Related gene-specific medical variations for Gene (Select 65250) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024478	NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)	CPLANE1 (G2174fs)	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 2690577	NM_001384732.1(CPLANE1):c.2920G>T (p.Glu974Ter)	CPLANE1 (E974*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690557	NM_001384732.1(CPLANE1):c.7533+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2663858	NM_001384732.1(CPLANE1):c.7588+3A>G	CPLANE1	Single nucleotide variant (intron variant)	Joubert syndrome 1	GLikely pathogenic
Select item 2440525	NM_001384732.1(CPLANE1):c.376G>A (p.Gly126Arg)	CPLANE1 (G126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440524	NM_001384732.1(CPLANE1):c.1081C>T (p.Pro361Ser)	CPLANE1 (P361S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439528	NM_001384732.1(CPLANE1):c.5220del (p.Phe1740fs)	CPLANE1 (F1740fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 2125056	NM_001384732.1(CPLANE1):c.4308A>T (p.Pro1436=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	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 2096123	NM_001384732.1(CPLANE1):c.4427C>G (p.Thr1476Arg)	CPLANE1, LOC129389274 (T1476R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2034821	NM_001384732.1(CPLANE1):c.4464G>A (p.Arg1488=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1954236	NM_001384732.1(CPLANE1):c.4383A>G (p.Thr1461=)	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 1642380	NM_001384732.1(CPLANE1):c.4407G>C (p.Val1469=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1602774	NM_001384732.1(CPLANE1):c.4353T>C (p.Tyr1451=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1571484	NM_001384732.1(CPLANE1):c.4428G>A (p.Thr1476=)	CPLANE1, LOC129389274	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527892	NM_001384732.1(CPLANE1):c.4241T>C (p.Val1414Ala)	CPLANE1 (V1414A)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GUncertain significance
Select item 1527891	NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys)	CPLANE1 (F606C)	Single nucleotide variant (missense variant)	Joubert syndrome 17	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 1474576	NM_001384732.1(CPLANE1):c.4387A>C (p.Thr1463Pro)	CPLANE1, LOC129389274 (T1463P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1412464	NM_001384732.1(CPLANE1):c.4427C>T (p.Thr1476Met)	CPLANE1, LOC129389274 (T1476M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1372747	NM_001384732.1(CPLANE1):c.4399G>A (p.Asp1467Asn)	CPLANE1, LOC129389274 (D1467N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1139334	NM_001384732.1(CPLANE1):c.4309A>G (p.Ile1437Val)	CPLANE1, LOC129389274 (I1437V)	Single nucleotide variant (missense 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 984909	NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs)	CPLANE1 (G462fs)	Duplication (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 984531	NM_001384732.1(CPLANE1):c.7691-5_7691-4del	CPLANE1	Deletion (intron variant)	Familial aplasia of the vermis	GPathogenic
Select item 982368	NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC	CPLANE1	Insertion (intron variant)	Joubert syndrome 17	GPathogenic
Select item 982303	NM_001384732.1(CPLANE1):c.7691-107_7691-105del	CPLANE1	Deletion (intron variant)	Joubert syndrome 17	GPathogenic
Select item 944321	NM_001384732.1(CPLANE1):c.4394_4397dup (p.Asp1467fs)	LOC129389274, CPLANE1 (D1467fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 931447	NM_001384732.1(CPLANE1):c.7555del (p.Ser2519fs)	CPLANE1 (S2519fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 905349	NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe)	CPLANE1, LOC129389274 (S1452F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904704	NM_001384732.1(CPLANE1):c.-77C>T	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 686340	GRCh37/hg19 5p13.2(chr5:37196421-37219882)x1	CPLANE1	Copy number loss	not provided	GPathogenic
Select item 631965	NM_001384732.1(CPLANE1):c.4362del (p.Thr1455fs)	CPLANE1, LOC129389274 (T1455fs)	Deletion (frameshift variant)	Joubert syndrome 17	GUncertain significance
Select item 591961	NM_001384732.1(CPLANE1):c.895G>T (p.Gly299Ter)	CPLANE1 (G299*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591389	NM_001384732.1(CPLANE1):c.5363_5365del (p.Leu1788del)	CPLANE1 (L1788del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591380	NM_001384732.1(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del)	CPLANE1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591206	NM_001384732.1(CPLANE1):c.9701TGG[1] (p.Val3235del)	CPLANE1 (V3181del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 549895	Single allele	CPLANE1	Deletion	not specified	GBenign
Select item 522892	NM_001384732.1(CPLANE1):c.5738-2A>G	CPLANE1	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis	GLikely pathogenic
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
Select item 510602	NM_001384732.1(CPLANE1):c.-48+10C>A	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 452725	NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)	CPLANE1, LOC129389274 (S1487N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 445343	NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)	CPLANE1	Deletion (frameshift variant)	Orofaciodigital syndrome type 6 +2 more	GLikely pathogenic
Select item 427894	NM_001384732.1(CPLANE1):c.4314del (p.Glu1439fs)	CPLANE1, LOC129389274 (E1439fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 375325	NM_001384732.1(CPLANE1):c.6968A>C (p.Gln2323Pro)	CPLANE1 (Q2323P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 375324	NM_001384732.1(CPLANE1):c.2080A>G (p.Met694Val)	CPLANE1 (M694V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 353470	NM_001384732.1(CPLANE1):c.-151C>T	CPLANE1, CPLANE1-AS1 +1 more	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353453	NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)	CPLANE1, LOC129389274 (P1436S)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GConflicting classifications of pathogenicity
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 261671	NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)	LOC129389274, CPLANE1 (S1468C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 261664	NM_001384732.1(CPLANE1):c.*14T>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 217588	NM_001384732.1(CPLANE1):c.9017+1G>T	CPLANE1	Single nucleotide variant (splice donor variant)	Joubert syndrome 17	GPathogenic
Select item 217586	NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His)	CPLANE1 (R944H)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GPathogenic
Select item 217582	NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu)	CPLANE1 (W1000L)	Single nucleotide variant (missense variant)	Joubert syndrome 17	GPathogenic
Select item 217581	NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter)	CPLANE1 (E1003*)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 217576	NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs)	CPLANE1 (L171fs)	Duplication (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 217572	NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs)	CPLANE1 (L1213fs)	Microsatellite (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 217568	NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs)	CPLANE1 (P2397fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 217563	NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter)	CPLANE1 (E2906* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 217562	NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)	CPLANE1 (Q2723* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 217561	NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs)	CPLANE1 (A2909fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 195904	NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)	CPLANE1, LOC129389274 (T1463I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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Items: 75