HEPH[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 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 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 3256843	NM_138737.6(HEPH):c.-47T>C	HEPH	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
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 3256823	NM_001367233.3(HEPH):c.168-16T>C	HEPH	Single nucleotide variant (intron variant)	not specified	GBenign
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 3284025	NM_001367233.3(HEPH):c.678C>A (p.Phe226Leu)	HEPH (F226L)	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 3284018	NM_001367233.3(HEPH):c.1139G>A (p.Arg380Gln)	HEPH (R113Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284019	NM_001367233.3(HEPH):c.1241A>G (p.Asp414Gly)	HEPH (D147G +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 3284017	NM_001367233.3(HEPH):c.1553G>A (p.Arg518His)	HEPH (R518H +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

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