ClinVar for Gene (Select 9609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150693	NM_004914.5(RAB36):c.736A>C (p.Ile246Leu)	RAB36, RSPH14 (N305T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150692	NM_004914.5(RAB36):c.277G>A (p.Asp93Asn)	RAB36, RSPH14 (D93N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150691	NM_004914.4(RAB36):c.37G>T (p.Ala13Ser)	RAB36, RSPH14 (A13S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3150690	NM_004914.5(RAB36):c.160G>A (p.Gly54Arg)	RAB36, RSPH14 (G144R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150689	NM_004914.5(RAB36):c.127G>A (p.Ala43Thr)	RAB36, RSPH14 (A109T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150688	NM_004914.5(RAB36):c.-54G>A	RAB36, RSPH14 (G49R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3062454	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2622425	NM_004914.5(RAB36):c.-41C>T	RAB36, RSPH14 (A53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2578929	GRCh37/hg19 22q11.22-11.23(chr22:22989224-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 2482468	NM_004914.5(RAB36):c.382C>T (p.Arg128Trp)	RAB36, RSPH14 (R218W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460696	NM_004914.5(RAB36):c.424G>A (p.Val142Met)	RAB36, RSPH14 (V232M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455614	NM_004914.5(RAB36):c.622G>A (p.Glu208Lys)	RAB36, RSPH14 (E298K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333929	NM_004914.5(RAB36):c.181G>A (p.Val61Met)	RAB36, RSPH14 (V127M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287295	NM_004914.5(RAB36):c.664T>C (p.Phe222Leu)	RAB36, RSPH14 (I281T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285460	NM_004914.5(RAB36):c.646C>T (p.Arg216Cys)	RAB36, RSPH14 (P275L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277491	NM_004914.5(RAB36):c.236A>G (p.Lys79Arg)	RAB36, RSPH14 (K145R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236504	NM_004914.5(RAB36):c.488C>T (p.Ser163Phe)	RAB36, RSPH14 (S163F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206105	NM_004914.5(RAB36):c.649G>A (p.Val217Ile)	RAB36, RSPH14 (R276H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205502	NM_004914.5(RAB36):c.202G>A (p.Val68Met)	RAB36, RSPH14 (V134M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879569	GRCh37/hg19 22q11.22-11.23(chr22:22988816-23657709)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807704	GRCh37/hg19 22q11.22-11.23(chr22:22997929-23650871)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1341126	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23653963)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1340419	GRCh37/hg19 22q11.22(chr22:22953514-23489966)x3	GGTLC2, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1330169	GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3	BCR, C22orf15 +16 more	Copy number gain	Generalized-onset seizure +1 more	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980810	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 979599	GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3	IGLC1, BCR +6 more	Copy number gain	not provided	GUncertain significance
Select item 979598	GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3	DDTL, GUCD1 +29 more	Copy number gain	not provided	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic
Select item 816209	GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3	GSTT1, CHCHD10 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 688599	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 688301	GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1	BCR, CCDC116 +20 more	Copy number loss	not provided	GPathogenic
Select item 688150	GRCh37/hg19 22q11.22-11.23(chr22:23004886-23757078)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 687963	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23652512)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 687759	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23649052)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 687642	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 687375	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 687352	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652512)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687011	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 686993	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 686931	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3	SMARCB1, SNRPD3 +32 more	Copy number gain	not provided	GPathogenic
Select item 686676	GRCh37/hg19 22q11.22-11.23(chr22:22962195-23652562)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686625	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	not provided	GPathogenic
Select item 686226	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649907)x3	BCR, GNAZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 686040	GRCh37/hg19 22q11.22-11.23(chr22:22962196-23652512)x1	BCR, GGTLC2 +5 more	Copy number loss	not provided	GPathogenic
Select item 685920	GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 684901	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3	GUCD1, IGLC1 +33 more	Copy number gain	not provided	GPathogenic
Select item 638672	GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)	IGLC1, IGLL5 +5 more	Copy number loss	Ventricular septal defect +2 more	GPathogenic
Select item 636296	GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3	BCR, GNAZ +4 more	Copy number gain	22q11.2 distal duplication syndrome	GUncertain significance
Select item 635766	GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3	VPREB3, ZNF70 +33 more	Copy number gain	Global developmental delay	GLikely pathogenic
Select item 625626	GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	BCR, CCDC116 +23 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565032	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 565031	GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3	DDT, ZNF70 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 565029	GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3	GSTT2B, GNAZ +32 more	Copy number gain	not provided	GPathogenic
Select item 565007	GRCh37/hg19 22q11.22-11.23(chr22:22953514-23654007)x3	BCR, GGTLC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 565006	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23650873)x1	IGLL5, GNAZ +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 545273	NC_000022.11:g.(?_22638171)_(23320336_?)del	IGLL5, IGLV2-11 +85 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 446350	GRCh37/hg19 22q11.22-11.23(chr22:23249390-23651318)x3	BCR, GNAZ +2 more	Copy number gain	See cases	GUncertain significance
Select item 443421	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	See cases	GPathogenic
Select item 443325	GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3	BCR, CCDC116 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442926	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1	BCR, GNAZ +4 more	Copy number loss	See cases	GUncertain significance
Select item 442419	GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3	ADORA2A, BCR +31 more	Copy number gain	See cases	GUncertain significance
Select item 442158	GRCh37/hg19 22q11.22-11.23(chr22:22997803-23654064)x3	BCR, GNAZ +4 more	Copy number gain	See cases	GLikely benign
Select item 442064	GRCh37/hg19 22q11.22-11.23(chr22:22997802-23649562)x1	BCR, GNAZ +4 more	Copy number loss	See cases	GLikely benign
Select item 441811	GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3	CCDC116, ADORA2A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 402121	GRCh37/hg19 22q11.22-11.23(chr22:22989304-23666474)x1	GGTLC2, GNAZ +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 395507	GRCh37/hg19 22q11.22-11.23(chr22:23283056-23654163)x3	BCR, GNAZ +2 more	Copy number gain	See cases	GUncertain significance
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 395052	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3	CABIN1, ADORA2A +29 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253499	GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3	CHCHD10, RAB36 +17 more	Copy number gain	See cases	GPathogenic
Select item 253485	GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3	GSTT2B, VPREB3 +32 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253435	GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3	RSPH14, SNRPD3 +29 more	Copy number gain	See cases	GPathogenic
Select item 253433	GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3	BCR, CCDC116 +25 more	Copy number gain	See cases	GPathogenic

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