PAPPA-AS2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150594	GRCh38/hg38 9q33.1(chr9:116328021-117227757)x1	ASTN2, ASTN2-AS1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 2472439	NM_002581.5(PAPPA):c.3155G>A (p.Arg1052Gln)	PAPPA, PAPPA-AS2 (R1052Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208462	NM_002581.5(PAPPA):c.3245C>T (p.Thr1082Ile)	PAPPA, PAPPA-AS2 (T1082I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236272	NM_002581.5(PAPPA):c.3338A>G (p.Gln1113Arg)	PAPPA, PAPPA-AS2 (Q1113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208463	NM_002581.5(PAPPA):c.3367C>T (p.Leu1123Phe)	PAPPA, PAPPA-AS2 (L1123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338167	NM_002581.5(PAPPA):c.3473A>G (p.His1158Arg)	PAPPA, PAPPA-AS2 (H1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758742	NM_002581.5(PAPPA):c.3558C>T (p.Pro1186=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208464	NM_002581.5(PAPPA):c.3559G>A (p.Val1187Ile)	PAPPA, PAPPA-AS2 (V1187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479781	NM_002581.5(PAPPA):c.3616G>T (p.Val1206Leu)	PAPPA, PAPPA-AS2 (V1206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589907	NM_002581.5(PAPPA):c.3624C>G (p.Phe1208Leu)	PAPPA, PAPPA-AS2 (F1208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481390	NM_002581.5(PAPPA):c.3646C>A (p.Pro1216Thr)	PAPPA, PAPPA-AS2 (P1216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238296	NM_002581.5(PAPPA):c.3671C>A (p.Ser1224Tyr)	PAPPA, PAPPA-AS2 (S1224Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268128	NM_002581.5(PAPPA):c.3694C>T (p.Arg1232Cys)	PAPPA, PAPPA-AS2 (R1232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716984	NM_002581.5(PAPPA):c.3695G>A (p.Arg1232His)	PAPPA, PAPPA-AS2 (R1232H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728709	NM_002581.5(PAPPA):c.3702C>T (p.His1234=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3304245	NM_002581.5(PAPPA):c.3711G>C (p.Gln1237His)	PAPPA, PAPPA-AS2 (Q1237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304248	NM_002581.5(PAPPA):c.3728G>C (p.Arg1243Pro)	PAPPA, PAPPA-AS2 (R1243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725123	NM_002581.5(PAPPA):c.3738C>T (p.Tyr1246=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208465	NM_002581.5(PAPPA):c.3758A>T (p.Asp1253Val)	PAPPA, PAPPA-AS2 (D1253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251788	NM_002581.5(PAPPA):c.3875A>C (p.Gln1292Pro)	PAPPA, PAPPA-AS2 (Q1292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553857	NM_002581.5(PAPPA):c.3901C>T (p.Pro1301Ser)	PAPPA, PAPPA-AS2 (P1301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208466	NM_002581.5(PAPPA):c.3943C>T (p.Arg1315Cys)	PAPPA, PAPPA-AS2 (R1315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544728	NM_002581.5(PAPPA):c.4048C>T (p.Pro1350Ser)	PAPPA, PAPPA-AS2 (P1350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395079	NM_002581.5(PAPPA):c.4061A>G (p.Asn1354Ser)	PAPPA, PAPPA-AS2 (N1354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386469	NM_002581.5(PAPPA):c.4078G>A (p.Ala1360Thr)	PAPPA, PAPPA-AS2 (A1360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732257	NM_002581.5(PAPPA):c.4086C>T (p.Cys1362=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659461	NM_002581.5(PAPPA):c.4147G>A (p.Val1383Met)	PAPPA, PAPPA-AS2 (V1383M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490009	NM_002581.5(PAPPA):c.4154G>A (p.Gly1385Glu)	PAPPA, PAPPA-AS2 (G1385E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272212	NM_002581.5(PAPPA):c.4163G>A (p.Arg1388Gln)	PAPPA, PAPPA-AS2 (R1388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615102	NM_002581.5(PAPPA):c.4177C>T (p.Arg1393Trp)	PAPPA, PAPPA-AS2 (R1393W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411640	NM_002581.5(PAPPA):c.4218G>T (p.Gln1406His)	PAPPA, PAPPA-AS2 (Q1406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208468	NM_002581.5(PAPPA):c.4337A>T (p.Asp1446Val)	PAPPA, PAPPA-AS2 (D1446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708045	NM_002581.5(PAPPA):c.4352T>C (p.Leu1451Pro)	PAPPA, PAPPA-AS2 (L1451P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257489	NM_002581.5(PAPPA):c.4363G>A (p.Val1455Ile)	PAPPA, PAPPA-AS2 (V1455I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2659462	NM_002581.5(PAPPA):c.4374C>T (p.Cys1458=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3304250	NM_002581.5(PAPPA):c.4375C>T (p.Arg1459Trp)	PAPPA, PAPPA-AS2 (R1459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304247	NM_002581.5(PAPPA):c.4376G>A (p.Arg1459Gln)	PAPPA, PAPPA-AS2 (R1459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208469	NM_002581.5(PAPPA):c.4436C>T (p.Ser1479Leu)	PAPPA, PAPPA-AS2 (S1479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208470	NM_002581.5(PAPPA):c.4457G>A (p.Ser1486Asn)	PAPPA, PAPPA-AS2 (S1486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315555	NM_002581.5(PAPPA):c.4457G>T (p.Ser1486Ile)	PAPPA, PAPPA-AS2 (S1486I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 50