"Ambry Genetics"[submitter] AND "PRDM8"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2322241	NM_001099403.2(PRDM8):c.34G>T (p.Asp12Tyr)	PRDM8 (D12Y)	Single nucleotide variant (missense variant)	not specified	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 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)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 542336	NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)	LOC126807094, PRDM8 (G110A)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +2 more	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 3309833	NM_001099403.2(PRDM8):c.559A>G (p.Ile187Val)	LOC126807094, PRDM8 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2277278	NM_001099403.2(PRDM8):c.601G>A (p.Asp201Asn)	PRDM8 (D201N)	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 863656	NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile)	PRDM8 (F227I)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 542335	NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser)	PRDM8 (P241S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
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 2255527	NM_001099403.2(PRDM8):c.767A>C (p.Lys256Thr)	PRDM8 (K256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 542338	NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser)	PRDM8 (G290S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 967146	NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser)	PRDM8 (G293S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 1007878	NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser)	LOC129992744, PRDM8 (G325S)	Single nucleotide variant (missense variant)	not specified +1 more	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 2276058	NM_001099403.2(PRDM8):c.1013A>C (p.Glu338Ala)	PRDM8 (E338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1409836	NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val)	PRDM8 (E412V)	Single nucleotide variant (missense variant)	not specified +1 more	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 1007922	NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu)	PRDM8 (D415E)	Single nucleotide variant (missense variant)	not specified +1 more	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 838542	NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser)	PRDM8 (P430S)	Single nucleotide variant (missense variant)	not specified +1 more	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 2516255	NM_001099403.2(PRDM8):c.1331C>T (p.Pro444Leu)	PRDM8 (P444L)	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 1036496	NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp)	PRDM8 (G470D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	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 3218470	NM_001099403.2(PRDM8):c.1430G>A (p.Gly477Glu)	PRDM8 (G477E)	Single nucleotide variant (missense variant)	not specified	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 2269699	NM_001099403.2(PRDM8):c.1517G>C (p.Arg506Pro)	LOC129992745, PRDM8 (R506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 961988	NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val)	PRDM8 (A529V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1399607	NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu)	PRDM8 (D530E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
Select item 940385	NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser)	PRDM8 (A541S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
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 581838	NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg)	PRDM8 (G551R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1017228	NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg)	PRDM8 (P563R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 648808	NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg)	PRDM8 (P574R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance
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 3309835	NM_001099403.2(PRDM8):c.1960A>G (p.Met654Val)	PRDM8 (M654V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 658722	NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser)	PRDM8 (P656S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1009300	NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg)	PRDM8 (K667R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease +1 more	GUncertain significance

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Items: 45