ClinVar for Gene (Select 85441) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 382

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284000	NM_001037335.2(HELZ2):c.28G>C (p.Gly10Arg)	HELZ2 (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283999	NM_001037335.2(HELZ2):c.1388C>A (p.Ala463Asp)	HELZ2 (A463D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283998	NM_001037335.2(HELZ2):c.1495C>T (p.Pro499Ser)	HELZ2 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283997	NM_001037335.2(HELZ2):c.1166G>T (p.Gly389Val)	HELZ2 (G389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283996	NM_001037335.2(HELZ2):c.3682G>A (p.Val1228Met)	HELZ2 (V659M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283995	NM_001037335.2(HELZ2):c.1219C>A (p.Gln407Lys)	HELZ2 (Q407K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283993	NM_001037335.2(HELZ2):c.3955G>A (p.Val1319Met)	HELZ2 (V750M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283992	NM_001037335.2(HELZ2):c.3116G>A (p.Cys1039Tyr)	HELZ2 (C1039Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283991	NM_001037335.2(HELZ2):c.2104C>T (p.Arg702Trp)	HELZ2 (R133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283990	NM_001037335.2(HELZ2):c.5389C>T (p.Arg1797Cys)	HELZ2 (R1228C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283989	NM_001037335.2(HELZ2):c.242C>T (p.Pro81Leu)	HELZ2 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283988	NM_001037335.2(HELZ2):c.2929G>C (p.Ala977Pro)	HELZ2 (A408P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283987	NM_001037335.2(HELZ2):c.4781C>T (p.Thr1594Met)	HELZ2 (T1025M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283986	NM_001037335.2(HELZ2):c.1751G>A (p.Arg584Gln)	HELZ2 (R584Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283985	NM_001037335.2(HELZ2):c.6338C>T (p.Ala2113Val)	HELZ2 (A1544V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283984	NM_001037335.2(HELZ2):c.6766G>A (p.Val2256Met)	HELZ2 (V1687M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283982	NM_001037335.2(HELZ2):c.7430G>A (p.Arg2477Gln)	HELZ2 (R2477Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283981	NM_001037335.2(HELZ2):c.7159G>C (p.Gly2387Arg)	HELZ2 (G2387R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283980	NM_001037335.2(HELZ2):c.823C>T (p.Arg275Cys)	HELZ2 (R275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283979	NM_001037335.2(HELZ2):c.1301G>A (p.Arg434Gln)	HELZ2 (R434Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283978	NM_001037335.2(HELZ2):c.5581C>A (p.Gln1861Lys)	HELZ2 (Q1861K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283977	NM_001037335.2(HELZ2):c.1390C>T (p.Arg464Cys)	HELZ2 (R464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283976	NM_001037335.2(HELZ2):c.2856G>C (p.Glu952Asp)	HELZ2 (E383D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283975	NM_001037335.2(HELZ2):c.5390G>A (p.Arg1797His)	HELZ2 (R1797H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283973	NM_001037335.2(HELZ2):c.3601G>A (p.Glu1201Lys)	HELZ2 (E1201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ABHD16B, ARFRP1 +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, ARFRP1 +18 more	Deletion	Neuronal ceroid lipofuscinosis +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

<< First< Prev

Page of 4