PRDM8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	CSN2, LOC129389218 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 3256798	NM_020226.4(PRDM8):c.-982-8_-982-4dup	PRDM8, PRDM8-AS1	Duplication (intron variant)	not specified	GBenign
Select item 969498	NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala)	PRDM8 (T4A)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 943120	NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)	PRDM8 (G5D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 850420	NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)	PRDM8 (I6N)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2269700	NM_001099403.2(PRDM8):c.23G>A (p.Arg8Gln)	PRDM8 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 475679	NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp)	PRDM8 (G9D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2322241	NM_001099403.2(PRDM8):c.34G>T (p.Asp12Tyr)	PRDM8 (D12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1063110	NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn)	PRDM8 (D12N)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1977095	NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)	PRDM8 (D12E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 838866	NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)	PRDM8 (D14N)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1586201	NM_001099403.2(PRDM8):c.57A>G (p.Gln19=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1504980	NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys)	PRDM8 (Q20K)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 859834	NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)	PRDM8 (T23K)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2821093	NM_001099403.2(PRDM8):c.81C>T (p.Thr27=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1983832	NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)	PRDM8 (V29I)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1127885	NM_001099403.2(PRDM8):c.90C>T (p.Tyr30=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 542342	NM_001099403.2(PRDM8):c.117T>C (p.Ala39=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GBenign
Select item 1475554	NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val)	PRDM8 (I40V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1389691	NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val)	PRDM8 (F41V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1007616	NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser)	PRDM8 (P43S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 848417	NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)	PRDM8 (T49N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1150175	NM_001099403.2(PRDM8):c.159C>T (p.Asp53=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1425322	NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val)	PRDM8 (I55V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 565874	NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys)	PRDM8 (I55K)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2147318	NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)	PRDM8 (I58V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1515481	NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu)	PRDM8 (D64E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 949612	NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile)	PRDM8 (V68I)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2884330	NM_001099403.2(PRDM8):c.207G>A (p.Pro69=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 946502	NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys)	PRDM8 (Y70C)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2785408	NM_001099403.2(PRDM8):c.219+13T>C	PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 2114211	NM_001099403.2(PRDM8):c.219+17G>T	PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 1612807	NM_001099403.2(PRDM8):c.219+17G>A	PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
Select item 3255243	NM_001099403.2(PRDM8):c.219+71T>A	PRDM8	Single nucleotide variant (intron variant)	not specified	GBenign
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)	not specified +2 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 disorder +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 3255288	NM_001099403.2(PRDM8):c.451+131G>A	LOC126807094, PRDM8	Single nucleotide variant (intron variant)	not specified	GBenign
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 2254373	NM_001099403.2(PRDM8):c.509A>G (p.Tyr170Cys)	LOC126807094, PRDM8 (Y170C)	Single nucleotide variant (missense variant)	not specified	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 3309833	NM_001099403.2(PRDM8):c.559A>G (p.Ile187Val)	LOC126807094, PRDM8 (I187V)	Single nucleotide variant (missense variant)	not specified	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 2779813	NM_001099403.2(PRDM8):c.564T>C (p.Ser188=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2896878	NM_001099403.2(PRDM8):c.573C>T (p.Asp191=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2152238	NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)	PRDM8 (G194D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 651342	NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu)	PRDM8 (V197L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2994277	NM_001099403.2(PRDM8):c.591G>T (p.Val197=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1496765	NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp)	PRDM8 (G198D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2277278	NM_001099403.2(PRDM8):c.601G>A (p.Asp201Asn)	PRDM8 (D201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1433352	NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup)	PRDM8	Microsatellite (inframe_insertion)	Early-onset Lafora body disease	GUncertain significance
Select item 1059274	NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp)	PRDM8 (G204D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance

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