HEPH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +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 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	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 153045	GRCh38/hg38 Xq12(chrX:65901792-66733457)x2	EDA2R, HEPH +17 more	Copy number gain	See cases	GUncertain significance
Select item 150145	GRCh38/hg38 Xq12(chrX:66049830-66301774)x1	HEPH, LOC113875035	Copy number loss	See cases	GLikely benign
Select item 155669	GRCh38/hg38 Xq12(chrX:66069949-67124285)x2	EDA2R, HEPH +7 more	Copy number gain	See cases	GUncertain significance
Select item 149006	GRCh38/hg38 Xq12(chrX:66077618-67113715)x3	EDA2R, HEPH +7 more	Copy number gain	See cases	GUncertain significance
Select item 2311900	NM_138737.6(HEPH):c.-135A>T	HEPH	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2458125	NM_001367233.3(HEPH):c.-13A>C	HEPH	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3105262	NM_001367233.3(HEPH):c.37A>G (p.Met13Val)	HEPH (M13V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3105268	NM_001367233.3(HEPH):c.98G>A (p.Arg33Gln)	HEPH (R33Q)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3105269	NM_001367233.3(HEPH):c.103G>A (p.Val35Met)	HEPH (V35M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3105270	NM_001367233.3(HEPH):c.141C>G (p.Ile47Met)	HEPH (I47M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3105271	NM_001367233.3(HEPH):c.166A>G (p.Ile56Val)	HEPH (I56V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2541313	NM_001367233.3(HEPH):c.202C>T (p.Arg68Trp)	HEPH (R68W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105275	NM_001367233.3(HEPH):c.262G>T (p.Asp88Tyr)	HEPH (D88Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105276	NM_001367233.3(HEPH):c.467C>T (p.Pro156Leu)	HEPH (P156L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384611	NM_001367233.3(HEPH):c.599T>C (p.Ile200Thr)	HEPH (I200T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525713	NM_001367233.3(HEPH):c.649C>T (p.Pro217Ser)	HEPH (P217S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376752	NM_001367233.3(HEPH):c.671A>G (p.His224Arg)	HEPH (H224R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206117	NM_001367233.3(HEPH):c.692G>C (p.Ser231Thr)	HEPH (S231T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244270	NM_001367233.3(HEPH):c.697G>T (p.Val233Leu)	HEPH (V233L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105278	NM_001367233.3(HEPH):c.758C>A (p.Ala253Asp)	HEPH (A253D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386565	NM_001367233.3(HEPH):c.767A>G (p.Asp256Gly)	HEPH (D256G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364811	NM_001367233.3(HEPH):c.801G>T (p.Arg267Ser)	HEPH (R267S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207610	NM_001367233.3(HEPH):c.856G>A (p.Ala286Thr)	HEPH (A286T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529385	NM_001367233.3(HEPH):c.865C>T (p.Arg289Cys)	HEPH (R22C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559677	NM_001367233.3(HEPH):c.943A>G (p.Thr315Ala)	HEPH (T48A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105257	NM_001367233.3(HEPH):c.1302A>T (p.Glu434Asp)	HEPH (E167D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105258	NM_001367233.3(HEPH):c.1487C>G (p.Thr496Ser)	HEPH (T229S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598688	NM_001367233.3(HEPH):c.1516G>A (p.Gly506Ser)	HEPH (G239S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568926	NM_001367233.3(HEPH):c.1567C>T (p.Pro523Ser)	HEPH (P523S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105259	NM_001367233.3(HEPH):c.1628C>A (p.Ala543Glu)	HEPH (A276E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304802	NM_001367233.3(HEPH):c.1640G>A (p.Arg547Lys)	HEPH (R280K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2232953	NM_001367233.3(HEPH):c.1642G>T (p.Asp548Tyr)	HEPH (D546Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105260	NM_001367233.3(HEPH):c.1691C>T (p.Ala564Val)	HEPH (A562V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773380	NM_001367233.3(HEPH):c.1696G>A (p.Gly566Ser)	HEPH (G299S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2660764	NM_001367233.3(HEPH):c.1702G>C (p.Asp568His)	HEPH (D301H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2237313	NM_001367233.3(HEPH):c.1738C>A (p.Leu580Ile)	HEPH (L313I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105261	NM_001367233.3(HEPH):c.1814G>A (p.Arg605Gln)	HEPH (R338Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601370	NM_001367233.3(HEPH):c.1933C>A (p.His645Asn)	HEPH (H643N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516887	NM_001367233.3(HEPH):c.1972G>A (p.Val658Ile)	HEPH (V391I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481780	NM_001367233.3(HEPH):c.2089A>T (p.Ile697Phe)	HEPH (I695F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214537	NM_001367233.3(HEPH):c.2089A>C (p.Ile697Leu)	HEPH (I430L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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