Related gene-specific medical variations for Gene (Select 56978) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309833	NM_001099403.2(PRDM8):c.559A>G (p.Ile187Val)	LOC126807094, PRDM8 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256798	NM_020226.4(PRDM8):c.-982-8_-982-4dup	PRDM8, PRDM8-AS1	Duplication (intron variant)	not specified	GBenign
Select item 3255288	NM_001099403.2(PRDM8):c.451+131G>A	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3006169	NM_001099403.2(PRDM8):c.945A>G (p.Lys315=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2886100	NM_001099403.2(PRDM8):c.556G>C (p.Asp186His)	LOC126807094, PRDM8 (D186H)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2811347	NM_001099403.2(PRDM8):c.504C>T (p.Phe168=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2741950	NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2269699	NM_001099403.2(PRDM8):c.1517G>C (p.Arg506Pro)	LOC129992745, PRDM8 (R506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254373	NM_001099403.2(PRDM8):c.509A>G (p.Tyr170Cys)	LOC126807094, PRDM8 (Y170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183668	NM_001099403.2(PRDM8):c.951G>A (p.Pro317=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2175978	NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp)	LOC129992744, PRDM8 (G332D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2158751	NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val)	LOC129992744, PRDM8 (G310V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2156019	NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2111018	NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)	LOC129992745, PRDM8 (G489R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2107873	NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser)	LOC126807094, PRDM8 (P142S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2103755	NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)	LOC129992745, PRDM8 (A493G)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2097683	NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2061056	NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)	LOC129992745, PRDM8	Duplication (inframe_insertion)	Early-onset Lafora body disease	GUncertain significance
Select item 2026772	NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)	LOC129992745, PRDM8 (S512Y)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2015490	NM_001099403.2(PRDM8):c.259A>G (p.Met87Val)	LOC126807094, PRDM8 (M87V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2002239	NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu)	LOC126807094, PRDM8 (F168L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1994897	NM_001099403.2(PRDM8):c.996C>G (p.Gly332=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1953108	NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)	LOC129992745, PRDM8 (S509L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1941677	NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu)	LOC126807094, PRDM8 (Q111E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1717471	NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)	LOC129992745, PRDM8 (Q503R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1672842	NM_001099403.2(PRDM8):c.451+20G>A	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1671203	NM_001099403.2(PRDM8):c.978C>A (p.Gly326=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1670346	NM_001099403.2(PRDM8):c.452-19G>T	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1658879	NM_001099403.2(PRDM8):c.409T>C (p.Leu137=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1656390	NM_001099403.2(PRDM8):c.363C>G (p.Ala121=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1621081	NM_001099403.2(PRDM8):c.220-20T>C	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1591986	NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1584631	NM_001099403.2(PRDM8):c.452-15T>C	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1583937	NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1565684	NM_001099403.2(PRDM8):c.220-17T>A	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1540300	NM_001099403.2(PRDM8):c.369C>T (p.Asp123=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1514150	NM_001099403.2(PRDM8):c.224A>T (p.Asp75Val)	LOC126807094, PRDM8 (D75V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1502850	NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg)	LOC126807094, PRDM8 (C178R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1497184	NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg)	LOC126807094, PRDM8 (G110R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1485833	NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu)	LOC129992744, PRDM8 (G312E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1458201	NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1440154	NM_001099403.2(PRDM8):c.232G>A (p.Ala78Thr)	LOC126807094, PRDM8 (A78T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1435918	NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly)	LOC126807094, PRDM8 (E99G)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1434308	NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala)	LOC129992744, PRDM8 (E319A)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1420951	NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr)	LOC126807094, PRDM8 (A172T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1405204	NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys)	LOC126807094, PRDM8 (E84K)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1400069	NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val)	LOC129992745, PRDM8 (G489V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1397193	NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr)	LOC126807094, PRDM8 (M87T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1353013	NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs)	LOC126807094, PRDM8 (N147fs)	Deletion (frameshift variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1345373	NM_001099403.2(PRDM8):c.488G>A (p.Arg163His)	LOC126807094, PRDM8 (R163H)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1153441	NM_001099403.2(PRDM8):c.222A>G (p.Val74=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1152369	NM_001099403.2(PRDM8):c.415T>C (p.Leu139=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1149753	NM_001099403.2(PRDM8):c.372G>A (p.Glu124=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1145385	NM_001099403.2(PRDM8):c.271T>C (p.Leu91=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1113475	NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=)	PRDM8, LOC129992745	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1102582	NM_001099403.2(PRDM8):c.951G>C (p.Pro317=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1089809	NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1087438	NM_001099403.2(PRDM8):c.555T>G (p.Ala185=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1078614	NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1062376	NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu)	LOC129992744, PRDM8 (G331E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1060338	NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln)	LOC126807094, PRDM8 (R90Q)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1055077	NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe)	LOC126807094, PRDM8 (S143F)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1037877	NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg)	PRDM8, LOC126807094 (S184R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1026070	NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp)	LOC129992745, PRDM8 (S494W)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1019467	NM_001099403.2(PRDM8):c.983G>C (p.Gly328Ala)	LOC129992744, PRDM8 (G328A)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1007878	NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser)	LOC129992744, PRDM8 (G325S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 978527	NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr)	LOC126807094, PRDM8 (I187T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 950793	NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)	LOC129992745, PRDM8 (Q518*)	Single nucleotide variant (nonsense)	Early-onset Lafora body disease	GUncertain significance
Select item 942442	NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile)	LOC126807094, PRDM8 (T135I)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 941638	NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)	LOC129992745, PRDM8 (G521D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 940145	NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg)	LOC129992745, PRDM8 (Q518R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 937942	NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys)	LOC126807094, PRDM8 (E125K)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 936105	NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)	LOC129992745, PRDM8 (G489S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 853902	NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp)	LOC129992744, PRDM8 (R314W)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 845760	NM_001099403.2(PRDM8):c.282G>A (p.Ser94=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 839945	NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe)	LOC126807094, PRDM8 (L126F)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 789506	NM_001099403.2(PRDM8):c.459C>A (p.Ser153=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 787806	NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 772033	NM_001099403.2(PRDM8):c.276C>G (p.Val92=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease +1 more	GLikely benign
Select item 772026	NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GBenign
Select item 744545	NM_001099403.2(PRDM8):c.231A>G (p.Ser77=)	PRDM8, LOC126807094	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 581117	NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr)	LOC129992745, PRDM8 (A492T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 575961	NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu)	LOC129992744, PRDM8 (R333L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 574303	NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu)	LOC126807094, PRDM8 (P169L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 570269	NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu)	LOC129992745, PRDM8 (Q490E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 565549	NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser)	LOC126807094, PRDM8 (R181S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 542343	NM_001099403.2(PRDM8):c.972C>T (p.Gly324=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GBenign
Select item 542340	NM_001099403.2(PRDM8):c.985C>T (p.Leu329=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 542336	NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)	PRDM8, LOC126807094 (G110A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 475686	NM_001099403.2(PRDM8):c.987G>T (p.Leu329=)	LOC129992744, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease +1 more	GBenign
Select item 475680	NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe)	LOC126807094, PRDM8 (L138F)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 475671	NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His)	LOC129992745, PRDM8 (Q510H)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 475670	NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp)	LOC129992745, PRDM8 (G489D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 445962	NM_001099403.2(PRDM8):c.451+13G>T	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease +1 more	GBenign/Likely benign

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Items: 94