OVOL1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 3303745	NM_004561.4(OVOL1):c.54C>G (p.Asn18Lys)	OVOL1 (N18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303746	NM_004561.4(OVOL1):c.98C>T (p.Pro33Leu)	OVOL1 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379570	NM_004561.4(OVOL1):c.133C>T (p.Arg45Trp)	OVOL1 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512459	NM_004561.4(OVOL1):c.134G>A (p.Arg45Gln)	OVOL1 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207500	NM_004561.4(OVOL1):c.136G>C (p.Glu46Gln)	OVOL1 (E46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641972	NM_004561.4(OVOL1):c.157G>A (p.Glu53Lys)	OVOL1 (E53K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3207501	NM_004561.4(OVOL1):c.232G>T (p.Val78Leu)	OVOL1 (V78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207502	NM_004561.4(OVOL1):c.304C>T (p.Arg102Cys)	OVOL1 (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207503	NM_004561.4(OVOL1):c.361C>T (p.Arg121Cys)	OVOL1 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366763	NM_004561.4(OVOL1):c.362G>A (p.Arg121His)	OVOL1 (R121H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320960	NM_004561.4(OVOL1):c.377C>T (p.Ala126Val)	OVOL1 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207504	NM_004561.4(OVOL1):c.424G>A (p.Asp142Asn)	OVOL1 (D142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207505	NM_004561.4(OVOL1):c.455G>A (p.Gly152Glu)	OVOL1 (G152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207506	NM_004561.4(OVOL1):c.716G>T (p.Ser239Ile)	OVOL1 (S239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980956	GRCh37/hg19 11q13.1(chr11:65514044-65571198)x1	AP5B1, OVOL1	Copy number loss	not provided	GUncertain significance
Select item 685329	GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3	AP5B1, CFL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 29