"PreventionGenetics, part of Exact Sciences"[submitter] AND "PREX2"[ge - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658641	NM_024870.4(PREX2):c.-4G>C	PREX2	Single nucleotide variant (5 prime UTR variant)	PREX2-related disorder +1 more	GBenign/Likely benign
Select item 3049918	NM_024870.4(PREX2):c.96G>A (p.Gln32=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3060181	NM_024870.4(PREX2):c.99G>A (p.Lys33=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3053706	NM_024870.4(PREX2):c.167G>A (p.Cys56Tyr)	PREX2 (C56Y)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3043142	NM_024870.4(PREX2):c.270C>T (p.Val90=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3049219	NM_024870.4(PREX2):c.408C>T (p.Leu136=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 725836	NM_024870.4(PREX2):c.705+8C>T	PREX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3038270	NM_024870.4(PREX2):c.934G>A (p.Asp312Asn)	PREX2 (D312N)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3044534	NM_024870.4(PREX2):c.954T>C (p.His318=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 791167	NM_024870.4(PREX2):c.1094-7T>C	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder +1 more	GBenign
Select item 1274701	NM_024870.4(PREX2):c.1195C>A (p.Arg399=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder +1 more	GBenign
Select item 1253695	NM_024870.4(PREX2):c.1200G>A (p.Lys400=)	PREX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1283008	NM_024870.4(PREX2):c.1239-7C>G	PREX2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3042294	NM_024870.4(PREX2):c.1340-10A>G	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GLikely benign
Select item 780757	NM_024870.4(PREX2):c.1431C>T (p.Asp477=)	PREX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3033850	NM_024870.4(PREX2):c.1443+6G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 2628843	NM_024870.4(PREX2):c.1504del (p.Tyr502fs)	PREX2 (Y502fs)	Deletion (frameshift variant)	PREX2-related disorder	GUncertain significance
Select item 776354	NM_024870.4(PREX2):c.1609G>A (p.Val537Ile)	PREX2 (V537I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3033461	NM_024870.4(PREX2):c.1716A>G (p.Ser572=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3060741	NM_024870.4(PREX2):c.1818A>G (p.Gly606=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3061030	NM_024870.4(PREX2):c.1819T>C (p.Leu607=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 3059183	NM_024870.4(PREX2):c.1879-7C>T	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3059825	NM_024870.4(PREX2):c.2027+10A>G	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3057031	NM_024870.4(PREX2):c.2116A>T (p.Thr706Ser)	PREX2 (T706S)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3060225	NM_024870.4(PREX2):c.2250+8G>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 1288091	NM_024870.4(PREX2):c.2385C>T (p.Phe795=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder +1 more	GBenign
Select item 2658643	NM_024870.4(PREX2):c.2658T>C (p.Ser886=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder +1 more	GBenign/Likely benign
Select item 3056944	NM_024870.4(PREX2):c.2716-2760G>T	PREX2 (R976M)	Single nucleotide variant (missense variant +1 more)	PREX2-related disorder	GBenign
Select item 3060975	NM_024870.4(PREX2):c.2868T>C (p.Ser956=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign
Select item 713362	NM_024870.4(PREX2):c.2930C>T (p.Ser977Leu)	PREX2 (S977L)	Single nucleotide variant (missense variant)	PREX2-related disorder +1 more	GBenign/Likely benign
Select item 3058803	NM_024870.4(PREX2):c.2958G>T (p.Val986=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3055799	NM_024870.4(PREX2):c.3652A>G (p.Ile1218Val)	PREX2 (I1218V)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3049580	NM_024870.4(PREX2):c.3689G>A (p.Arg1230Gln)	PREX2 (R1230Q)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 1274446	NM_024870.4(PREX2):c.3882G>A (p.Lys1294=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder +1 more	GBenign
Select item 3043235	NM_024870.4(PREX2):c.3892A>T (p.Met1298Leu)	PREX2 (M1298L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GLikely benign
Select item 3034784	NM_024870.4(PREX2):c.3936G>A (p.Ala1312=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 787704	NM_024870.4(PREX2):c.4180C>T (p.Arg1394Trp)	PREX2 (R1394W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3038089	NM_024870.4(PREX2):c.4463C>T (p.Ser1488Leu)	PREX2 (S1488L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3043990	NM_024870.4(PREX2):c.4521G>A (p.Gly1507=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 768243	NM_024870.4(PREX2):c.4545G>A (p.Ser1515=)	PREX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3045183	NM_024870.4(PREX2):c.4566C>T (p.Gly1522=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GLikely benign
Select item 3059638	NM_024870.4(PREX2):c.4775+10T>A	PREX2	Single nucleotide variant (intron variant)	PREX2-related disorder	GBenign
Select item 3042867	NM_024870.4(PREX2):c.4796C>T (p.Pro1599Leu)	PREX2 (P1599L)	Single nucleotide variant (missense variant)	PREX2-related disorder	GBenign
Select item 3059032	NM_024870.4(PREX2):c.4797A>G (p.Pro1599=)	PREX2	Single nucleotide variant (synonymous variant)	PREX2-related disorder	GBenign

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Items: 44