"Ambry Genetics"[submitter] AND "AMPD2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2148906	NM_001368809.2(AMPD2):c.-45C>T	AMPD2 (R40W)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2319714	NM_001368809.2(AMPD2):c.-30T>A	AMPD2 (S45T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2321793	NM_001368809.2(AMPD2):c.-27C>A	AMPD2 (P46T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1479471	NM_001368809.2(AMPD2):c.-18G>T	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 390606	NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)	AMPD2 (P26S +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 9 +4 more	GUncertain significance
Select item 474995	NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)	AMPD2, LOC129931109 (L31V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 1050854	NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)	AMPD2 (P21L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 655115	NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)	AMPD2 (D60N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 3293352	NM_001368809.2(AMPD2):c.217G>C (p.Ala73Pro)	AMPD2 (A73P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1613636	NM_001368809.2(AMPD2):c.223-5C>A	AMPD2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2622324	NM_001368809.2(AMPD2):c.239C>T (p.Ser80Leu)	AMPD2 (S80L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2391368	NM_001368809.2(AMPD2):c.244G>A (p.Ala82Thr)	AMPD2 (A136T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116776	NM_001368809.2(AMPD2):c.260G>A (p.Arg87His)	AMPD2 (R141H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116777	NM_001368809.2(AMPD2):c.339C>G (p.Ile113Met)	AMPD2 (I86M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428978	NM_001368809.2(AMPD2):c.415G>C (p.Asp139His)	AMPD2 (D139H +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 1483839	NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp)	AMPD2 (R89W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2611812	NM_001368809.2(AMPD2):c.601A>G (p.Met201Val)	AMPD2 (M180V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116794	NM_001368809.2(AMPD2):c.614T>G (p.Leu205Arg)	AMPD2 (L184R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297501	NM_001368809.2(AMPD2):c.646C>G (p.Leu216Val)	AMPD2 (L195V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116799	NM_001368809.2(AMPD2):c.664A>G (p.Lys222Glu)	AMPD2 (K158E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080358	NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)	AMPD2 (P188L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 2228742	NM_001368809.2(AMPD2):c.842G>T (p.Arg281Leu)	AMPD2 (R281L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291155	NM_001368809.2(AMPD2):c.923T>C (p.Leu308Pro)	AMPD2 (L244P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224991	NM_001368809.2(AMPD2):c.971G>C (p.Arg324Pro)	AMPD2, LOC126805822 (R297P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 225018	NM_001368809.2(AMPD2):c.1070A>G (p.Asn357Ser)	AMPD2, LOC126805822 (N293S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2553813	NM_001368809.2(AMPD2):c.1138A>G (p.Ile380Val)	AMPD2, LOC126805822 (I359V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293345	NM_001368809.2(AMPD2):c.1186C>G (p.Gln396Glu)	AMPD2, LOC126805822 (Q369E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 578069	NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)	AMPD2, LOC126805822 (R334C +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2488496	NM_001368809.2(AMPD2):c.1199A>C (p.Gln400Pro)	AMPD2, LOC126805822 (Q400P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227783	NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 665782	NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)	AMPD2, LOC126805822 (I379T +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 2597361	NM_001368809.2(AMPD2):c.1504C>T (p.Arg502Cys)	AMPD2, LOC126805822 (R475C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421244	NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)	LOC126805822, AMPD2 (V441I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1938758	NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)	AMPD2, LOC126805822 (V488M +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 2528613	NM_001368809.2(AMPD2):c.1600G>A (p.Ala534Thr)	AMPD2, LOC126805822 (A470T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228440	NM_001368809.2(AMPD2):c.1698C>T (p.His566=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2284739	NM_001368809.2(AMPD2):c.1700T>C (p.Val567Ala)	AMPD2 (V567A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 944582	NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val)	AMPD2 (A572V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3293373	NM_001368809.2(AMPD2):c.1801C>T (p.Pro601Ser)	AMPD2 (P537S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047802	NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)	AMPD2 (R557G +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 3116741	NM_001368809.2(AMPD2):c.1866G>C (p.Gln622His)	AMPD2 (Q676H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306782	NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met)	AMPD2 (T563M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3116746	NM_001368809.2(AMPD2):c.1978C>T (p.Arg660Cys)	AMPD2 (R660C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985460	NM_001368809.2(AMPD2):c.2228T>C (p.Leu743Pro)	AMPD2 (L679P +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +3 more	GUncertain significance
Select item 3116749	NM_001368809.2(AMPD2):c.2248A>T (p.Met750Leu)	AMPD2 (M723L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1309847	NM_001368809.2(AMPD2):c.2402C>T (p.Thr801Met)	AMPD2 (T737M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2294268	NM_001368809.2(AMPD2):c.2428G>A (p.Glu810Lys)	AMPD2 (E746K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293363	NM_001368809.2(AMPD2):c.2456C>T (p.Thr819Ile)	AMPD2 (T792I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 48