LOC129389274[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 57962	GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3	CPLANE1, CPLANE1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 147552	GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3	CPLANE1, CPLANE1-AS1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 151661	GRCh38/hg38 5p13.2(chr5:37150088-37364068)x3	CPLANE1, CPLANE1-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 57964	GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3	CPLANE1, CPLANE1-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153988	GRCh38/hg38 5p13.2(chr5:37165366-37721778)x3	CPLANE1, CPLANE1-AS1 +20 more	Copy number gain	See cases	GLikely benign
Select item 2117614	NM_001384732.1(CPLANE1):c.4475A>T (p.Tyr1492Phe)	CPLANE1, LOC129389274 (Y1492F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034821	NM_001384732.1(CPLANE1):c.4464G>A (p.Arg1488=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004296	NM_001384732.1(CPLANE1):c.4461T>G (p.Ser1487Arg)	CPLANE1, LOC129389274 (S1487R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452725	NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)	CPLANE1, LOC129389274 (S1487N)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity
Select item 2048040	NM_001384732.1(CPLANE1):c.4446G>A (p.Ser1482=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903348	NM_001384732.1(CPLANE1):c.4443G>C (p.Leu1481Phe)	CPLANE1, LOC129389274 (L1481F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571484	NM_001384732.1(CPLANE1):c.4428G>A (p.Thr1476=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096123	NM_001384732.1(CPLANE1):c.4427C>G (p.Thr1476Arg)	CPLANE1, LOC129389274 (T1476R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412464	NM_001384732.1(CPLANE1):c.4427C>T (p.Thr1476Met)	CPLANE1, LOC129389274 (T1476M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516870	NM_001384732.1(CPLANE1):c.4424A>G (p.Asp1475Gly)	CPLANE1, LOC129389274 (D1475G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642380	NM_001384732.1(CPLANE1):c.4407G>C (p.Val1469=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 261671	NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)	CPLANE1, LOC129389274 (S1468C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1372747	NM_001384732.1(CPLANE1):c.4399G>A (p.Asp1467Asn)	CPLANE1, LOC129389274 (D1467N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944321	NM_001384732.1(CPLANE1):c.4394_4397dup (p.Asp1467fs)	CPLANE1, LOC129389274 (D1467fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 195904	NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)	LOC129389274, CPLANE1 (T1463I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1474576	NM_001384732.1(CPLANE1):c.4387A>C (p.Thr1463Pro)	CPLANE1, LOC129389274 (T1463P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954236	NM_001384732.1(CPLANE1):c.4383A>G (p.Thr1461=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353452	NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr)	CPLANE1, LOC129389274 (S1460T)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 1576972	NM_001384732.1(CPLANE1):c.4376G>C (p.Arg1459Thr)	CPLANE1, LOC129389274 (R1459T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1466028	NM_001384732.1(CPLANE1):c.4373G>T (p.Ser1458Ile)	CPLANE1, LOC129389274 (S1458I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631965	NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs)	CPLANE1, LOC129389274 (T1455fs)	Deletion (frameshift variant)	Joubert syndrome 17	GUncertain significance
Select item 1957057	NM_001384732.1(CPLANE1):c.4357C>G (p.Leu1453Val)	CPLANE1, LOC129389274 (L1453V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 905349	NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe)	CPLANE1, LOC129389274 (S1452F)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GUncertain significance
Select item 1602774	NM_001384732.1(CPLANE1):c.4353T>C (p.Tyr1451=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369184	NM_001384732.1(CPLANE1):c.4343T>G (p.Val1448Gly)	CPLANE1, LOC129389274 (V1448G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169705	NM_001384732.1(CPLANE1):c.4333G>T (p.Ala1445Ser)	CPLANE1, LOC129389274 (A1445S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603073	NM_001384732.1(CPLANE1):c.4326A>T (p.Pro1442=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379927	NM_001384732.1(CPLANE1):c.4322A>G (p.Lys1441Arg)	CPLANE1, LOC129389274 (K1441R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427894	NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)	CPLANE1, LOC129389274 (E1439fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 2831554	NM_001384732.1(CPLANE1):c.4312G>T (p.Glu1438Ter)	CPLANE1, LOC129389274 (E1438*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 158036	NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)	CPLANE1, LOC129389274 (I1437T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1139334	NM_001384732.1(CPLANE1):c.4309A>G (p.Ile1437Val)	CPLANE1, LOC129389274 (I1437V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2125056	NM_001384732.1(CPLANE1):c.4308A>T (p.Pro1436=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353453	NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)	CPLANE1, LOC129389274 (P1436S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2144840	NM_001384732.1(CPLANE1):c.4292T>G (p.Val1431Gly)	CPLANE1, LOC129389274 (V1431G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132752	NM_001384732.1(CPLANE1):c.4292T>A (p.Val1431Glu)	CPLANE1, LOC129389274 (V1431E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522592	NM_001384732.1(CPLANE1):c.4277T>C (p.Ile1426Thr)	CPLANE1, LOC129389274 (I1426T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 51