ClinVar for MedGen (Select 120613) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3000078	NM_000290.4(PGAM2):c.201C>T (p.Leu67=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2991153	NM_000290.4(PGAM2):c.393C>T (p.Pro131=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2959446	NM_000290.4(PGAM2):c.321C>T (p.His107=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2914890	NM_000290.4(PGAM2):c.81T>C (p.Asp27=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2906793	NM_000290.4(PGAM2):c.63T>C (p.Arg21=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2875870	NM_000290.4(PGAM2):c.684G>A (p.Lys228=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2844065	NM_000290.4(PGAM2):c.372C>A (p.Pro124=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2801963	NM_000290.4(PGAM2):c.300G>A (p.Lys100=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2792686	NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)	DBNL, PGAM2 (S58*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2755621	NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)	DBNL, PGAM2 (G148R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2719100	NM_001014436.3(DBNL):c.*4108A>C	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2713140	NM_000290.4(PGAM2):c.33C>T (p.His11=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2711989	NM_000290.4(PGAM2):c.330G>A (p.Glu110=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2434672	NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)	DBNL, LOC129998341 +1 more (R162P)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2434671	NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)	DBNL, PGAM2 (E128K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2427882	NM_001014436.3(DBNL):c.*2022G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2422821	NC_000007.13:g.(?_44102363)_(44105128_?)dup	PGAM2	Duplication	Glycogen storage disease type X	GUncertain significance
Select item 2422820	NC_000007.13:g.(?_44102363)_(44105128_?)del	PGAM2	Deletion	Glycogen storage disease type X	GPathogenic
Select item 2415007	NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)	DBNL, PGAM2 (G144D)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2321542	NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)	DBNL, LOC129998342 +1 more (P123L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194940	NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)	DBNL, PGAM2 (R141Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2194002	NM_000290.4(PGAM2):c.342C>T (p.Ile114=)	LOC129998342, DBNL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2191895	NM_001014436.3(DBNL):c.*2031A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2184874	NM_000290.4(PGAM2):c.720G>C (p.Arg240=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2184837	NM_000290.4(PGAM2):c.14G>A (p.Arg5His)	DBNL, PGAM2 (R5H)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2184369	NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)	DBNL, LOC129998341 +1 more (E169K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2182447	NM_000290.4(PGAM2):c.441C>T (p.Pro147=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2179816	NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)	PGAM2, DBNL (T57M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2173720	NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)	DBNL, PGAM2 (G24S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2173394	NM_000290.4(PGAM2):c.419G>A (p.Arg140His)	PGAM2, DBNL (R140H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2168327	NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)	DBNL, LOC129998343 +1 more (T74M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2161014	NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)	PGAM2, DBNL (K46E)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2160937	NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)	PGAM2, DBNL +1 more (T84S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2160629	NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)	PGAM2, DBNL (R65C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2158095	NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)	DBNL, PGAM2 (F52S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2146515	NM_001014436.3(DBNL):c.*3913C>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2145181	NM_000290.4(PGAM2):c.369G>A (p.Pro123=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2143015	NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)	PGAM2, DBNL (R5C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2140958	NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)	LOC129998341, PGAM2 +1 more (R162Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2140727	NM_001014436.3(DBNL):c.*4191G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2136504	NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)	PGAM2, DBNL (R10Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2136503	NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)	PGAM2, DBNL (E154K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2136502	NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)	DBNL, PGAM2 (R180*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2101468	NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)	DBNL, PGAM2 (A42V)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2076137	NM_000290.4(PGAM2):c.257G>A (p.Arg86His)	PGAM2, DBNL +1 more (R86H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2069168	NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)	DBNL, PGAM2 (K225Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 2068816	NM_000290.4(PGAM2):c.222G>A (p.Thr74=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2060414	NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)	PGAM2, DBNL (R10W)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2059166	NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)	DBNL, PGAM2 (T238M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GUncertain significance
Select item 2057692	NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)	DBNL, PGAM2 (E36K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2055208	NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)	DBNL, LOC129998343 +1 more (W78*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2052994	NM_000290.4(PGAM2):c.350G>A (p.Arg117His)	DBNL, LOC129998342 +1 more (R117H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2042946	NM_000290.4(PGAM2):c.558C>T (p.His186=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2030700	NM_000290.4(PGAM2):c.160del (p.Ile54fs)	DBNL, PGAM2 (I54fs)	Deletion (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 2029326	NM_000290.4(PGAM2):c.15C>T (p.Arg5=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 2015223	NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)	DBNL, LOC129998343 +1 more (T84N)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 2010719	NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)	DBNL, PGAM2 (S31R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1987302	NM_000290.4(PGAM2):c.309G>A (p.Thr103=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1984572	NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)	DBNL, PGAM2 (I54T)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1983278	NM_000290.4(PGAM2):c.504C>T (p.Asn168=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1982378	NM_001014436.3(DBNL):c.*4100G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1982149	NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)	DBNL, PGAM2 (N17K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1980434	NM_000290.4(PGAM2):c.183G>A (p.Lys61=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1979306	NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)	DBNL, PGAM2 (N20T)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1936561	NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)	DBNL, LOC129998341 +1 more (W167C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1936304	NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)	DBNL, LOC129998343 +1 more (R83C)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1926608	NM_001014436.3(DBNL):c.*3899C>T	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1909487	NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)	DBNL, PGAM2 (G199W)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1903908	NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)	DBNL, LOC129998342 +1 more (D120G)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1897022	NM_000290.4(PGAM2):c.714G>A (p.Thr238=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1669450	NM_000290.4(PGAM2):c.489C>T (p.Ala163=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1602236	NM_000290.4(PGAM2):c.363C>T (p.Ile121=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GLikely benign
Select item 1593537	NM_000290.4(PGAM2):c.381C>T (p.Asp127=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1578507	NM_001014436.3(DBNL):c.*4101G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1549388	NM_001014436.3(DBNL):c.*3905G>A	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1424881	NM_001014436.3(DBNL):c.*2021C>T	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1421162	NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys)	DBNL, PGAM2 (E13K)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1392561	NM_000290.4(PGAM2):c.16C>G (p.Leu6Val)	DBNL, PGAM2 (L6V)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1380884	NM_000290.4(PGAM2):c.515T>G (p.Val172Gly)	DBNL, LOC129998341 +1 more (V172G)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1380227	NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser)	DBNL, PGAM2 (G178S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1370191	NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)	DBNL, LOC129998342 +1 more (P123R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1125657	NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1081092	NM_000290.4(PGAM2):c.90G>A (p.Leu30=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GLikely benign
Select item 1073237	NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)	DBNL, LOC129998342 +1 more (Q111*)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GPathogenic
Select item 1060608	NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)	DBNL, PGAM2 (A252D)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1059765	NM_001014436.3(DBNL):c.*4194G>A	PGAM2, DBNL	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1058779	NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)	DBNL, PGAM2 (L182P)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1015223	NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)	DBNL, PGAM2 (R240Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 1004776	NM_000290.4(PGAM2):c.19G>A (p.Val7Met)	DBNL, PGAM2 (V7M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 966969	NM_000290.4(PGAM2):c.194G>A (p.Arg65His)	DBNL, PGAM2 (R65H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 959333	NM_000290.4(PGAM2):c.244G>A (p.Val82Met)	DBNL, LOC129998343 +1 more (V82M)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 947508	NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)	PGAM2, DBNL +1 more (P122L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 943301	NM_000290.4(PGAM2):c.62G>A (p.Arg21His)	DBNL, PGAM2 (R21H)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911382	NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)	DBNL, PGAM2 (T152I)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 911381	NM_000290.4(PGAM2):c.480T>C (p.Ile160=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911380	NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)	DBNL, LOC129998341 +1 more (W167C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 911379	NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)	PGAM2, DBNL +1 more (I171L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911378	NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)	DBNL, PGAM2 (R191W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 909252	NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)	DBNL, PGAM2 (K39Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 908404	NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)	DBNL, LOC129998343 +1 more (W78R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance

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