OVGP1[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2239995	NM_002557.4(OVGP1):c.1999G>A (p.Glu667Lys)	OVGP1 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207493	NM_002557.4(OVGP1):c.1958A>G (p.Asn653Ser)	OVGP1 (N653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395638	NM_002557.4(OVGP1):c.1951T>G (p.Ser651Ala)	OVGP1 (S651A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262258	NM_002557.4(OVGP1):c.1945C>T (p.His649Tyr)	OVGP1 (H649Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371186	NM_002557.4(OVGP1):c.1858A>T (p.Met620Leu)	OVGP1 (M620L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548198	NM_002557.4(OVGP1):c.1785G>C (p.Glu595Asp)	OVGP1 (E595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207492	NM_002557.4(OVGP1):c.1783G>C (p.Glu595Gln)	OVGP1 (E595Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289623	NM_002557.4(OVGP1):c.1760G>A (p.Gly587Glu)	OVGP1 (G587E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775576	NM_002557.4(OVGP1):c.1753C>G (p.Pro585Ala)	OVGP1 (P585A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570128	NM_002557.4(OVGP1):c.1711C>T (p.Arg571Cys)	OVGP1 (R571C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303740	NM_002557.4(OVGP1):c.1639A>G (p.Met547Val)	OVGP1 (M547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767686	NM_002557.4(OVGP1):c.1598_1621del (p.Thr533_Val540del)	OVGP1	Deletion (inframe_deletion)	not provided	GBenign
Select item 789431	NM_002557.4(OVGP1):c.1606A>G (p.Ser536Gly)	OVGP1 (S536G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 252607	NM_002557.4(OVGP1):c.1599_1600insACTGGACAGAAGACCCTGACC (p.Thr533_Pro534insThrGlyGlnLysThrLeuThr)	OVGP1	Insertion (inframe_insertion)	not specified	GBenign
Select item 716048	NM_002557.4(OVGP1):c.1598C>G (p.Thr533Ser)	OVGP1 (T533S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767687	NM_002557.4(OVGP1):c.1531_1575del (p.Ser511_Thr525del)	OVGP1	Deletion (inframe_deletion)	not provided	GBenign
Select item 3207491	NM_002557.4(OVGP1):c.1552A>G (p.Thr518Ala)	OVGP1 (T518A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220750	NM_002557.4(OVGP1):c.1526T>C (p.Leu509Pro)	OVGP1 (L509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315554	NM_002557.4(OVGP1):c.1448G>A (p.Gly483Asp)	OVGP1 (G483D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488972	NM_002557.4(OVGP1):c.1444G>A (p.Val482Met)	OVGP1 (V482M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783940	NM_002557.4(OVGP1):c.1402G>A (p.Gly468Arg)	OVGP1 (G468R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3207490	NM_002557.4(OVGP1):c.1394T>C (p.Val465Ala)	OVGP1 (V465A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319614	NM_002557.4(OVGP1):c.1378C>T (p.Leu460Phe)	OVGP1 (L460F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458996	NM_002557.4(OVGP1):c.1309G>A (p.Gly437Arg)	OVGP1 (G437R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207489	NM_002557.4(OVGP1):c.1294G>C (p.Val432Leu)	OVGP1 (V432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303741	NM_002557.4(OVGP1):c.1285G>C (p.Glu429Gln)	OVGP1 (E429Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207488	NM_002557.4(OVGP1):c.1282G>A (p.Gly428Arg)	OVGP1 (G428R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746882	NM_002557.4(OVGP1):c.1244C>T (p.Thr415Met)	OVGP1 (T415M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2228808	NM_002557.4(OVGP1):c.1220A>G (p.Asp407Gly)	OVGP1 (D407G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518305	NM_002557.4(OVGP1):c.1208C>G (p.Ser403Cys)	OVGP1 (S403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303744	NM_002557.4(OVGP1):c.1185T>G (p.Phe395Leu)	OVGP1 (F395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592323	NM_002557.4(OVGP1):c.1049G>T (p.Gly350Val)	OVGP1 (G350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223113	NM_002557.4(OVGP1):c.1037G>A (p.Arg346Gln)	OVGP1 (R346Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207499	NM_002557.4(OVGP1):c.978A>C (p.Lys326Asn)	OVGP1 (K326N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547266	NM_002557.4(OVGP1):c.881A>G (p.Glu294Gly)	OVGP1 (E294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210162	NM_002557.4(OVGP1):c.802C>T (p.Arg268Cys)	OVGP1 (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207497	NM_002557.4(OVGP1):c.595C>T (p.Arg199Cys)	OVGP1 (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726804	NM_002557.4(OVGP1):c.541C>T (p.Leu181=)	OVGP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207496	NM_002557.4(OVGP1):c.526C>T (p.Arg176Cys)	OVGP1 (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293065	NM_002557.4(OVGP1):c.458G>A (p.Arg153Gln)	OVGP1 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239677	NM_002557.4(OVGP1):c.425A>G (p.Tyr142Cys)	OVGP1 (Y142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558467	NM_002557.4(OVGP1):c.377C>A (p.Ser126Tyr)	OVGP1 (S126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354701	NM_002557.4(OVGP1):c.374T>C (p.Ile125Thr)	OVGP1 (I125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207495	NM_002557.4(OVGP1):c.349C>T (p.Arg117Cys)	OVGP1 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234928	NM_002557.4(OVGP1):c.329T>C (p.Met110Thr)	OVGP1 (M110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372759	NM_002557.4(OVGP1):c.292G>A (p.Gly98Ser)	OVGP1 (G98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207494	NM_002557.4(OVGP1):c.251T>A (p.Leu84Gln)	OVGP1 (L84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215611	NM_002557.4(OVGP1):c.224A>G (p.Lys75Arg)	OVGP1 (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517699	NM_002557.4(OVGP1):c.215A>G (p.Gln72Arg)	OVGP1 (Q72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303742	NM_002557.4(OVGP1):c.130C>T (p.His44Tyr)	OVGP1 (H44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548268	NM_002557.4(OVGP1):c.116C>T (p.Ala39Val)	OVGP1 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548267	NM_002557.4(OVGP1):c.115G>T (p.Ala39Ser)	OVGP1 (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490007	NM_002557.4(OVGP1):c.112C>T (p.Pro38Ser)	OVGP1 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319830	NM_002557.4(OVGP1):c.89A>G (p.Asn30Ser)	OVGP1 (N30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207498	NM_002557.4(OVGP1):c.70C>T (p.Leu24Phe)	OVGP1 (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303743	NM_002557.4(OVGP1):c.56G>A (p.Gly19Asp)	OVGP1 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619366	NM_002557.4(OVGP1):c.53A>T (p.Asp18Val)	OVGP1 (D18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 72