MTMR8[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 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 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 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 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 58638	GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2	AMER1, ARHGEF9 +65 more	Copy number gain	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 10706	NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del	AMER1, ARHGEF9 +36 more	Deletion	Osteopathia striata with cranial sclerosis	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 57007	GRCh38/hg38 Xq11.1-11.2(chrX:63514988-64270642)x3	AMER1, ARHGEF9 +11 more	Copy number gain	See cases	GUncertain significance
Select item 60319	GRCh38/hg38 Xq11.2(chrX:64145374-64905930)x3	AMER1, ASB12 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3037512	NM_017677.4(MTMR8):c.2008T>A (p.Leu670Met)	MTMR8 (L670M)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3038272	NM_017677.4(MTMR8):c.2007C>A (p.Asn669Lys)	MTMR8 (N669K)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3296730	NM_017677.4(MTMR8):c.2003G>A (p.Gly668Glu)	MTMR8 (G668E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810416	NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)	MTMR8 (D651N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296731	NM_017677.4(MTMR8):c.1918A>G (p.Met640Val)	MTMR8 (M640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520589	NM_017677.4(MTMR8):c.1888A>C (p.Ile630Leu)	MTMR8 (I630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660750	NM_017677.4(MTMR8):c.1849G>C (p.Gly617Arg)	MTMR8 (G617R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3044383	NM_017677.4(MTMR8):c.1844T>C (p.Ile615Thr)	MTMR8 (I615T)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3216707	NM_017677.4(MTMR8):c.1834T>G (p.Cys612Gly)	MTMR8 (C612G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660751	NM_017677.4(MTMR8):c.1816G>A (p.Ala606Thr)	MTMR8 (A606T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2332947	NM_017677.4(MTMR8):c.1793T>C (p.Met598Thr)	MTMR8 (M598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262481	NM_017677.4(MTMR8):c.1787C>T (p.Ala596Val)	MTMR8 (A596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295401	NM_017677.4(MTMR8):c.1693C>T (p.Pro565Ser)	MTMR8 (P565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216692	NM_017677.4(MTMR8):c.1685T>G (p.Leu562Arg)	MTMR8 (L562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532229	NM_017677.4(MTMR8):c.1646G>A (p.Cys549Tyr)	MTMR8 (C549Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391162	NM_017677.4(MTMR8):c.1622G>A (p.Arg541His)	MTMR8 (R541H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614628	NM_017677.4(MTMR8):c.1600C>G (p.Leu534Val)	MTMR8 (L534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039134	NM_017677.4(MTMR8):c.1521G>A (p.Leu507=)	MTMR8	Single nucleotide variant (synonymous variant)	MTMR8-related disorder	GLikely benign
Select item 91997	NM_017677.4(MTMR8):c.1493G>A (p.Gly498Glu)	MTMR8 (G498E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3216676	NM_017677.4(MTMR8):c.1395G>T (p.Gln465His)	MTMR8 (Q465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368570	NM_017677.4(MTMR8):c.1381C>T (p.Pro461Ser)	MTMR8 (P461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296733	NM_017677.4(MTMR8):c.1367C>T (p.Thr456Ile)	MTMR8 (T456I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384702	NM_017677.4(MTMR8):c.1340G>A (p.Arg447Gln)	MTMR8 (R447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593829	NM_017677.4(MTMR8):c.1208T>C (p.Leu403Pro)	MTMR8 (L403P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247121	NM_017677.4(MTMR8):c.1142T>C (p.Phe381Ser)	MTMR8 (F381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296727	NM_017677.4(MTMR8):c.1082G>A (p.Arg361Lys)	MTMR8 (R361K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057266	NM_017677.4(MTMR8):c.1065C>T (p.Leu355=)	MTMR8	Single nucleotide variant (synonymous variant)	MTMR8-related disorder	GLikely benign
Select item 2681413	NM_017677.4(MTMR8):c.943del (p.Ala315fs)	MTMR8 (A315fs)	Deletion (frameshift variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2464424	NM_017677.4(MTMR8):c.920C>T (p.Ser307Leu)	MTMR8 (S307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660752	NM_017677.4(MTMR8):c.894T>C (p.Ser298=)	MTMR8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206009	NM_017677.4(MTMR8):c.874T>A (p.Leu292Met)	MTMR8 (L292M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2519652	NM_017677.4(MTMR8):c.839G>A (p.Arg280Gln)	MTMR8 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558614	NM_017677.4(MTMR8):c.836T>C (p.Met279Thr)	MTMR8 (M279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268154	NM_017677.4(MTMR8):c.829C>T (p.His277Tyr)	MTMR8 (H277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216741	NM_017677.4(MTMR8):c.822G>C (p.Glu274Asp)	MTMR8 (E274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261630	NM_017677.4(MTMR8):c.799C>T (p.Arg267Cys)	MTMR8 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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