OGFOD3[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	LOC130062057, LOC130062058 +54 more	Copy number gain	See cases	GUncertain significance
Select item 2608787	NM_024648.3(OGFOD3):c.824-1866C>A	OGFOD3 (L323M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204138	NM_024648.3(OGFOD3):c.824-1901A>G	OGFOD3 (H311R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373195	NM_024648.3(OGFOD3):c.824-1910C>T	OGFOD3 (P308L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204136	NM_024648.3(OGFOD3):c.824-1937G>C	OGFOD3 (G299A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204135	NM_024648.3(OGFOD3):c.824-1938G>C	OGFOD3 (G299R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479591	NM_024648.3(OGFOD3):c.824-1949G>T	OGFOD3 (S295I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244012	NM_024648.3(OGFOD3):c.824-1958C>T	OGFOD3 (P292L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536977	NM_024648.3(OGFOD3):c.824-1982G>A	OGFOD3 (C284Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204134	NM_024648.3(OGFOD3):c.824-1985C>A	OGFOD3 (S283Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204133	NM_024648.3(OGFOD3):c.824-1990G>A	OGFOD3 (M281I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409896	NM_024648.3(OGFOD3):c.824-1994G>A	OGFOD3 (R280Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204132	NM_024648.3(OGFOD3):c.824-1996C>A	OGFOD3 (F279L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514260	NM_024648.3(OGFOD3):c.806C>T (p.Thr269Met)	OGFOD3 (T269M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395821	NM_024648.3(OGFOD3):c.773G>A (p.Arg258Gln)	OGFOD3 (R258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316755	NM_024648.3(OGFOD3):c.769G>T (p.Gly257Trp)	OGFOD3 (G257W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538108	NM_024648.3(OGFOD3):c.713C>A (p.Ser238Tyr)	OGFOD3 (S238Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204130	NM_024648.3(OGFOD3):c.704C>G (p.Thr235Ser)	OGFOD3 (T235S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540316	NM_024648.3(OGFOD3):c.686C>T (p.Ala229Val)	OGFOD3 (A229V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302219	NM_024648.3(OGFOD3):c.650C>T (p.Thr217Met)	OGFOD3 (T217M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239038	NM_024648.3(OGFOD3):c.644A>G (p.Asn215Ser)	OGFOD3 (N215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336995	NM_024648.3(OGFOD3):c.638G>T (p.Arg213Leu)	OGFOD3 (R213L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204129	NM_024648.3(OGFOD3):c.544C>T (p.Arg182Trp)	OGFOD3 (R182W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248173	NM_024648.3(OGFOD3):c.496G>A (p.Gly166Arg)	OGFOD3 (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204128	NM_024648.3(OGFOD3):c.463G>C (p.Gly155Arg)	OGFOD3 (G155R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455345	NM_024648.3(OGFOD3):c.382G>A (p.Val128Ile)	OGFOD3 (V128I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465493	NM_024648.3(OGFOD3):c.373A>T (p.Ile125Phe)	OGFOD3 (I125F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483043	NM_024648.3(OGFOD3):c.371G>A (p.Arg124Gln)	OGFOD3 (R124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3204127	NM_024648.3(OGFOD3):c.329G>A (p.Arg110Lys)	OGFOD3 (R110K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355390	NM_024648.3(OGFOD3):c.325G>A (p.Gly109Ser)	OGFOD3 (G109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302218	NM_024648.3(OGFOD3):c.265C>T (p.Pro89Ser)	OGFOD3 (P89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400503	NM_024648.3(OGFOD3):c.227G>A (p.Arg76His)	OGFOD3 (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 777261	NM_024648.3(OGFOD3):c.147G>A (p.Leu49=)	OGFOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2593876	NM_024648.3(OGFOD3):c.98G>A (p.Arg33Gln)	OGFOD3 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212260	NM_024648.3(OGFOD3):c.95C>T (p.Pro32Leu)	OGFOD3 (P32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265719	NM_024648.3(OGFOD3):c.89G>A (p.Arg30Gln)	OGFOD3 (R30Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204131	NM_024648.3(OGFOD3):c.7C>T (p.Pro3Ser)	HEXD, LOC130062039 +1 more (P3S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564478	GRCh37/hg19 17q25.3(chr17:80243845-80374899)x1	SECTM1, UTS2R +3 more	Copy number loss	not provided	GLikely benign
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493587	GRCh37/hg19 17q25.3(chr17:80306702-80481025)x3	FOXK2, HEXD +6 more	Copy number gain	not provided	GLikely benign
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 66