"Invitae"[submitter] AND "LOC126807094"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 744545	NM_001099403.2(PRDM8):c.231A>G (p.Ser77=)	LOC126807094, 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 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 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 1397193	NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr)	PRDM8, LOC126807094 (M87T)	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 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 772033	NM_001099403.2(PRDM8):c.276C>G (p.Val92=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 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 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 542336	NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)	LOC126807094, PRDM8 (G110A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 1149753	NM_001099403.2(PRDM8):c.372G>A (p.Glu124=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	PRDM8-related condition +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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
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 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 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 789506	NM_001099403.2(PRDM8):c.459C>A (p.Ser153=)	PRDM8, LOC126807094	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 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 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 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 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 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 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 1037877	NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg)	LOC126807094, PRDM8 (S184R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1087438	NM_001099403.2(PRDM8):c.555T>G (p.Ala185=)	LOC126807094, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease +1 more	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 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

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Items: 45