ClinVar for Gene (Select 5236) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306006	NM_002633.3(PGM1):c.986G>T (p.Arg329Leu)	PGM1 (R329L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306005	NM_002633.3(PGM1):c.1133G>T (p.Ser378Ile)	PGM1 (S181I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306004	NM_002633.3(PGM1):c.839A>G (p.Glu280Gly)	PGM1 (E83G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306003	NM_002633.3(PGM1):c.193T>G (p.Phe65Val)	LOC129930668, PGM1 (F65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306002	NM_002633.3(PGM1):c.155G>C (p.Arg52Pro)	LOC129930668, PGM1 (R52P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3247792	NC_000001.10:g.(?_64119983)_(64125346_?)del	PGM1	Deletion	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 3211847	NM_002633.3(PGM1):c.1664G>C (p.Arg555Pro)	PGM1 (R358P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211846	NM_002633.3(PGM1):c.1600G>A (p.Val534Ile)	PGM1 (V552I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3211845	NM_002633.3(PGM1):c.130A>G (p.Ile44Val)	LOC129930668, PGM1 (I44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3063010	GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1	ALG6, CACHD1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3058157	NM_002633.3(PGM1):c.1389C>T (p.Asp463=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-related disorder	GLikely benign
Select item 3048705	NM_002633.3(PGM1):c.682+5A>G	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 3042275	NM_002633.3(PGM1):c.1600-505T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 3041713	NM_002633.3(PGM1):c.247-5929T>C	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-related disorder	GLikely benign
Select item 3036870	NM_002633.3(PGM1):c.1145-212A>G	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 3032150	NM_002633.3(PGM1):c.*9G>A	PGM1	Single nucleotide variant (3 prime UTR variant)	PGM1-related disorder	GLikely benign
Select item 3026655	NM_002633.3(PGM1):c.636T>C (p.Leu212=)	PGM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025824	NM_002633.3(PGM1):c.247-5872C>T	PGM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 disorder +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 2603424	NM_002633.3(PGM1):c.143A>G (p.Glu48Gly)	LOC129930668, PGM1 (E48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2573821	NM_002633.3(PGM1):c.1514G>A (p.Ser505Asn)	PGM1 (S308N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570728	NM_002633.3(PGM1):c.1186C>G (p.Leu396Val)	PGM1 (L199V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548643	NM_002633.3(PGM1):c.1393G>A (p.Val465Ile)	PGM1 (V268I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530790	NM_002633.3(PGM1):c.589A>G (p.Thr197Ala)	PGM1 (T215A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508485	NM_002633.3(PGM1):c.209C>T (p.Ala70Val)	PGM1 (A70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507626	NM_002633.3(PGM1):c.1493C>T (p.Ser498Phe)	PGM1 (S301F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2498037	NM_002633.3(PGM1):c.1144+3A>T	PGM1	Single nucleotide variant (intron variant)	not provided	GPathogenic/Likely pathogenic
Select item 2497778	NM_002633.3(PGM1):c.1214G>A (p.Arg405His)	PGM1 (R208H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484880	NM_002633.3(PGM1):c.1052C>A (p.Ala351Asp)	PGM1 (A369D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476057	NM_002633.3(PGM1):c.56C>G (p.Thr19Arg)	LOC129930668, PGM1 (T19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
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 2405750	NM_002633.3(PGM1):c.395A>G (p.Asn132Ser)	PGM1 (N150S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394686	NM_002633.3(PGM1):c.259G>A (p.Val87Ile)	PGM1 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389740	NM_002633.3(PGM1):c.158A>G (p.Gln53Arg)	LOC129930668, PGM1 (Q53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374090	NM_002633.3(PGM1):c.458C>T (p.Thr153Ile)	PGM1 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369665	NM_002633.3(PGM1):c.494T>C (p.Val165Ala)	PGM1 (V183A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358992	NM_002633.3(PGM1):c.1525A>T (p.Ser509Cys)	PGM1 (S312C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324788	NM_002633.3(PGM1):c.691C>T (p.Pro231Ser)	PGM1 (P249S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322359	NM_002633.3(PGM1):c.1624A>G (p.Ile542Val)	PGM1 (I560V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318298	NM_002633.3(PGM1):c.1123G>T (p.Gly375Trp)	PGM1 (G375W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304561	NM_002633.3(PGM1):c.244G>A (p.Gly82Arg)	LOC129930669, PGM1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300559	NM_002633.3(PGM1):c.721C>T (p.Leu241Phe)	PGM1 (L241F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287194	NM_002633.3(PGM1):c.191G>A (p.Arg64Gln)	LOC129930668, PGM1 (R64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236593	NM_002633.3(PGM1):c.23A>G (p.Lys8Arg)	LOC129930668, PGM1 (K8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218001	NM_002633.3(PGM1):c.1447A>G (p.Ser483Gly)	PGM1 (S501G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	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

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