2632[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1020

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 145882	GRCh38/hg38 3p12.2(chr3:80214687-83388676)x3	GBE1, LINC02008 +16 more	Copy number gain	See cases	GLikely benign
Select item 57759	GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3	CADM2, CADM2-AS1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 346774	NM_000158.4(GBE1):c.*598G>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346775	NM_000158.4(GBE1):c.*558T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346776	NM_000158.4(GBE1):c.*555G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 903581	NM_000158.4(GBE1):c.*545G>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 899979	NM_000158.4(GBE1):c.*523T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GBenign
Select item 899980	NM_000158.4(GBE1):c.*494A>T	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GBenign
Select item 346777	NM_000158.4(GBE1):c.*494A>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 899981	NM_000158.4(GBE1):c.*468G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 346778	NM_000158.4(GBE1):c.*466G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 901149	NM_000158.4(GBE1):c.*460C>T	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 346779	NM_000158.4(GBE1):c.*395A>G	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 901150	NM_000158.4(GBE1):c.*388T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 346780	NM_000158.4(GBE1):c.*308C>T	GBE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 901695	NM_000158.4(GBE1):c.*226T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346781	NM_000158.4(GBE1):c.*176G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +2 more	GBenign
Select item 346782	NM_000158.4(GBE1):c.*152C>A	GBE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 903646	NM_000158.4(GBE1):c.*44T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 649642	NC_000003.12:g.(?_81490387)_(81761537_?)del	GBE1, LOC123002309 +4 more	Deletion	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic
Select item 584104	NC_000003.12:g.(?_81490387)_(81705633_?)del	GBE1, LOC129937076	Deletion	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2442219	NM_000158.4(GBE1):c.*12T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 382620	NM_000158.4(GBE1):c.*5G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1304929	NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)	GBE1	Single nucleotide variant (stop lost)	not specified +3 more	GUncertain significance
Select item 2160117	NM_000158.4(GBE1):c.2106T>C (p.Asn702=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 764278	NM_000158.4(GBE1):c.2103G>A (p.Pro701=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1343403	NM_000158.4(GBE1):c.2102C>T (p.Pro701Leu)	GBE1 (P701L)	Single nucleotide variant (missense variant)	Polyneuropathy	GUncertain significance
Select item 989802	NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)	GBE1 (D699Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 1449432	NM_000158.4(GBE1):c.2093T>C (p.Val698Ala)	GBE1 (V698A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1141281	NM_000158.4(GBE1):c.2088G>A (p.Gln696=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 1053439	NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	GBE1 (I694N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
Select item 1162958	NM_000158.4(GBE1):c.2080A>G (p.Ile694Val)	GBE1 (I694V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance
Select item 558870	NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	GBE1 (A692T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
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 2067778	NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)	GBE1 (S689R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1153484	NM_000158.4(GBE1):c.2067C>T (p.Ser689=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 1093146	NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1341384	NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)	GBE1 (Y686H)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GUncertain significance
Select item 1647067	NM_000158.4(GBE1):c.2053-4G>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1561162	NM_000158.4(GBE1):c.2053-4G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1080666	NM_000158.4(GBE1):c.2053-4G>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +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 786881	NM_000158.4(GBE1):c.2053-10T>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 2924487	NM_000158.4(GBE1):c.2053-19C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1183838	NM_000158.4(GBE1):c.2053-3081dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294021	NM_000158.4(GBE1):c.2053-3194A>G	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2635394	NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATTACAGGT	GBE1	Indel (intron variant)	GBE1-related disorder +1 more	GLikely pathogenic
Select item 225145	NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	GBE1	Indel (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1102188	NM_000158.4(GBE1):c.2053-3351G>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 1968277	NM_000158.4(GBE1):c.2053-3354G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1553275	NM_000158.4(GBE1):c.2053-3358G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 3039033	NM_000158.4(GBE1):c.2053-3364G>A	GBE1	Single nucleotide variant (intron variant)	GBE1-related disorder	GLikely benign
Select item 1201274	NM_000158.4(GBE1):c.2053-3382dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294018	NM_000158.4(GBE1):c.2053-3372del	GBE1	Deletion (intron variant)	not provided	GBenign
Select item 1179545	NM_000158.4(GBE1):c.2053-3506T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178473	NM_000158.4(GBE1):c.2052+295T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252855	NM_000158.4(GBE1):c.2052+51_2052+52insTTC	GBE1	Insertion (intron variant)	not provided	GBenign
Select item 2932764	NM_000158.4(GBE1):c.2052+20T>A	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2929580	NM_000158.4(GBE1):c.2052+20T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 658997	NC_000003.12:g.(?_81499090)_(81761537_?)del	GBE1, LOC123002309 +3 more	Deletion	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic
Select item 2930456	NM_000158.4(GBE1):c.2052+19A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1501703	NM_000158.4(GBE1):c.2052+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 1516218	NM_000158.4(GBE1):c.2052+1G>T	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 1490966	NM_000158.4(GBE1):c.2052+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2935907	NM_000158.4(GBE1):c.2040C>T (p.Pro680=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2336718	NM_000158.4(GBE1):c.2036G>T (p.Arg679Leu)	GBE1 (R679L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312010	NM_000158.4(GBE1):c.2036G>A (p.Arg679His)	GBE1 (R679H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance
Select item 346783	NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	GBE1 (R679C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GConflicting classifications of pathogenicity
Select item 1152126	NM_000158.4(GBE1):c.2028T>C (p.His676=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 235560	NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	GBE1 (A673T)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GBenign/Likely benign
Select item 3280894	NM_000158.4(GBE1):c.2016G>C (p.Glu672Asp)	GBE1 (E672D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733064	NM_000158.4(GBE1):c.2016G>A (p.Glu672=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GBenign
Select item 1977757	NM_000158.4(GBE1):c.2011del (p.Ser671fs)	GBE1 (S671fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 1501948	NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu)	GBE1 (F670L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1112260	NM_000158.4(GBE1):c.2004C>T (p.Asp668=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1048821	NM_000158.4(GBE1):c.2004C>A (p.Asp668Glu)	GBE1 (D668E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125593	NM_000158.4(GBE1):c.2001T>A (p.Thr667=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 753195	NM_000158.4(GBE1):c.1995C>T (p.His665=)	GBE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1607809	NM_000158.4(GBE1):c.1992C>T (p.Asp664=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1306311	NM_000158.4(GBE1):c.1992C>A (p.Asp664Glu)	GBE1 (D664E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1099190	NM_000158.4(GBE1):c.1989G>A (p.Leu663=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 526615	NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)	GBE1 (L663P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
Select item 1558953	NM_000158.4(GBE1):c.1986A>G (p.Arg662=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +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 IV, classic hepatic +1 more	GLikely benign
Select item 1462132	NM_000158.4(GBE1):c.1977G>A (p.Gly659=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 2059067	NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)	GBE1 (Y657C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1081863	NM_000158.4(GBE1):c.1965G>A (p.Ala655=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 1085098	NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)	GBE1 (A655V)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 2199148	NM_000158.4(GBE1):c.1962A>G (p.Ala654=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +1 more	GLikely benign
Select item 1457849	NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs)	GBE1 (A654fs)	Deletion (frameshift variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic
Select item 1117138	NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)	GBE1 (A654T)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 1617006	NM_000158.4(GBE1):c.1950A>G (p.Leu650=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 1619403	NM_000158.4(GBE1):c.1941A>G (p.Lys647=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 3098842	NM_000158.4(GBE1):c.1935A>T (p.Lys645Asn)	GBE1 (K645N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 11