203T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2470994	NM_001551.3(IGBP1):c.700C>T (p.Arg234Cys)	IGBP1 (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 435495	NM_001551.3(IGBP1):c.715C>T (p.Pro239Ser)	IGBP1 (P239S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636981	NM_001551.3(IGBP1):c.718G>C (p.Val240Leu)	IGBP1 (V240L)	Single nucleotide variant (missense variant +1 more)	IGBP1-related disorder	GUncertain significance
Select item 1257271	NM_001551.3(IGBP1):c.758+163T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262781	NM_001551.3(IGBP1):c.758+279T>G	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3108480	NM_001551.3(IGBP1):c.790A>G (p.Thr264Ala)	IGBP1 (T264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432812	NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)	IGBP1 (T174M +1 more)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 747670	NM_001551.3(IGBP1):c.824G>A (p.Arg275Gln)	IGBP1 (R183Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3108481	NM_001551.3(IGBP1):c.842C>T (p.Pro281Leu)	IGBP1 (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274607	NM_001551.3(IGBP1):c.871+159T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247261	NM_001551.3(IGBP1):c.871+212T>G	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262474	NM_001551.3(IGBP1):c.872-208T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435494	NM_001551.3(IGBP1):c.872-4T>G	IGBP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 435496	NM_001551.3(IGBP1):c.872-3T>C	IGBP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance

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