"Ambry Genetics"[submitter] AND "HEPH"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 63