ClinVar Miner

List of variants in gene PRDM8 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_020226.3(PRDM8):c.1075G>A (p.Gly359Ser)
NM_020226.3(PRDM8):c.1147C>T (p.Arg383Cys)
NM_020226.3(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_020226.3(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_020226.3(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_020226.3(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_020226.3(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_020226.3(PRDM8):c.1426G>A (p.Gly476Ser)
NM_020226.3(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_020226.3(PRDM8):c.1450G>A (p.Gly484Ser)
NM_020226.3(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_020226.3(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_020226.3(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_020226.3(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_020226.3(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_020226.3(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514
NM_020226.3(PRDM8):c.164T>A (p.Ile55Lys)
NM_020226.3(PRDM8):c.1650G>C (p.Gln550His)
NM_020226.3(PRDM8):c.1651G>A (p.Gly551Arg)
NM_020226.3(PRDM8):c.1721C>G (p.Pro574Arg)
NM_020226.3(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup)
NM_020226.3(PRDM8):c.1805_1810AGCTGC[1] (p.602_603QL[1])
NM_020226.3(PRDM8):c.1813C>G (p.Leu605Val)
NM_020226.3(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_020226.3(PRDM8):c.1951_1952delinsAT (p.Glu651Met)
NM_020226.3(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_020226.3(PRDM8):c.1966C>T (p.Pro656Ser)
NM_020226.3(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_020226.3(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_020226.3(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_020226.3(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_020226.3(PRDM8):c.506C>T (p.Pro169Leu)
NM_020226.3(PRDM8):c.543A>T (p.Arg181Ser)
NM_020226.3(PRDM8):c.589G>T (p.Val197Leu)
NM_020226.3(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_020226.3(PRDM8):c.634_636CAG[7] (p.Gln217dup) rs748593482
NM_020226.3(PRDM8):c.647A>T (p.Gln216Leu)
NM_020226.3(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_020226.3(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_020226.3(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_020226.3(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_020226.3(PRDM8):c.865A>G (p.Ser289Gly)
NM_020226.3(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_020226.3(PRDM8):c.884A>C (p.His295Pro)
NM_020226.3(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516

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