ClinVar for Gene (Select 56978) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309836	NM_001099403.2(PRDM8):c.728G>A (p.Ser243Asn)	PRDM8 (S243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309835	NM_001099403.2(PRDM8):c.1960A>G (p.Met654Val)	PRDM8 (M654V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309834	NM_001099403.2(PRDM8):c.1310T>C (p.Leu437Pro)	PRDM8 (L437P)	Single nucleotide variant (missense variant)	not specified	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 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 3255243	NM_001099403.2(PRDM8):c.219+71T>A	PRDM8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3239226	NM_001099403.2(PRDM8):c.751G>A (p.Gly251Ser)	PRDM8 (G251S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3218470	NM_001099403.2(PRDM8):c.1430G>A (p.Gly477Glu)	PRDM8 (G477E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218469	NM_001099403.2(PRDM8):c.1427G>A (p.Gly476Asp)	PRDM8 (G476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218468	NM_001099403.2(PRDM8):c.1255G>C (p.Gly419Arg)	PRDM8 (G419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023056	NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 3018438	NM_001099403.2(PRDM8):c.1875C>T (p.Asn625=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 3009854	NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 3005889	NM_001099403.2(PRDM8):c.1986A>G (p.Arg662=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 2989434	NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2979573	NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2977936	NM_001099403.2(PRDM8):c.1392G>T (p.Pro464=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2972050	NM_001099403.2(PRDM8):c.1680G>A (p.Gly560=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2958408	NM_001099403.2(PRDM8):c.1158C>T (p.Phe386=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2903308	NM_001099403.2(PRDM8):c.1434G>A (p.Thr478=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2897673	NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=)	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 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 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 2881573	NM_001099403.2(PRDM8):c.1881C>T (p.Cys627=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2869651	NM_001099403.2(PRDM8):c.1362T>G (p.Pro454=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2865488	NM_001099403.2(PRDM8):c.1692C>T (p.Ser564=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2838016	NM_001099403.2(PRDM8):c.1167G>T (p.Val389=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 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 2785408	NM_001099403.2(PRDM8):c.219+13T>C	PRDM8	Single nucleotide variant (intron variant)	Early-onset Lafora body disease	GLikely benign
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 2742880	NM_001099403.2(PRDM8):c.633C>T (p.Asp211=)	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 2717034	NM_001099403.2(PRDM8):c.687A>G (p.Lys229=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2706017	NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2654840	NM_001099403.2(PRDM8):c.747C>T (p.Ala249=)	PRDM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602483	NM_001099403.2(PRDM8):c.1981C>T (p.Arg661Trp)	PRDM8 (R661W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2553712	NM_001099403.2(PRDM8):c.1644G>T (p.Lys548Asn)	PRDM8 (K548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553443	NM_001099403.2(PRDM8):c.1245C>G (p.Asp415Glu)	PRDM8 (D415E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552386	NM_001099403.2(PRDM8):c.656C>A (p.Ala219Glu)	PRDM8 (A219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516255	NM_001099403.2(PRDM8):c.1331C>T (p.Pro444Leu)	PRDM8 (P444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426532	NC_000004.11:g.(?_81121235)_(81124686_?)dup	PRDM8	Duplication	Early-onset Lafora body disease	GUncertain significance
Select item 2418978	NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2398913	NM_001099403.2(PRDM8):c.1853C>T (p.Ser618Leu)	PRDM8 (S618L)	Single nucleotide variant (missense variant)	not specified	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 2315305	NM_001099403.2(PRDM8):c.1385C>T (p.Ser462Leu)	PRDM8 (S462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291040	NM_001099403.2(PRDM8):c.1006T>G (p.Phe336Val)	PRDM8 (F336V)	Single nucleotide variant (missense variant)	not specified	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 2276058	NM_001099403.2(PRDM8):c.1013A>C (p.Glu338Ala)	PRDM8 (E338A)	Single nucleotide variant (missense variant)	not specified	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 2269699	NM_001099403.2(PRDM8):c.1517G>C (p.Arg506Pro)	LOC129992745, PRDM8 (R506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255527	NM_001099403.2(PRDM8):c.767A>C (p.Lys256Thr)	PRDM8 (K256T)	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 2195509	NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2186485	NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 2181519	NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2178496	NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)	PRDM8 (Q217E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
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 2171528	NM_001099403.2(PRDM8):c.1665G>A (p.Leu555=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2167283	NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)	PRDM8 (A589V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2164707	NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 2156267	NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)	PRDM8 (A410D)	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 2152238	NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)	PRDM8 (G194D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 2151054	NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)	PRDM8 (G481R)	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 2147141	NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)	PRDM8 (A597V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2145189	NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)	PRDM8 (Q550P)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2124076	NM_001099403.2(PRDM8):c.666C>T (p.Gly222=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2122047	NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)	PRDM8 (Q296*)	Single nucleotide variant (nonsense)	Early-onset Lafora body disease	GUncertain significance
Select item 2114398	NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)	PRDM8	Duplication (inframe_insertion)	Early-onset Lafora body disease	GUncertain significance
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 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 2108344	NM_001099403.2(PRDM8):c.1260C>G (p.Gly420=)	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 2104693	NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)	PRDM8 (L348M)	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 2096805	NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)	PRDM8 (R448P)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2095002	NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)	PRDM8 (A393T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2090114	NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2077676	NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])	PRDM8	Deletion (inframe_deletion)	Early-onset Lafora body disease	GUncertain significance
Select item 2072331	NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro)	PRDM8 (T424P)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
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 2049632	NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2039975	NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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 2014323	NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2011429	NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=)	PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
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

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