ClinVar for Gene (Select 2028) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338179	NM_001977.4(ENPEP):c.2671C>T (p.Arg891Ter)	ENPEP (R816* +1 more)	Single nucleotide variant (nonsense +1 more)	Autism	GUncertain significance
Select item 3275469	NM_001977.4(ENPEP):c.2672G>T (p.Arg891Leu)	ENPEP (R816L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275468	NM_001977.4(ENPEP):c.409C>T (p.Arg137Trp)	ENPEP (R137W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275467	NM_001977.4(ENPEP):c.2462A>G (p.Tyr821Cys)	ENPEP (Y746C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275466	NM_001977.4(ENPEP):c.1985C>T (p.Ala662Val)	ENPEP (A662V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275465	NM_001977.4(ENPEP):c.1645G>A (p.Val549Met)	ENPEP (V549M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	GUncertain significance
Select item 3088963	NM_001977.4(ENPEP):c.785C>T (p.Ala262Val)	ENPEP (A262V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088962	NM_001977.4(ENPEP):c.773A>G (p.Asn258Ser)	ENPEP (N258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088961	NM_001977.4(ENPEP):c.569T>C (p.Met190Thr)	ENPEP (M190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088960	NM_001977.4(ENPEP):c.418A>G (p.Arg140Gly)	ENPEP (R140G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088959	NM_001977.4(ENPEP):c.37T>G (p.Cys13Gly)	ENPEP (C13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088958	NM_001977.4(ENPEP):c.283G>T (p.Asp95Tyr)	ENPEP (D95Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088957	NM_001977.4(ENPEP):c.2423A>G (p.Gln808Arg)	ENPEP (Q733R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088956	NM_001977.4(ENPEP):c.2324C>A (p.Thr775Asn)	ENPEP (T700N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088955	NM_001977.4(ENPEP):c.2287A>G (p.Asn763Asp)	ENPEP (N688D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088954	NM_001977.4(ENPEP):c.2047C>A (p.Leu683Ile)	ENPEP (L683I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088953	NM_001977.4(ENPEP):c.1964G>A (p.Arg655His)	ENPEP (R655H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088952	NM_001977.4(ENPEP):c.1882C>T (p.Arg628Cys)	ENPEP (R628C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088951	NM_001977.4(ENPEP):c.1810A>G (p.Ile604Val)	ENPEP (I604V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088950	NM_001977.4(ENPEP):c.1792A>G (p.Arg598Gly)	ENPEP (R598G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088949	NM_001977.4(ENPEP):c.1743C>G (p.Ile581Met)	ENPEP (I581M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088948	NM_001977.4(ENPEP):c.1675C>A (p.Arg559Ser)	ENPEP (R559S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088947	NM_001977.4(ENPEP):c.1614G>T (p.Trp538Cys)	ENPEP (W538C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088946	NM_001977.4(ENPEP):c.1448C>A (p.Ser483Tyr)	ENPEP (S483Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088945	NM_001977.4(ENPEP):c.1421T>C (p.Phe474Ser)	ENPEP (F474S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088944	NM_001977.4(ENPEP):c.140G>A (p.Gly47Glu)	ENPEP (G47E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088943	NM_001977.4(ENPEP):c.1399C>T (p.Pro467Ser)	ENPEP (P467S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088942	NM_001977.4(ENPEP):c.1273C>G (p.Leu425Val)	ENPEP (L425V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088941	NM_001977.4(ENPEP):c.1013C>T (p.Ala338Val)	ENPEP (A338V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2619174	NM_001977.4(ENPEP):c.89G>A (p.Gly30Glu)	ENPEP (G30E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608097	NM_001977.4(ENPEP):c.2654A>G (p.Asn885Ser)	ENPEP (N885S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604722	NM_001977.4(ENPEP):c.2543A>G (p.Gln848Arg)	ENPEP (Q848R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597544	NM_001977.4(ENPEP):c.640G>A (p.Val214Ile)	ENPEP (V214I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2551654	NM_001977.4(ENPEP):c.1775G>A (p.Ser592Asn)	ENPEP (S592N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536512	NM_001977.4(ENPEP):c.721G>T (p.Ala241Ser)	ENPEP (A241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535850	NM_001977.4(ENPEP):c.2163A>C (p.Gln721His)	ENPEP (Q721H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533904	NM_001977.4(ENPEP):c.1190A>C (p.His397Pro)	ENPEP (H397P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507544	NM_001977.4(ENPEP):c.214G>A (p.Ala72Thr)	ENPEP (A72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488899	NM_001977.4(ENPEP):c.2635G>A (p.Val879Ile)	ENPEP (V804I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486926	NM_001977.4(ENPEP):c.2119G>C (p.Glu707Gln)	ENPEP (E707Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484023	NM_001977.4(ENPEP):c.1180G>A (p.Glu394Lys)	ENPEP (E394K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482504	NM_001977.4(ENPEP):c.2620A>C (p.Asn874His)	ENPEP (N874H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479056	NM_001977.4(ENPEP):c.596C>T (p.Ser199Phe)	ENPEP (S199F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458352	NM_001977.4(ENPEP):c.2847G>T (p.Trp949Cys)	ENPEP (W874C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408030	NM_001977.4(ENPEP):c.1650C>A (p.Asn550Lys)	ENPEP (N550K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406332	NM_001977.4(ENPEP):c.2627A>T (p.Asp876Val)	ENPEP (D801V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404386	NM_001977.4(ENPEP):c.2099C>A (p.Thr700Asn)	ENPEP (T700N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380281	NM_001977.4(ENPEP):c.505G>A (p.Val169Met)	ENPEP (V169M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369634	NM_001977.4(ENPEP):c.958G>A (p.Glu320Lys)	ENPEP (E320K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369601	NM_001977.4(ENPEP):c.1985C>A (p.Ala662Asp)	ENPEP (A662D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362605	NM_001977.4(ENPEP):c.1099T>C (p.Tyr367His)	ENPEP (Y367H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351262	NM_001977.4(ENPEP):c.725C>T (p.Thr242Ile)	ENPEP (T242I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349882	NM_001977.4(ENPEP):c.1675C>T (p.Arg559Cys)	ENPEP (R559C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349342	NM_001977.4(ENPEP):c.427C>T (p.Arg143Trp)	ENPEP (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321486	NM_001977.4(ENPEP):c.698G>C (p.Cys233Ser)	ENPEP (C233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309684	NM_001977.4(ENPEP):c.948G>T (p.Lys316Asn)	ENPEP (K316N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302525	NM_001977.4(ENPEP):c.1249G>C (p.Gly417Arg)	ENPEP (G417R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302523	NM_001977.4(ENPEP):c.1232A>C (p.Asp411Ala)	ENPEP (D411A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300666	NM_001977.4(ENPEP):c.871G>C (p.Val291Leu)	ENPEP (V291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268892	NM_001977.4(ENPEP):c.2095G>A (p.Val699Ile)	ENPEP (V699I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2256968	NM_001977.4(ENPEP):c.495G>C (p.Lys165Asn)	ENPEP (K165N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249742	NM_001977.4(ENPEP):c.2309A>G (p.Gln770Arg)	ENPEP (Q695R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218472	NM_001977.4(ENPEP):c.851C>T (p.Thr284Met)	ENPEP (T284M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216827	NM_001977.4(ENPEP):c.103C>T (p.Leu35Phe)	ENPEP (L35F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980126	GRCh37/hg19 4q25(chr4:111334313-113223858)x1	FAM241A, TIFA +4 more	Copy number loss	not provided	GPathogenic
Select item 780492	NM_001977.4(ENPEP):c.1194G>A (p.Gln398=)	ENPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780491	NM_001977.4(ENPEP):c.108C>T (p.Ala36=)	ENPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780490	NM_001977.4(ENPEP):c.94A>G (p.Ile32Val)	ENPEP (I32V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776010	NM_001977.4(ENPEP):c.1631A>T (p.Tyr544Phe)	ENPEP (Y544F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767971	NM_001977.4(ENPEP):c.2583C>A (p.Ser861Arg)	ENPEP (S861R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 375444	GRCh37/hg19 4q25(chr4:111528916-111888401)x1	ENPEP, PITX2	Copy number loss	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 82