ClinVar for Gene (Select 85441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250555	NM_001037335.2(HELZ2):c.7251C>T (p.Asp2417=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	CHRNA4, DNAJC5 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, PTK6 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3105221	NM_001037335.2(HELZ2):c.94C>G (p.Leu32Val)	HELZ2 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105220	NM_001037335.2(HELZ2):c.935C>T (p.Thr312Met)	HELZ2 (T312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105219	NM_001037335.2(HELZ2):c.830C>T (p.Pro277Leu)	HELZ2 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105217	NM_001037335.2(HELZ2):c.826C>T (p.Arg276Cys)	HELZ2 (R276C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105216	NM_001037335.2(HELZ2):c.7796C>T (p.Thr2599Met)	HELZ2 (T2599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105215	NM_001037335.2(HELZ2):c.7607G>A (p.Arg2536Gln)	HELZ2 (R1967Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105214	NM_001037335.2(HELZ2):c.7606C>T (p.Arg2536Trp)	HELZ2 (R1967W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105213	NM_001037335.2(HELZ2):c.7483G>A (p.Glu2495Lys)	HELZ2 (E1926K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105212	NM_001037335.2(HELZ2):c.7426G>A (p.Glu2476Lys)	HELZ2 (E2476K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105210	NM_001037335.2(HELZ2):c.7138G>A (p.Ala2380Thr)	HELZ2 (A1811T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105209	NM_001037335.2(HELZ2):c.6884C>G (p.Ser2295Trp)	HELZ2 (S1726W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105208	NM_001037335.2(HELZ2):c.674G>T (p.Arg225Leu)	HELZ2 (R225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105207	NM_001037335.2(HELZ2):c.6640C>T (p.Pro2214Ser)	HELZ2 (P2214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105206	NM_001037335.2(HELZ2):c.662C>T (p.Ala221Val)	HELZ2 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105205	NM_001037335.2(HELZ2):c.6625A>C (p.Lys2209Gln)	HELZ2 (K1640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105204	NM_001037335.2(HELZ2):c.6616C>T (p.Arg2206Cys)	HELZ2 (R1637C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105203	NM_001037335.2(HELZ2):c.659A>G (p.Tyr220Cys)	HELZ2 (Y220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105202	NM_001037335.2(HELZ2):c.6479C>A (p.Ala2160Glu)	HELZ2 (A1591E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105201	NM_001037335.2(HELZ2):c.6421C>T (p.Arg2141Trp)	HELZ2 (R2141W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105200	NM_001037335.2(HELZ2):c.6381G>A (p.Pro2127=)	HELZ2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3105199	NM_001037335.2(HELZ2):c.6380C>G (p.Pro2127Arg)	HELZ2 (P1558R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105198	NM_001037335.2(HELZ2):c.6373C>A (p.Pro2125Thr)	HELZ2 (P1556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105197	NM_001037335.2(HELZ2):c.6304C>T (p.Arg2102Cys)	HELZ2 (R1533C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105196	NM_001037335.2(HELZ2):c.6193C>T (p.Arg2065Trp)	HELZ2 (R2065W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105195	NM_001037335.2(HELZ2):c.616G>A (p.Asp206Asn)	HELZ2 (D206N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105194	NM_001037335.2(HELZ2):c.5991C>G (p.Asn1997Lys)	HELZ2 (N1997K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105193	NM_001037335.2(HELZ2):c.5959T>C (p.Phe1987Leu)	HELZ2 (F1418L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105191	NM_001037335.2(HELZ2):c.5924C>T (p.Ala1975Val)	HELZ2 (A1406V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105189	NM_001037335.2(HELZ2):c.551C>T (p.Thr184Met)	HELZ2 (T184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105188	NM_001037335.2(HELZ2):c.5515C>T (p.Arg1839Cys)	HELZ2 (R1270C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105187	NM_001037335.2(HELZ2):c.5467G>A (p.Val1823Met)	HELZ2 (V1254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105186	NM_001037335.2(HELZ2):c.545G>A (p.Ser182Asn)	HELZ2 (S182N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105185	NM_001037335.2(HELZ2):c.5362C>T (p.Arg1788Trp)	HELZ2 (R1788W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105184	NM_001037335.2(HELZ2):c.46G>A (p.Asp16Asn)	HELZ2 (D16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105183	NM_001037335.2(HELZ2):c.4658G>A (p.Arg1553Gln)	HELZ2 (R1553Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105181	NM_001037335.2(HELZ2):c.4649C>T (p.Thr1550Met)	HELZ2 (T1550M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105180	NM_001037335.2(HELZ2):c.4646T>A (p.Val1549Asp)	HELZ2 (V1549D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105179	NM_001037335.2(HELZ2):c.4621G>A (p.Val1541Met)	HELZ2 (V1541M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105178	NM_001037335.2(HELZ2):c.4606G>A (p.Val1536Met)	HELZ2 (V1536M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105177	NM_001037335.2(HELZ2):c.4540G>A (p.Gly1514Ser)	HELZ2, LOC132090597 (G945S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105176	NM_001037335.2(HELZ2):c.4520A>G (p.Tyr1507Cys)	HELZ2, LOC132090597 (Y1507C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105175	NM_001037335.2(HELZ2):c.4438G>A (p.Asp1480Asn)	HELZ2, LOC132090597 (D911N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105174	NM_001037335.2(HELZ2):c.4427C>T (p.Pro1476Leu)	HELZ2, LOC132090597 (P1476L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105173	NM_001037335.2(HELZ2):c.4360C>T (p.Arg1454Cys)	HELZ2 (R1454C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105172	NM_001037335.2(HELZ2):c.4270C>T (p.Arg1424Cys)	HELZ2 (R1424C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105171	NM_001037335.2(HELZ2):c.4219C>A (p.Leu1407Met)	HELZ2 (L1407M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105169	NM_001037335.2(HELZ2):c.404T>C (p.Val135Ala)	HELZ2 (V135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105168	NM_001037335.2(HELZ2):c.397G>A (p.Gly133Arg)	HELZ2 (G133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105167	NM_001037335.2(HELZ2):c.395A>G (p.Asp132Gly)	HELZ2 (D132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105166	NM_001037335.2(HELZ2):c.3901G>A (p.Gly1301Ser)	HELZ2 (G732S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105165	NM_001037335.2(HELZ2):c.3896T>A (p.Ile1299Asn)	HELZ2 (I1299N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105164	NM_001037335.2(HELZ2):c.3893G>A (p.Arg1298His)	HELZ2 (R729H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105163	NM_001037335.2(HELZ2):c.3836C>T (p.Pro1279Leu)	HELZ2 (P1279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105162	NM_001037335.2(HELZ2):c.3799G>A (p.Val1267Ile)	HELZ2 (V698I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105161	NM_001037335.2(HELZ2):c.3783C>G (p.His1261Gln)	HELZ2 (H1261Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105160	NM_001037335.2(HELZ2):c.3727C>T (p.Arg1243Trp)	HELZ2 (R1243W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105159	NM_001037335.2(HELZ2):c.3686C>T (p.Ala1229Val)	HELZ2 (A1229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105158	NM_001037335.2(HELZ2):c.3680T>C (p.Phe1227Ser)	HELZ2 (F658S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105157	NM_001037335.2(HELZ2):c.3580G>A (p.Val1194Met)	HELZ2 (V1194M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105156	NM_001037335.2(HELZ2):c.3556C>T (p.Arg1186Trp)	HELZ2 (R1186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105155	NM_001037335.2(HELZ2):c.3502G>T (p.Ala1168Ser)	HELZ2 (A1168S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105154	NM_001037335.2(HELZ2):c.3379G>A (p.Glu1127Lys)	HELZ2 (E558K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105153	NM_001037335.2(HELZ2):c.3356G>A (p.Arg1119Gln)	HELZ2 (R550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105152	NM_001037335.2(HELZ2):c.3292G>A (p.Val1098Ile)	HELZ2 (V529I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105151	NM_001037335.2(HELZ2):c.3240C>G (p.Asp1080Glu)	HELZ2 (D1080E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105150	NM_001037335.2(HELZ2):c.3215A>T (p.Asp1072Val)	HELZ2 (D1072V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105149	NM_001037335.2(HELZ2):c.3136G>T (p.Ala1046Ser)	HELZ2 (A1046S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105147	NM_001037335.2(HELZ2):c.3113C>A (p.Ala1038Asp)	HELZ2 (A1038D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105146	NM_001037335.2(HELZ2):c.287T>C (p.Leu96Pro)	HELZ2 (L96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105145	NM_001037335.2(HELZ2):c.2876G>C (p.Arg959Pro)	HELZ2 (R390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105144	NM_001037335.2(HELZ2):c.2812C>T (p.Arg938Trp)	HELZ2 (R369W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105143	NM_001037335.2(HELZ2):c.2773G>A (p.Gly925Ser)	HELZ2 (G925S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105142	NM_001037335.2(HELZ2):c.2546G>A (p.Arg849Gln)	HELZ2 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105141	NM_001037335.2(HELZ2):c.2545C>T (p.Arg849Trp)	HELZ2 (R849W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105140	NM_001037335.2(HELZ2):c.236G>A (p.Arg79His)	HELZ2 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105139	NM_001037335.2(HELZ2):c.2335C>G (p.Pro779Ala)	HELZ2 (P210A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105138	NM_001037335.2(HELZ2):c.2263C>T (p.Arg755Trp)	HELZ2 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105137	NM_001037335.2(HELZ2):c.1927G>A (p.Val643Met)	HELZ2 (V74M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105135	NM_001037335.2(HELZ2):c.1873G>T (p.Asp625Tyr)	HELZ2 (D56Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105134	NM_001037335.2(HELZ2):c.1820A>G (p.Asp607Gly)	HELZ2 (D607G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105133	NM_001037335.2(HELZ2):c.1804C>T (p.Arg602Cys)	HELZ2 (R33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105132	NM_001037335.2(HELZ2):c.160G>T (p.Ala54Ser)	HELZ2 (A54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105131	NM_001037335.2(HELZ2):c.1451C>T (p.Ala484Val)	HELZ2 (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105130	NM_001037335.2(HELZ2):c.1435C>T (p.Arg479Cys)	HELZ2 (R479C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105129	NM_001037335.2(HELZ2):c.1325A>G (p.Glu442Gly)	HELZ2 (E442G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105128	NM_001037335.2(HELZ2):c.1324G>A (p.Glu442Lys)	HELZ2 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105127	NM_001037335.2(HELZ2):c.1219C>G (p.Gln407Glu)	HELZ2 (Q407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105126	NM_001037335.2(HELZ2):c.1100G>A (p.Arg367Gln)	HELZ2 (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105125	NM_001037335.2(HELZ2):c.1094C>T (p.Thr365Ile)	HELZ2 (T365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684907	GRCh37/hg19 20q13.33(chr20:61934224-62247173)x3	CHRNA4, COL20A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2672055	GRCh37/hg19 20q13.33(chr20:61704244-62169893)x3	ARFGAP1, BIRC7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2652556	NM_001037335.2(HELZ2):c.564C>T (p.His188=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652555	NM_001037335.2(HELZ2):c.3498C>T (p.Ala1166=)	HELZ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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