ClinVar for MedGen (Select 414536) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065803	NM_002633.3(PGM1):c.980G>C (p.Gly327Ala)	PGM1 (G130A +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3005074	NM_002633.3(PGM1):c.1029-19T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2992172	NM_002633.3(PGM1):c.540G>A (p.Lys180=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2981752	NM_002633.3(PGM1):c.648C>T (p.Asn216=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2971534	NM_002633.3(PGM1):c.1464+9A>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2962490	NM_002633.3(PGM1):c.1233C>T (p.Asp411=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2920589	NM_002633.3(PGM1):c.108G>A (p.Ala36=)	PGM1, LOC129930668	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2915340	NM_002633.3(PGM1):c.753C>T (p.Cys251=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2903466	NM_002633.3(PGM1):c.759T>C (p.Pro253=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2902936	NM_002633.3(PGM1):c.903G>A (p.Gly301=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2898932	NM_002633.3(PGM1):c.557-11del	PGM1	Deletion (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2897490	NM_002633.3(PGM1):c.123G>A (p.Gln41=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2893534	NM_002633.3(PGM1):c.1293G>A (p.Glu431=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2887691	NM_002633.3(PGM1):c.929T>C (p.Val310Ala)	PGM1 (V310A +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2887266	NM_002633.3(PGM1):c.156G>C (p.Arg52=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2886380	NM_002633.3(PGM1):c.1299G>A (p.Val433=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2866723	NM_002633.3(PGM1):c.683-6A>G	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2821223	NM_002633.3(PGM1):c.51G>C (p.Pro17=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2809146	NM_002633.3(PGM1):c.90G>A (p.Gln30=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2792756	NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)	PGM1 (R136fs +2 more)	Duplication (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2788593	NM_002633.3(PGM1):c.1280+12C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2770708	NM_002633.3(PGM1):c.1281-5T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2765205	NM_002633.3(PGM1):c.1145-10C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2742452	NM_002633.3(PGM1):c.1524G>T (p.Gly508=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2741402	NM_002633.3(PGM1):c.336C>T (p.Ile112=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2741013	NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)	LOC129930668, PGM1 (K8N)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2740429	NM_002633.3(PGM1):c.300C>G (p.Ser100=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2729626	NM_002633.3(PGM1):c.180C>T (p.Gly60=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-related condition +1 more	GLikely benign
Select item 2726627	NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)	PGM1 (G171E +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2724529	NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)	PGM1 (G107L +1 more)	Indel (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2716073	NM_002633.3(PGM1):c.1281-14G>A	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2706472	NM_002633.3(PGM1):c.1209C>A (p.Ala403=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2699106	NM_002633.3(PGM1):c.399T>A (p.Ile133=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2696539	NM_002633.3(PGM1):c.1500del (p.Ile500fs)	PGM1 (I518fs +2 more)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2694908	NM_002633.3(PGM1):c.1191C>A (p.Ala397=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2693757	NM_002633.3(PGM1):c.1431C>T (p.Ser477=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2690669	NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)	PGM1 (G230E +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2581183	NM_002633.3(PGM1):c.87_94del (p.Phe29fs)	LOC129930668, PGM1 (F29fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2434675	NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)	PGM1 (G183R +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2431718	NM_002633.3(PGM1):c.1600-523G>A	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2424505	NC_000001.10:g.(?_64059160)_(64059425_?)dup	PGM1	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2416157	NM_002633.3(PGM1):c.1281-15C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2414408	NM_002633.3(PGM1):c.618T>C (p.Ser206=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2414398	NM_002633.3(PGM1):c.682+20C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2202765	NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)	PGM1 (G291R +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 2202126	NM_002633.3(PGM1):c.1464+14_1464+15delinsTA	PGM1	Indel (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2201999	NM_002633.3(PGM1):c.1422T>C (p.Phe474=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2201057	NM_002633.3(PGM1):c.1145-11C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2200893	NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)	PGM1 (A241T +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2199995	NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)	PGM1 (N283S +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2198909	NM_002633.3(PGM1):c.410-18T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2198320	NM_002633.3(PGM1):c.1599+6G>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2189811	NM_002633.3(PGM1):c.873+5G>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2189622	NM_002633.3(PGM1):c.606C>G (p.Ile202Met)	PGM1 (I202M +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2186264	NM_002633.3(PGM1):c.1530C>T (p.Ala510=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2182918	NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)	PGM1 (Y353C +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2180211	NM_002633.3(PGM1):c.120C>G (p.Ile40Met)	LOC129930668, PGM1 (I40M)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2171325	NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)	LOC129930668, PGM1 (S45F)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2166901	NM_002633.3(PGM1):c.1239C>T (p.Leu413=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2166671	NM_002633.3(PGM1):c.1145-9C>G	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2165423	NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)	PGM1 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2163043	NM_002633.3(PGM1):c.60C>T (p.Ser20=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2162299	NM_002633.3(PGM1):c.723C>T (p.Leu241=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2161847	NM_002633.3(PGM1):c.729C>T (p.Ala243=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2160644	NM_002633.3(PGM1):c.246G>A (p.Gly82=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2159897	NM_002633.3(PGM1):c.980G>T (p.Gly327Val)	PGM1 (G345V +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2158720	NM_002633.3(PGM1):c.874-6C>A	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2156825	NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)	PGM1 (T399A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155662	NM_002633.3(PGM1):c.243C>T (p.Asn81=)	LOC129930669, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2151877	NM_002633.3(PGM1):c.119del (p.Ile40fs)	LOC129930668, PGM1 (I40fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2149215	NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)	PGM1 (R311* +2 more)	Single nucleotide variant (nonsense)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 2146994	NM_002633.3(PGM1):c.1401T>A (p.Thr467=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2142856	NM_002633.3(PGM1):c.1599+5C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2142523	NM_002633.3(PGM1):c.874-5C>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2140956	NM_002633.3(PGM1):c.246+20_246+21delinsAA	PGM1, LOC129930669	Indel (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2131407	NM_002633.3(PGM1):c.1280+22dup	PGM1	Duplication (intron variant)	PGM1-congenital disorder of glycosylation	GBenign
Select item 2127121	NM_002633.3(PGM1):c.1145-6C>G	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2125689	NM_002633.3(PGM1):c.574G>A (p.Val192Ile)	PGM1 (V192I +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2124441	NM_002633.3(PGM1):c.414T>C (p.Pro138=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2121302	NM_002633.3(PGM1):c.1464+19G>C	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2108026	NM_002633.3(PGM1):c.105C>T (p.Tyr35=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2107107	NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)	PGM1 (E274G +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2094063	NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)	PGM1 (A143G +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2092825	NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)	PGM1 (G526E +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2085128	NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)	PGM1 (S175F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082775	NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)	LOC129930668, PGM1 (Q13P)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2078056	NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)	PGM1 (D519N +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2077737	NM_002633.3(PGM1):c.246+8A>G	LOC129930669, PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2073951	NM_002633.3(PGM1):c.414T>G (p.Pro138=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2071225	NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)	PGM1 (V525I +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2070869	NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)	PGM1 (L205V +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2069894	NM_002633.3(PGM1):c.1044A>C (p.Thr348=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2069140	NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)	LOC129930668, PGM1 (I40T)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2064815	NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)	PGM1 (N529Y +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2062084	NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)	PGM1 (G400S +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2061399	NM_002633.3(PGM1):c.981G>A (p.Gly327=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2054172	NM_002633.3(PGM1):c.168G>C (p.Thr56=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2049985	NM_002633.3(PGM1):c.410-11T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 2044266	NM_002633.3(PGM1):c.261T>C (p.Val87=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2041384	NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)	PGM1 (F257S +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GUncertain significance

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