ClinVar for MedGen (Select 6642) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233938	NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr)	GBE1 (N556Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2954378	NM_000158.4(GBE1):c.556-12T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2954185	NM_000158.4(GBE1):c.555+20A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2954142	NM_000158.4(GBE1):c.348dup (p.Leu117fs)	GBE1 (L117fs)	Duplication (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2953631	NM_000158.4(GBE1):c.1893G>A (p.Lys631=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2953389	NM_000158.4(GBE1):c.608_609del (p.His203fs)	GBE1 (H203fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2952729	NM_000158.4(GBE1):c.172_173del (p.Asn58fs)	GBE1 (N58fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2952179	NM_000158.4(GBE1):c.1437C>T (p.Ser479=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2952020	NM_000158.4(GBE1):c.1379del (p.Ile460fs)	GBE1 (I460fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2951796	NM_000158.4(GBE1):c.993-20A>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2951617	NM_000158.4(GBE1):c.1632G>C (p.Gly544=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2951342	NM_000158.4(GBE1):c.1281del (p.Gly429fs)	GBE1 (G429fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2951267	NM_000158.4(GBE1):c.1336-5T>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2951233	NM_000158.4(GBE1):c.1569del (p.Arg524fs)	GBE1 (R524fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2951135	NM_000158.4(GBE1):c.1542T>C (p.Asp514=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950811	NM_000158.4(GBE1):c.1203C>T (p.His401=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950808	NM_000158.4(GBE1):c.1237-19C>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950769	NM_000158.4(GBE1):c.1115del (p.Gly372fs)	GBE1 (G372fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2950768	NM_000158.4(GBE1):c.1608C>T (p.Leu536=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950758	NM_000158.4(GBE1):c.1804-16G>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950700	NM_000158.4(GBE1):c.1725T>C (p.Leu575=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950668	NM_000158.4(GBE1):c.993-17T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950657	NM_000158.4(GBE1):c.1188A>C (p.Ala396=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950545	NM_000158.4(GBE1):c.1548A>T (p.Gly516=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950519	NM_000158.4(GBE1):c.1491C>A (p.Ala497=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950099	NM_000158.4(GBE1):c.1581G>T (p.Thr527=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2950053	NM_000158.4(GBE1):c.1336-7dup	GBE1	Duplication (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949814	NM_000158.4(GBE1):c.1446+9A>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949611	NM_000158.4(GBE1):c.1374C>A (p.Gly458=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949600	NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)	GBE1 (G264A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2949566	NM_000158.4(GBE1):c.543A>G (p.Glu181=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949549	NM_000158.4(GBE1):c.429+9C>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949208	NM_000158.4(GBE1):c.441T>C (p.Thr147=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2949089	NM_000158.4(GBE1):c.143+20A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2948658	NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)	GBE1 (E271*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2948526	NM_000158.4(GBE1):c.143+19C>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947900	NM_000158.4(GBE1):c.783-11T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947827	NM_000158.4(GBE1):c.1336-9T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947678	NM_000158.4(GBE1):c.1108+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2947673	NM_000158.4(GBE1):c.82C>T (p.Leu28=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947533	NM_000158.4(GBE1):c.692-9dup	GBE1	Duplication (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947239	NM_000158.4(GBE1):c.1989G>T (p.Leu663=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947123	NM_000158.4(GBE1):c.1458G>A (p.Gly486=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2947077	NM_000158.4(GBE1):c.1155A>G (p.Val385=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2946702	NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)	GBE1 (Y535*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2946603	NM_000158.4(GBE1):c.915G>A (p.Gly305=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2946487	NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)	GBE1 (H367fs)	Insertion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2946318	NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)	GBE1 (S53R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 2946121	NM_000158.4(GBE1):c.1068T>C (p.Phe356=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2945949	NM_000158.4(GBE1):c.93C>G (p.Leu31=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2945833	NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)	GBE1 (S261R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2945422	NM_000158.4(GBE1):c.993-14C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2945239	NM_000158.4(GBE1):c.813A>G (p.Glu271=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2945229	NM_000158.4(GBE1):c.314-13T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2944894	NM_000158.4(GBE1):c.1934+2T>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2944676	NM_000158.4(GBE1):c.166T>C (p.Leu56=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2944612	NM_000158.4(GBE1):c.1803+19A>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2944577	NM_000158.4(GBE1):c.1570C>A (p.Arg524=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2943757	NM_000158.4(GBE1):c.430-9T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2943304	NM_000158.4(GBE1):c.1619-18A>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2943192	NM_000158.4(GBE1):c.48G>A (p.Ala16=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2943143	NM_000158.4(GBE1):c.1731C>T (p.Tyr577=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2943017	NM_000158.4(GBE1):c.1447-19A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2942782	NM_000158.4(GBE1):c.955C>G (p.His319Asp)	GBE1 (H319D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2942527	NM_000158.4(GBE1):c.993-17T>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2942178	NM_000158.4(GBE1):c.274del (p.Ala92fs)	GBE1 (A92fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2942132	NM_000158.4(GBE1):c.1693C>A (p.Arg565=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2942060	NM_000158.4(GBE1):c.430-18A>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2941847	NM_000158.4(GBE1):c.1108+10C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2941748	NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)	GBE1 (Y216*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2941457	NM_000158.4(GBE1):c.1935-2A>G	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2941233	NM_000158.4(GBE1):c.1237-19C>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2941183	NM_000158.4(GBE1):c.313+17A>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2940880	NM_000158.4(GBE1):c.314-1G>C	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2940328	NM_000158.4(GBE1):c.180A>C (p.Gly60=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939835	NM_000158.4(GBE1):c.2053-5C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939731	NM_000158.4(GBE1):c.1618+20A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939631	NM_000158.4(GBE1):c.1245A>G (p.Ser415=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939622	NM_000158.4(GBE1):c.2053-3350G>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939616	NM_000158.4(GBE1):c.2073G>T (p.Val691=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2939454	NM_000158.4(GBE1):c.992+14A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939410	NM_000158.4(GBE1):c.477G>T (p.Pro159=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939364	NM_000158.4(GBE1):c.1395A>G (p.Thr465=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939314	NM_000158.4(GBE1):c.1416G>A (p.Lys472=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939297	NM_000158.4(GBE1):c.691+8A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939279	NM_000158.4(GBE1):c.782+18T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2939073	NM_000158.4(GBE1):c.143+14C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938973	NM_000158.4(GBE1):c.1935-14C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938893	NM_000158.4(GBE1):c.90A>G (p.Arg30=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938793	NM_000158.4(GBE1):c.1422T>C (p.Ile474=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938754	NM_000158.4(GBE1):c.387G>A (p.Lys129=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938699	NM_000158.4(GBE1):c.313+16_313+17dup	GBE1	Duplication (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938423	NM_000158.4(GBE1):c.585G>A (p.Arg195=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938404	NM_000158.4(GBE1):c.1447-15C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938312	NM_000158.4(GBE1):c.666T>C (p.Asn222=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938265	NM_000158.4(GBE1):c.143+18C>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2938182	NM_000158.4(GBE1):c.1980T>C (p.His660=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2937926	NM_000158.4(GBE1):c.498T>C (p.Arg166=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2937640	NM_000158.4(GBE1):c.1373del (p.Gly458fs)	GBE1 (G458fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2937143	NM_000158.4(GBE1):c.1836G>A (p.Lys612=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign

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