PREX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2307505	NM_020820.4(PREX1):c.4972G>A (p.Asp1658Asn)	PREX1 (D1658N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770000	NM_020820.4(PREX1):c.4851G>A (p.Thr1617=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2547191	NM_020820.4(PREX1):c.4850C>T (p.Thr1617Met)	PREX1 (T1617M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247631	NM_020820.4(PREX1):c.4842G>T (p.Met1614Ile)	PREX1 (M1614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336999	NM_020820.4(PREX1):c.4706C>T (p.Ser1569Leu)	PREX1 (S1569L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218570	NM_020820.4(PREX1):c.4679T>G (p.Val1560Gly)	PREX1 (V1560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1296867	NM_020820.4(PREX1):c.4676G>C (p.Ser1559Thr)	PREX1 (S1559T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2457952	NM_020820.4(PREX1):c.4666G>A (p.Ala1556Thr)	PREX1 (A1556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235020	NM_020820.4(PREX1):c.4626C>T (p.Leu1542=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2600399	NM_020820.4(PREX1):c.4568G>T (p.Ser1523Ile)	PREX1 (S1523I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458682	NM_020820.4(PREX1):c.4559C>T (p.Thr1520Met)	PREX1 (T1520M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327627	NM_020820.4(PREX1):c.4552C>G (p.Leu1518Val)	PREX1 (L1518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602771	NM_020820.4(PREX1):c.4543C>T (p.Arg1515Trp)	PREX1 (R1515W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711758	NM_020820.4(PREX1):c.4456G>T (p.Ala1486Ser)	PREX1 (A1486S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 778624	NM_020820.4(PREX1):c.4368G>A (p.Glu1456=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2486869	NM_020820.4(PREX1):c.4178G>A (p.Arg1393Gln)	PREX1 (R1393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517066	NM_020820.4(PREX1):c.4126G>A (p.Val1376Ile)	PREX1 (V1376I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553179	NM_020820.4(PREX1):c.4094G>T (p.Arg1365Leu)	PREX1 (R1365L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774531	NM_020820.4(PREX1):c.4044C>T (p.Tyr1348=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2542800	NM_020820.4(PREX1):c.4000G>T (p.Ala1334Ser)	PREX1 (A1334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218569	NM_020820.4(PREX1):c.3973G>A (p.Ala1325Thr)	PREX1 (A1325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916464	NM_020820.4(PREX1):c.3972C>T (p.Asp1324=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375251	NM_020820.4(PREX1):c.3896A>C (p.Tyr1299Ser)	PREX1 (Y1299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034218	NM_020820.4(PREX1):c.3836A>G (p.Gln1279Arg)	PREX1 (Q1279R)	Single nucleotide variant (missense variant)	PREX1-related disorder	GLikely benign
Select item 3218568	NM_020820.4(PREX1):c.3829A>G (p.Ser1277Gly)	PREX1 (S1277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218567	NM_020820.4(PREX1):c.3763C>T (p.His1255Tyr)	PREX1 (H1255Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265356	NM_020820.4(PREX1):c.3592A>T (p.Met1198Leu)	PREX1 (M1198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218566	NM_020820.4(PREX1):c.3509A>G (p.Tyr1170Cys)	PREX1 (Y1170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264996	NM_020820.4(PREX1):c.3484G>A (p.Asp1162Asn)	PREX1 (D1162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344912	NM_020820.4(PREX1):c.3352G>A (p.Ala1118Thr)	PREX1 (A1118T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218564	NM_020820.4(PREX1):c.3349G>C (p.Asp1117His)	PREX1 (D1117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059716	NM_020820.4(PREX1):c.3289G>A (p.Val1097Ile)	PREX1 (V1097I)	Single nucleotide variant (missense variant)	PREX1-related disorder	GUncertain significance
Select item 780178	NM_020820.4(PREX1):c.3225C>T (p.Ile1075=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218563	NM_020820.4(PREX1):c.3187G>A (p.Gly1063Ser)	PREX1 (G1063S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218562	NM_020820.4(PREX1):c.3185G>C (p.Arg1062Pro)	PREX1 (R1062P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251076	NM_020820.4(PREX1):c.3184C>T (p.Arg1062Trp)	PREX1 (R1062W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282590	NM_020820.4(PREX1):c.3148T>C (p.Phe1050Leu)	PREX1 (F1050L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219061	NM_020820.4(PREX1):c.3131G>T (p.Gly1044Val)	PREX1 (G1044V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338311	NM_020820.4(PREX1):c.3057G>T (p.Gln1019His)	PREX1 (Q1019H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351831	NM_020820.4(PREX1):c.3047C>T (p.Ser1016Leu)	PREX1 (S1016L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652379	NM_020820.4(PREX1):c.3039C>T (p.Asn1013=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218561	NM_020820.4(PREX1):c.3019C>G (p.Pro1007Ala)	PREX1 (P1007A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537111	NM_020820.4(PREX1):c.2788A>G (p.Ile930Val)	PREX1 (I930V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294981	NM_020820.4(PREX1):c.2734G>A (p.Val912Met)	PREX1 (V912M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218559	NM_020820.4(PREX1):c.2704A>G (p.Arg902Gly)	PREX1 (R902G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465900	NM_020820.4(PREX1):c.2656A>G (p.Ile886Val)	PREX1 (I886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035974	NM_020820.4(PREX1):c.2630G>A (p.Arg877His)	PREX1 (R877H)	Single nucleotide variant (missense variant)	PREX1-related disorder	GLikely benign
Select item 2399619	NM_020820.4(PREX1):c.2620G>C (p.Val874Leu)	PREX1 (V874L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383027	NM_020820.4(PREX1):c.2620G>A (p.Val874Met)	PREX1 (V874M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487104	NM_020820.4(PREX1):c.2606T>C (p.Val869Ala)	PREX1 (V869A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280197	NM_020820.4(PREX1):c.2543A>T (p.Asn848Ile)	PREX1 (N848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780179	NM_020820.4(PREX1):c.2496G>C (p.Arg832=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224100	NM_020820.4(PREX1):c.2468C>A (p.Ala823Asp)	PREX1 (A823D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495109	NM_020820.4(PREX1):c.2387A>C (p.Gln796Pro)	PREX1 (Q796P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218558	NM_020820.4(PREX1):c.2366A>G (p.Tyr789Cys)	PREX1 (Y789C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461686	NM_020820.4(PREX1):c.2326A>G (p.Ser776Gly)	PREX1 (S776G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788665	NM_020820.4(PREX1):c.2282A>G (p.Asn761Ser)	PREX1 (N761S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2520776	NM_020820.4(PREX1):c.2275G>A (p.Val759Met)	PREX1 (V759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355478	NM_020820.4(PREX1):c.2264A>G (p.Asn755Ser)	PREX1 (N755S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218557	NM_020820.4(PREX1):c.2179G>A (p.Ala727Thr)	PREX1 (A727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710980	NM_020820.4(PREX1):c.2171G>A (p.Arg724His)	PREX1 (R724H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2495374	NM_020820.4(PREX1):c.2170C>T (p.Arg724Cys)	PREX1 (R724C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222640	NM_020820.4(PREX1):c.2169T>G (p.Ile723Met)	PREX1 (I723M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554808	NM_020820.4(PREX1):c.2130C>G (p.Ile710Met)	PREX1 (I710M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357590	NM_020820.4(PREX1):c.2095C>T (p.Arg699Cys)	PREX1 (R699C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405453	NM_020820.4(PREX1):c.2042T>G (p.Phe681Cys)	PREX1 (F681C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218556	NM_020820.4(PREX1):c.1951G>A (p.Val651Ile)	PREX1 (V651I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225790	NM_020820.4(PREX1):c.1874G>A (p.Arg625His)	PREX1 (R625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218555	NM_020820.4(PREX1):c.1820A>G (p.Lys607Arg)	PREX1 (K607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557568	NM_020820.4(PREX1):c.1751G>T (p.Ser584Ile)	PREX1 (S584I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609946	NM_020820.4(PREX1):c.1721A>G (p.Asn574Ser)	PREX1 (N574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774258	NM_020820.4(PREX1):c.1698G>A (p.Ala566=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652380	NM_020820.4(PREX1):c.1635G>A (p.Gly545=)	PREX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622854	NM_020820.4(PREX1):c.1544T>C (p.Val515Ala)	PREX1 (V515A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537549	NM_020820.4(PREX1):c.1532T>C (p.Met511Thr)	PREX1 (M511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514663	NM_020820.4(PREX1):c.1229C>T (p.Ala410Val)	PREX1 (A410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339330	NM_020820.4(PREX1):c.1222A>G (p.Met408Val)	PREX1 (M408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218553	NM_020820.4(PREX1):c.1169A>T (p.Glu390Val)	PREX1 (E390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055040	NM_020820.4(PREX1):c.1071C>T (p.Asn357=)	PREX1	Single nucleotide variant (synonymous variant)	PREX1-related disorder	GLikely benign
Select item 2489232	NM_020820.4(PREX1):c.802A>C (p.Ile268Leu)	PREX1 (I268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595166	NM_020820.4(PREX1):c.801C>A (p.Asp267Glu)	PREX1 (D267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218573	NM_020820.4(PREX1):c.632A>G (p.Lys211Arg)	PREX1 (K211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215235	NM_020820.4(PREX1):c.456T>G (p.His152Gln)	PREX1 (H152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054151	NM_020820.4(PREX1):c.346G>T (p.Ala116Ser)	PREX1 (A116S)	Single nucleotide variant (missense variant)	PREX1-related disorder	GLikely benign
Select item 3218565	NM_020820.4(PREX1):c.341T>C (p.Leu114Ser)	PREX1 (L114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 3218554	NM_020820.4(PREX1):c.119C>G (p.Ala40Gly)	PREX1 (A40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248181	NM_020820.4(PREX1):c.91A>C (p.Ser31Arg)	PREX1 (S31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218572	NM_020820.4(PREX1):c.62A>G (p.Asp21Gly)	PREX1 (D21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542376	NM_020820.4(PREX1):c.56A>G (p.His19Arg)	PREX1 (H19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463286	NM_020820.4(PREX1):c.22G>A (p.Glu8Lys)	PREX1 (E8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248337	NC_000020.10:g.(?_47340117)_(47538567_?)dup	ARFGEF2, PREX1	Duplication	not provided	GUncertain significance
Select item 1340859	GRCh37/hg19 20q13.13(chr20:46721299-47873110)x3	ARFGEF2, CSE1L +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443886	GRCh37/hg19 20q13.13(chr20:46582570-47333968)x3	PREX1	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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