58495[geneid] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2599089	NM_021220.4(OVOL2):c.731A>G (p.Lys244Arg)	OVOL2 (K112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494916	NM_021220.4(OVOL2):c.713C>T (p.Pro238Leu)	OVOL2 (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727892	NM_021220.4(OVOL2):c.684C>A (p.Asp228Glu)	OVOL2 (D228E +1 more)	Single nucleotide variant (missense variant)	OVOL2-related disorder +1 more	GBenign
Select item 3207512	NM_021220.4(OVOL2):c.670C>G (p.Pro224Ala)	OVOL2 (P224A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2854809	NM_021220.4(OVOL2):c.653A>G (p.Asp218Gly)	OVOL2 (D86G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207511	NM_021220.4(OVOL2):c.633C>G (p.Asp211Glu)	OVOL2 (D211E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484683	NM_021220.4(OVOL2):c.628C>T (p.Arg210Trp)	OVOL2 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544569	NM_021220.4(OVOL2):c.608A>C (p.Gln203Pro)	OVOL2 (Q71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054874	NM_021220.4(OVOL2):c.534C>T (p.Asn178=)	OVOL2	Single nucleotide variant (synonymous variant)	OVOL2-related disorder	GLikely benign
Select item 1326982	NM_021220.4(OVOL2):c.512-4T>G	OVOL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178384	NM_021220.4(OVOL2):c.511+7G>A	OVOL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2463761	NM_021220.4(OVOL2):c.496G>A (p.Val166Ile)	OVOL2 (V34I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3207510	NM_021220.4(OVOL2):c.412C>T (p.Leu138Phe)	OVOL2 (L138F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2180172	NM_021220.4(OVOL2):c.386G>A (p.Arg129His)	OVOL2 (R129H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 726217	NM_021220.4(OVOL2):c.348G>A (p.Ser116=)	OVOL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3207509	NM_021220.4(OVOL2):c.347C>T (p.Ser116Leu)	OVOL2 (S116L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259262	NM_021220.4(OVOL2):c.343G>A (p.Asp115Asn)	OVOL2 (D115N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2532489	NM_021220.4(OVOL2):c.335C>T (p.Thr112Met)	OVOL2 (T112M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2037537	NM_021220.4(OVOL2):c.327C>A (p.Thr109=)	OVOL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2862961	NM_021220.4(OVOL2):c.322-5C>T	OVOL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2074832	NM_021220.4(OVOL2):c.321+4C>G	OVOL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801316	NM_021220.4(OVOL2):c.309A>T (p.Arg103Ser)	OVOL2 (R103S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2965180	NM_021220.4(OVOL2):c.297C>T (p.Arg99=)	OVOL2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2223174	NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)	OVOL2 (G85R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2331541	NM_021220.4(OVOL2):c.127C>T (p.Pro43Ser)	OVOL2 (P43S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2517761	NM_021220.4(OVOL2):c.110G>A (p.Gly37Asp)	OVOL2 (G37D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1901032	NM_021220.4(OVOL2):c.100+16G>A	OVOL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034529	NM_021220.4(OVOL2):c.100+8C>T	OVOL2	Single nucleotide variant (intron variant)	OVOL2-related disorder	GLikely benign
Select item 2126905	NM_021220.4(OVOL2):c.76A>G (p.Lys26Glu)	OVOL2 (K26E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3045736	NM_021220.4(OVOL2):c.18G>A (p.Leu6=)	OVOL2	Single nucleotide variant (synonymous variant +1 more)	OVOL2-related disorder	GLikely benign
Select item 224840	NM_021220.4(OVOL2):c.-274T>G	OVOL2	Single nucleotide variant (5 prime UTR variant +1 more)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 224839	NM_001303461.1(OVOL2):c.-297+949T>C	OVOL2	Single nucleotide variant (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 1973061	NM_001303461.1(OVOL2):c.-297+920G>T	OVOL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 224837	NM_001303461.1(OVOL2):c.-297+895_-297+916dup	OVOL2	Duplication (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 2871645	NM_001303461.1(OVOL2):c.-297+902G>C	OVOL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 224838	NM_001303461.1(OVOL2):c.-297+886T>C	OVOL2	Single nucleotide variant (intron variant)	Posterior polymorphous corneal dystrophy 1	GPathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2427150	NC_000020.10:g.(?_17950503)_(18005616_?)dup	MGME1, OVOL2	Duplication	not provided	GUncertain significance
Select item 2427149	NC_000020.10:g.(?_17587682)_(18168103_?)del	PET117, MGME1 +6 more	Deletion	not provided	GPathogenic
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	BANF2, BFSP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 979569	GRCh37/hg19 20p12.1-11.23(chr20:17845611-18089764)x3	SNX5, OVOL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	KIF16B, SLC24A3 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 61