9726[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878345	NM_005609.4(PYGM):c.*80G>A	PYGM	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1223235	NM_005609.4(PYGM):c.*31G>A	PYGM	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 388424	NM_005609.4(PYGM):c.*11C>T	PYGM	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 370492	NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)	PYGM	Single nucleotide variant (stop lost)	Glycogen storage disease, type V	GLikely pathogenic
Select item 558540	NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)	PYGM	Single nucleotide variant (stop lost)	Glycogen storage disease, type V	GUncertain significance
Select item 2171764	NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)	PYGM (I842N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2435340	NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)	PYGM (E752K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 878346	NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)	PYGM (D751V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2435339	NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)	PYGM (D751N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1583803	NM_005609.4(PYGM):c.2514G>A (p.Pro838=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2416039	NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)	PYGM (P750A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2197078	NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)	PYGM (R746C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2147361	NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)	PYGM (R834G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 2078277	NM_005609.4(PYGM):c.2496C>T (p.Arg832=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 950481	NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)	PYGM (R744C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 1566855	NM_005609.4(PYGM):c.2493C>T (p.Ser831=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2824037	NM_005609.4(PYGM):c.2490T>C (p.Pro830=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1151158	NM_005609.4(PYGM):c.2487G>A (p.Glu829=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1947399	NM_005609.4(PYGM):c.2469G>A (p.Arg823=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3150215	NM_005609.4(PYGM):c.2468G>A (p.Arg823Gln)	PYGM (R823Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064648	NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)	PYGM (R735W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1548355	NM_005609.4(PYGM):c.2466C>T (p.Ala822=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2435326	NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)	PYGM (A734V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 665984	NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp)	PYGM (A734D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1088126	NM_005609.4(PYGM):c.2463T>C (p.Tyr821=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2435321	NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)	PYGM (Y733C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2414830	NM_005609.4(PYGM):c.2460G>A (p.Gln820=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2112783	NM_005609.4(PYGM):c.2457C>T (p.Ala819=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1140027	NM_005609.4(PYGM):c.2457C>G (p.Ala819=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1099762	NM_005609.4(PYGM):c.2451C>T (p.Thr817=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 305263	NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn)	PYGM (T817N +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1332748	NM_005609.4(PYGM):c.2448dup (p.Thr817fs)	PYGM (T729fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 1124783	NM_005609.4(PYGM):c.2448C>A (p.Arg816=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 95297	NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	PYGM (R816H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 281389	NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)	PYGM (R816C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +3 more	GConflicting classifications of pathogenicity
Select item 2731012	NM_005609.4(PYGM):c.2445C>T (p.Asp815=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 953980	NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)	PYGM (S813P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2748732	NM_005609.4(PYGM):c.2433G>A (p.Lys811=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3336042	NM_005609.4(PYGM):c.2430C>T (p.Gly810=)	PYGM	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2502889	NM_005609.4(PYGM):c.2427T>G (p.Ser809=)	PYGM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1609316	NM_005609.4(PYGM):c.2427T>C (p.Ser809=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1079614	NM_005609.4(PYGM):c.2424C>T (p.Thr808=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1983211	NM_005609.4(PYGM):c.2421C>G (p.Ala807=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1981624	NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)	PYGM (I718T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1671263	NM_005609.4(PYGM):c.2412G>C (p.Arg804=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 305264	NM_005609.4(PYGM):c.2412G>A (p.Arg804=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GConflicting classifications of pathogenicity
Select item 2049008	NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)	PYGM (R716Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1306482	NM_005609.4(PYGM):c.2411G>C (p.Arg804Pro)	PYGM (R716P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095724	NM_005609.4(PYGM):c.2406G>C (p.Val802=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 511927	NM_005609.4(PYGM):c.2400G>A (p.Arg800=)	PYGM	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2146017	NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)	PYGM (R712Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 3017629	NM_005609.4(PYGM):c.2398C>A (p.Arg800=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 305265	NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)	PYGM (R800W +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1101010	NM_005609.4(PYGM):c.2397G>A (p.Thr799=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 878936	NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)	PYGM (T799M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2693701	NM_005609.4(PYGM):c.2394del (p.Glu797_Trp798insTer)	PYGM	Deletion (nonsense)	Glycogen storage disease, type V	GPathogenic
Select item 526617	NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	PYGM (W798R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GPathogenic
Select item 2312	NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	PYGM (W798R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 305266	NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)	PYGM (E797Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1066872	NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)	PYGM (E709fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 1114828	NM_005609.4(PYGM):c.2385A>C (p.Pro795=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1979015	NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)	PYGM (P707Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 195499	NM_005609.4(PYGM):c.2382C>T (p.Asn794=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V +2 more	GBenign/Likely benign
Select item 553507	NM_005609.4(PYGM):c.2380-1G>A	PYGM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2125854	NM_005609.4(PYGM):c.2380-2A>G	PYGM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 1664468	NM_005609.4(PYGM):c.2380-6C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 1897526	NM_005609.4(PYGM):c.2380-7C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2848028	NM_005609.4(PYGM):c.2380-8A>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2917036	NM_005609.4(PYGM):c.2380-11T>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2148724	NM_005609.4(PYGM):c.2380-14C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2911440	NM_005609.4(PYGM):c.2380-15C>G	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2911464	NM_005609.4(PYGM):c.2380-16T>C	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 1223430	NM_005609.4(PYGM):c.2379+43C>T	PYGM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009241	NM_005609.4(PYGM):c.2379+11C>T	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 2141751	NM_005609.4(PYGM):c.2379+11C>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 1542874	NM_005609.4(PYGM):c.2379+10C>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 1102681	NM_005609.4(PYGM):c.2379+8G>A	PYGM	Single nucleotide variant (intron variant)	Glycogen storage disease, type V	GLikely benign
Select item 1323509	NM_005609.4(PYGM):c.2379+2_2379+3delinsAT	PYGM	Indel (splice donor variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 2678138	NM_005609.4(PYGM):c.2379+1G>A	PYGM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type V	GLikely pathogenic
Select item 2173784	NM_005609.4(PYGM):c.2376C>T (p.Tyr792=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 652494	NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)	PYGM (Y704C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V +1 more	GUncertain significance
Select item 1036835	NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)	PYGM (L703F +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2764930	NM_005609.4(PYGM):c.2371T>C (p.Leu791=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2083637	NM_005609.4(PYGM):c.2370C>T (p.Ala790=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 2014527	NM_005609.4(PYGM):c.2370del (p.Leu791fs)	PYGM (L703fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic
Select item 2200871	NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)	PYGM (A702T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1154654	NM_005609.4(PYGM):c.2367C>T (p.Ser789=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1051523	NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)	PYGM (S701R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1074725	NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)	PYGM (V700fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type V	GPathogenic/Likely pathogenic
Select item 1103103	NM_005609.4(PYGM):c.2364C>T (p.Val788=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1618049	NM_005609.4(PYGM):c.2361A>G (p.Lys787=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1161855	NM_005609.4(PYGM):c.2358G>A (p.Glu786=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 3240247	NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter)	PYGM (E698* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V	GLikely pathogenic
Select item 799212	NM_005609.4(PYGM):c.2355G>A (p.Gln785=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 371094	NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	PYGM (C784* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type V +1 more	GPathogenic/Likely pathogenic
Select item 2044571	NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)	PYGM (I694T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 2744681	NM_005609.4(PYGM):c.2343C>T (p.Tyr781=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign
Select item 1209784	NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys)	PYGM (Y693C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1420217	NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys)	PYGM (E779K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type V	GUncertain significance
Select item 1142802	NM_005609.4(PYGM):c.2334T>C (p.Tyr778=)	PYGM	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type V	GLikely benign

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