GLOD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	BHLHA9, CRK +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 154410	GRCh38/hg38 17p13.3(chr17:186959-969740)x1	GEMIN4, GLOD4 +39 more	Copy number loss	See cases	GUncertain significance
Select item 59543	GRCh38/hg38 17p13.3(chr17:193307-1376276)x1	ABR, ABR-AS1 +56 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	ABR, ABR-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	ABR, ABR-AS1 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 60095	GRCh38/hg38 17p13.3(chr17:258417-770280)x3	GEMIN4, GLOD4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 60096	GRCh38/hg38 17p13.3(chr17:279611-848014)x3	GEMIN4, GLOD4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 147604	GRCh38/hg38 17p13.3(chr17:333871-880361)x3	GEMIN4, GLOD4 +33 more	Copy number gain	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 147603	GRCh38/hg38 17p13.3(chr17:445331-823474)x3	GEMIN4, GLOD4 +23 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148727	GRCh38/hg38 17p13.3(chr17:523549-1311896)x1	ABR, ABR-AS1 +41 more	Copy number loss	See cases	GLikely benign
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	ABR, ABR-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 151508	GRCh38/hg38 17p13.3(chr17:722176-775586)x3	GEMIN4, GLOD4 +8 more	Copy number gain	See cases	GLikely benign
Select item 147864	GRCh38/hg38 17p13.3(chr17:759449-999134)x3	GLOD4, LOC101927727 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2617554	NM_016080.4(GLOD4):c.835A>G (p.Met279Val)	GLOD4 (M261V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311398	NM_016080.4(GLOD4):c.814A>G (p.Ser272Gly)	GLOD4 (S243G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244144	NM_016080.4(GLOD4):c.805C>A (p.Pro269Thr)	GLOD4 (P231T +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526358	NM_016080.4(GLOD4):c.802G>T (p.Asp268Tyr)	GLOD4 (D212Y +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350578	NM_016080.4(GLOD4):c.772G>T (p.Asp258Tyr)	GLOD4 (D273Y +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214407	NM_016080.4(GLOD4):c.598G>C (p.Gly200Arg)	GLOD4 (G200R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545502	NM_016080.4(GLOD4):c.533C>T (p.Ala178Val)	GLOD4 (A178V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227249	NM_016080.4(GLOD4):c.500A>G (p.Asp167Gly)	GLOD4 (D111G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290813	NM_016080.4(GLOD4):c.417A>C (p.Leu139Phe)	GLOD4 (L130F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375920	NM_016080.4(GLOD4):c.412G>C (p.Val138Leu)	GLOD4 (V138L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405507	NM_016080.4(GLOD4):c.395T>C (p.Leu132Pro)	GLOD4 (L123P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2608880	NM_016080.4(GLOD4):c.306G>C (p.Lys102Asn)	GLOD4 (K46N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508424	NM_016080.4(GLOD4):c.205G>A (p.Ala69Thr)	GLOD4 (A13T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530255	NM_016080.4(GLOD4):c.76G>T (p.Val26Phe)	GLOD4 (V26F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519444	NM_016080.4(GLOD4):c.23A>G (p.His8Arg)	GLOD4 (H8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252146	NM_018146.4(MRM3):c.157G>C (p.Ala53Pro)	GLOD4, MRM3 (A114G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3063481	GRCh37/hg19 17p13.3(chr17:141345-699175)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684827	GRCh37/hg19 17p13.3(chr17:399878-714173)x3	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2571006	GRCh37/hg19 17p13.3(chr17:65445-695309)x1	GEMIN4, GLOD4 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	HIC1, GEMIN4 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	TIMM22, GEMIN4 +26 more	Deletion	not provided	GPathogenic
Select item 2426762	NC_000017.10:g.(?_505015)_(722805_?)dup	GEMIN4, GLOD4 +4 more	Duplication	not provided	GUncertain significance
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	INPP5K, MIR22 +22 more	Deletion	not provided	GUncertain significance
Select item 1809330	GRCh37/hg19 17p13.3(chr17:665031-831589)x3	GLOD4, MRM3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808929	GRCh37/hg19 17p13.3(chr17:488606-678478)x3	GEMIN4, GLOD4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808815	GRCh37/hg19 17p13.3(chr17:503526-735311)x4	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1808560	GRCh37/hg19 17p13.3(chr17:504459-734664)x4	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807894	GRCh37/hg19 17p13.3(chr17:489311-831589)x4	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1526557	GRCh37/hg19 17p13.3(chr17:124894-745738)	GEMIN4, GLOD4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1341050	GRCh37/hg19 17p13.3(chr17:504977-735029)x3	TLCD3A, VPS53 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340852	GRCh37/hg19 17p13.3(chr17:642556-713391)x1	GEMIN4, GLOD4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340285	GRCh37/hg19 17p13.3(chr17:667244-1139698)x1	ABR, GLOD4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340176	GRCh37/hg19 17p13.3(chr17:626198-899199)x3	GEMIN4, GLOD4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 980152	GRCh37/hg19 17p13.3(chr17:124892-745738)x3	GEMIN4, GLOD4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980150	GRCh37/hg19 17p13.3(chr17:611025-832164)x3	GLOD4, NXN +4 more	Copy number gain	not provided	GUncertain significance
Select item 980149	GRCh37/hg19 17p13.3(chr17:525-833922)x4	DOC2B, GEMIN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980148	GRCh37/hg19 17p13.3(chr17:111222-964297)x3	ABR, GEMIN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815878	GRCh37/hg19 17p13.3(chr17:489310-811817)x4	NXN, TLCD3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 815877	GRCh37/hg19 17p13.3(chr17:279703-802757)x3	GEMIN4, GLOD4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815876	GRCh37/hg19 17p13.3(chr17:279703-1154012)x3	ABR, GEMIN4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815875	GRCh37/hg19 17p13.3(chr17:525-969410)x3	ABR, DOC2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 689151	GRCh37/hg19 17p13.3(chr17:650850-769970)x3	GEMIN4, GLOD4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688123	GRCh37/hg19 17p13.3(chr17:504458-734664)x4	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686486	GRCh37/hg19 17p13.3(chr17:55804-1310807)x1	NXN, RFLNB +12 more	Copy number loss	not provided	GUncertain significance
Select item 686412	GRCh37/hg19 17p13.3(chr17:266710-734664)x3	GEMIN4, GLOD4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686362	GRCh37/hg19 17p13.3(chr17:464831-898473)x3	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686221	GRCh37/hg19 17p13.3(chr17:611025-831508)x3	GEMIN4, GLOD4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685799	GRCh37/hg19 17p13.3(chr17:39027-843700)x3	GEMIN4, GLOD4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685182	GRCh37/hg19 17p13.3(chr17:525-1225474)x1	ABR, BHLHA9 +12 more	Copy number loss	not provided	GUncertain significance
Select item 635883	Single allele	GEMIN4, GLOD4 +6 more	Deletion	Growth abnormality	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564382	GRCh37/hg19 17p13.3(chr17:683545-1140912)x1	MRM3, GLOD4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564381	GRCh37/hg19 17p13.3(chr17:458616-764664)x1	MRM3, TLCD3A +4 more	Copy number loss	not provided	GUncertain significance
Select item 564379	GRCh37/hg19 17p13.3(chr17:141235-1227927)x3	ABR, BHLHA9 +11 more	Copy number gain	not provided	GPathogenic
Select item 564378	GRCh37/hg19 17p13.3(chr17:15498-699175)x1	DOC2B, GEMIN4 +7 more	Copy number loss	not provided	GUncertain significance

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