ITIH6[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 256

<< First< Prev

Page of 3

	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 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1164 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 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068348, LOC130068349 +1164 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 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	SYP, SYP-AS1 +1164 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 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	CLCN4, CLCN5 +1155 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 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	ACE2, ACE2-DT +1131 more	Copy number loss	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 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	LOC130067990, LOC130067991 +1217 more	Copy number loss	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 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PAGE4, PAGE5 +1164 more	Copy number loss	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 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	RBM10, RBM3 +1131 more	Copy number loss	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 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	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 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	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 148338	GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2	ALAS2, APEX2 +93 more	Copy number gain	See cases	GPathogenic
Select item 146617	GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2	ALAS2, APEX2 +92 more	Copy number gain	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 3054524	NM_198510.3(ITIH6):c.3942A>T (p.Ter1314Cys)	ITIH6	Single nucleotide variant (stop lost)	ITIH6-related disorder	GLikely benign
Select item 2481197	NM_198510.3(ITIH6):c.3934G>A (p.Val1312Ile)	ITIH6 (V1312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260701	NM_198510.3(ITIH6):c.3919C>A (p.Pro1307Thr)	ITIH6 (P1307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521075	NM_198510.3(ITIH6):c.3890G>A (p.Arg1297His)	ITIH6 (R1297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286932	NM_198510.3(ITIH6):c.3863G>A (p.Arg1288His)	ITIH6 (R1288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273518	NM_198510.3(ITIH6):c.3842A>G (p.Asp1281Gly)	ITIH6 (D1281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236539	NM_198510.3(ITIH6):c.3818T>C (p.Ile1273Thr)	ITIH6 (I1273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040095	NM_198510.3(ITIH6):c.3791G>A (p.Arg1264Lys)	ITIH6 (R1264K)	Single nucleotide variant (missense variant)	ITIH6-related disorder	GBenign
Select item 2660671	NM_198510.3(ITIH6):c.3744C>T (p.His1248=)	ITIH6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3286930	NM_198510.3(ITIH6):c.3742C>A (p.His1248Asn)	ITIH6 (H1248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613474	NM_198510.3(ITIH6):c.3736T>C (p.Phe1246Leu)	ITIH6 (F1246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490298	NM_198510.3(ITIH6):c.3722G>A (p.Gly1241Asp)	ITIH6 (G1241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219189	NM_198510.3(ITIH6):c.3719G>A (p.Arg1240His)	ITIH6 (R1240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315937	NM_198510.3(ITIH6):c.3706A>G (p.Ser1236Gly)	ITIH6 (S1236G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488111	NM_198510.3(ITIH6):c.3703C>T (p.Leu1235Phe)	ITIH6 (L1235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515584	NM_198510.3(ITIH6):c.3694G>A (p.Gly1232Ser)	ITIH6 (G1232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332042	NM_198510.3(ITIH6):c.3643A>G (p.Arg1215Gly)	ITIH6 (R1215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111647	NM_198510.3(ITIH6):c.3638G>A (p.Arg1213His)	ITIH6 (R1213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660672	NM_198510.3(ITIH6):c.3616G>T (p.Glu1206Ter)	ITIH6 (E1206*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3111645	NM_198510.3(ITIH6):c.3613C>T (p.Leu1205Phe)	ITIH6 (L1205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257898	NM_198510.3(ITIH6):c.3550A>G (p.Arg1184Gly)	ITIH6 (R1184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458673	NM_198510.3(ITIH6):c.3518G>A (p.Arg1173His)	ITIH6 (R1173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111644	NM_198510.3(ITIH6):c.3517C>T (p.Arg1173Cys)	ITIH6 (R1173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475929	NM_198510.3(ITIH6):c.3460G>A (p.Ala1154Thr)	ITIH6 (A1154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300389	NM_198510.3(ITIH6):c.3457C>G (p.Arg1153Gly)	ITIH6 (R1153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111643	NM_198510.3(ITIH6):c.3427C>A (p.Gln1143Lys)	ITIH6 (Q1143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518654	NM_198510.3(ITIH6):c.3418A>G (p.Thr1140Ala)	ITIH6 (T1140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207565	NM_198510.3(ITIH6):c.3413C>T (p.Thr1138Ile)	ITIH6 (T1138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604734	NM_198510.3(ITIH6):c.3409C>A (p.Gln1137Lys)	ITIH6 (Q1137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411088	NM_198510.3(ITIH6):c.3402C>A (p.His1134Gln)	ITIH6 (H1134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111642	NM_198510.3(ITIH6):c.3338A>G (p.Glu1113Gly)	ITIH6 (E1113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592924	NM_198510.3(ITIH6):c.3312C>A (p.His1104Gln)	ITIH6 (H1104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360723	NM_198510.3(ITIH6):c.3289A>T (p.Ile1097Phe)	ITIH6 (I1097F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048952	NM_198510.3(ITIH6):c.3238+2T>C	ITIH6	Single nucleotide variant (splice donor variant)	ITIH6-related disorder	GLikely benign

<< First< Prev

Page of 3