ClinVar for Gene (Select 9843) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3284026	NM_001367233.3(HEPH):c.3083C>T (p.Thr1028Ile)	HEPH (T761I +6 more)	Single nucleotide variant (missense variant +1 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 3284024	NM_001367233.3(HEPH):c.2248C>T (p.Arg750Trp)	HEPH (R750W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284023	NM_001367233.3(HEPH):c.1715A>G (p.Lys572Arg)	HEPH (K570R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3284022	NM_001367233.3(HEPH):c.2177G>A (p.Arg726His)	HEPH (R726H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3284021	NM_001367233.3(HEPH):c.2182C>T (p.Arg728Cys)	HEPH (R726C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284020	NM_001367233.3(HEPH):c.3089A>C (p.Glu1030Ala)	HEPH (E763A +6 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 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 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 3256843	NM_138737.6(HEPH):c.-47T>C	HEPH	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 3256830	NM_001367233.3(HEPH):c.2379A>G (p.Thr793=)	HEPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3256827	NM_001367233.3(HEPH):c.2295T>C (p.Tyr765=)	HEPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3256823	NM_001367233.3(HEPH):c.168-16T>C	HEPH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3256805	NM_001367233.3(HEPH):c.2077+15A>G	HEPH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 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 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 3105274	NM_001367233.3(HEPH):c.3347G>A (p.Ser1116Asn)	HEPH (S1004N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105273	NM_001367233.3(HEPH):c.3242A>T (p.Lys1081Ile)	HEPH (K1081I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105272	NM_001367233.3(HEPH):c.3150C>G (p.Asp1050Glu)	HEPH (D747E +6 more)	Single nucleotide variant (missense variant +1 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 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 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 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 3105267	NM_001367233.3(HEPH):c.2324G>A (p.Gly775Glu)	HEPH (G773E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105266	NM_001367233.3(HEPH):c.2269C>A (p.His757Asn)	HEPH (H565N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105265	NM_001367233.3(HEPH):c.2268G>C (p.Trp756Cys)	HEPH (W685C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105264	NM_001367233.3(HEPH):c.2216C>G (p.Ala739Gly)	HEPH (A737G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105263	NM_001367233.3(HEPH):c.2161C>T (p.His721Tyr)	HEPH (H529Y +4 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3025742	NM_001367233.3(HEPH):c.2261G>A (p.Arg754Gln)	HEPH (R487Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660766	NM_001367233.3(HEPH):c.3441G>T (p.Leu1147=)	HEPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660765	NM_001367233.3(HEPH):c.2938A>G (p.Met980Val)	HEPH (M677V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2473259	NM_001367233.3(HEPH):c.2536A>G (p.Thr846Ala)	HEPH (T654A +4 more)	Single nucleotide variant (missense variant +1 more)	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 2400245	NM_001367233.3(HEPH):c.2374G>A (p.Gly792Ser)	HEPH (G790S +4 more)	Single nucleotide variant (missense variant +1 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 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 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 2365528	NM_001367233.3(HEPH):c.3053G>A (p.Arg1018Gln)	HEPH (R715Q +6 more)	Single nucleotide variant (missense variant +1 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 2324466	NM_001367233.3(HEPH):c.3367G>T (p.Val1123Phe)	HEPH (V1012F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315948	NM_001367233.3(HEPH):c.2461A>T (p.Ile821Phe)	HEPH (I554F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2303062	NM_001367233.3(HEPH):c.3064G>A (p.Val1022Met)	HEPH (V951M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263806	NM_001367233.3(HEPH):c.2623T>A (p.Ser875Thr)	HEPH (S608T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259602	NM_001367233.3(HEPH):c.2215G>T (p.Ala739Ser)	HEPH (A668S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258695	NM_001367233.3(HEPH):c.2288A>G (p.Asp763Gly)	HEPH (D692G +4 more)	Single nucleotide variant (missense variant +1 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 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 2234800	NM_001367233.3(HEPH):c.2092T>C (p.Tyr698His)	HEPH (Y431H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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
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 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 1808042	GRCh37/hg19 Xq12(chrX:65390324-66050320)x2	EDA2R, HEPH	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526806	GRCh37/hg19 Xq12(chrX:65057519-66020568)	EDA2R, HEPH +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979824	GRCh37/hg19 Xq12(chrX:65255929-65894285)x3	EDA2R, VSIG4 +1 more	Copy number gain	not provided	GLikely benign
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 709010	NM_001367233.3(HEPH):c.2108G>A (p.Ser703Asn)	HEPH (S436N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 689241	GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1	AMER1, AR +19 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic

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