DGAT2L6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	GK, GK-AS1 +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ABCB7, ACE2 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	ABCB7, ACE2 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	MIR1321, MIR1468 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	LOC130068430, LOC130068431 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068386, LOC130068387 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +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	LOC126863296, LOC126863297 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	LOC126863270, LOC126863271 +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	ABCB7, ABCD1 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068371, LOC130068372 +1464 more	Copy number loss	See cases	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	TEX11, TSIX +206 more	Copy number gain	See cases	GPathogenic
Select item 58640	GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	MIR421, MIR545 +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 2493898	NM_198512.3(DGAT2L6):c.107T>C (p.Ile36Thr)	DGAT2L6 (I36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048177	NM_198512.3(DGAT2L6):c.133T>A (p.Phe45Ile)	DGAT2L6 (F45I)	Single nucleotide variant (missense variant)	DGAT2L6-related condition	GLikely benign
Select item 2660803	NM_198512.3(DGAT2L6):c.171C>T (p.Thr57=)	DGAT2L6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052464	NM_198512.3(DGAT2L6):c.174T>C (p.Tyr58=)	DGAT2L6	Single nucleotide variant (synonymous variant)	DGAT2L6-related condition	GLikely benign
Select item 3081820	NM_198512.3(DGAT2L6):c.191G>C (p.Ser64Thr)	DGAT2L6 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467669	NM_198512.3(DGAT2L6):c.205C>T (p.Arg69Cys)	DGAT2L6 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714926	NM_198512.3(DGAT2L6):c.267+8C>T	DGAT2L6	Single nucleotide variant (intron variant)	DGAT2L6-related condition +1 more	GBenign
Select item 2612013	NM_198512.3(DGAT2L6):c.282T>G (p.His94Gln)	DGAT2L6 (H94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595848	NM_198512.3(DGAT2L6):c.283G>A (p.Asp95Asn)	DGAT2L6 (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081821	NM_198512.3(DGAT2L6):c.334C>G (p.Leu112Val)	DGAT2L6 (L112V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3040404	NM_198512.3(DGAT2L6):c.385C>T (p.Arg129Trp)	DGAT2L6 (R129W)	Single nucleotide variant (missense variant)	DGAT2L6-related condition	GLikely benign
Select item 2332759	NM_198512.3(DGAT2L6):c.386G>A (p.Arg129Gln)	DGAT2L6 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807742	NM_198512.3(DGAT2L6):c.472+3G>A	DGAT2L6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3081822	NM_198512.3(DGAT2L6):c.533A>G (p.Asn178Ser)	DGAT2L6 (N178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081823	NM_198512.3(DGAT2L6):c.581G>A (p.Arg194Gln)	DGAT2L6 (R194Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375141	NM_198512.3(DGAT2L6):c.631A>G (p.Met211Val)	DGAT2L6 (M211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319668	NM_198512.3(DGAT2L6):c.677G>A (p.Gly226Asp)	DGAT2L6 (G226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660804	NM_198512.3(DGAT2L6):c.684C>T (p.Asn228=)	DGAT2L6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254999	NM_198512.3(DGAT2L6):c.719C>T (p.Thr240Met)	DGAT2L6 (T240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081824	NM_198512.3(DGAT2L6):c.731T>C (p.Leu244Ser)	DGAT2L6 (L244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402357	NM_198512.3(DGAT2L6):c.731T>G (p.Leu244Trp)	DGAT2L6 (L244W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161853	NM_198512.3(DGAT2L6):c.769C>A (p.Leu257Met)	DGAT2L6 (L257M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3081825	NM_198512.3(DGAT2L6):c.782T>G (p.Phe261Cys)	DGAT2L6 (F261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042676	NM_198512.3(DGAT2L6):c.801G>T (p.Arg267=)	DGAT2L6	Single nucleotide variant (synonymous variant)	DGAT2L6-related condition	GLikely benign
Select item 2612538	NM_198512.3(DGAT2L6):c.814G>A (p.Gly272Arg)	DGAT2L6 (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517994	NM_198512.3(DGAT2L6):c.833C>A (p.Pro278His)	DGAT2L6 (P278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333161	NM_198512.3(DGAT2L6):c.841C>T (p.Arg281Trp)	DGAT2L6 (R281W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256674	NM_198512.3(DGAT2L6):c.842G>A (p.Arg281Gln)	DGAT2L6 (R281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081826	NM_198512.3(DGAT2L6):c.881C>T (p.Pro294Leu)	DGAT2L6 (P294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081827	NM_198512.3(DGAT2L6):c.900C>G (p.Asn300Lys)	DGAT2L6 (N300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377311	NM_198512.3(DGAT2L6):c.906G>T (p.Lys302Asn)	DGAT2L6 (K302N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057381	NM_198512.3(DGAT2L6):c.928C>T (p.Leu310Phe)	DGAT2L6 (L310F)	Single nucleotide variant (missense variant)	DGAT2L6-related condition	GUncertain significance
Select item 3043936	NM_198512.3(DGAT2L6):c.978T>C (p.Tyr326=)	DGAT2L6	Single nucleotide variant (synonymous variant)	DGAT2L6-related condition	GLikely benign
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic

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