ClinVar for Gene (Select 128954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280374	NM_001037814.1(GAB4):c.1481C>G (p.Pro494Arg)	GAB4 (P341R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280373	NM_001037814.1(GAB4):c.20C>T (p.Ser7Leu)	GAB4 (S7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280372	NM_001037814.1(GAB4):c.1229G>T (p.Ser410Ile)	GAB4 (S257I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280371	NM_001037814.1(GAB4):c.724A>G (p.Ile242Val)	GAB4 (I242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280370	NM_001037814.1(GAB4):c.1142G>A (p.Gly381Asp)	GAB4 (G381D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280369	NM_001037814.1(GAB4):c.956C>G (p.Thr319Ser)	GAB4 (T319S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3097784	NM_001037814.1(GAB4):c.929A>T (p.Asp310Val)	GAB4 (D310V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097782	NM_001037814.1(GAB4):c.872C>T (p.Pro291Leu)	GAB4 (P291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097781	NM_001037814.1(GAB4):c.871C>T (p.Pro291Ser)	GAB4 (P291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097780	NM_001037814.1(GAB4):c.835C>T (p.His279Tyr)	GAB4 (H279Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097779	NM_001037814.1(GAB4):c.808T>G (p.Phe270Val)	GAB4 (F270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097778	NM_001037814.1(GAB4):c.799A>C (p.Ile267Leu)	GAB4 (I267L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097777	NM_001037814.1(GAB4):c.775A>G (p.Ser259Gly)	GAB4 (S259G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097776	NM_001037814.1(GAB4):c.635C>T (p.Pro212Leu)	GAB4 (P212L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097775	NM_001037814.1(GAB4):c.608C>T (p.Pro203Leu)	GAB4 (P203L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097774	NM_001037814.1(GAB4):c.48C>G (p.Asp16Glu)	GAB4 (D16E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097773	NM_001037814.1(GAB4):c.148C>A (p.Pro50Thr)	GAB4 (P50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097772	NM_001037814.1(GAB4):c.1437C>G (p.Asn479Lys)	GAB4 (N326K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097771	NM_001037814.1(GAB4):c.1094G>C (p.Gly365Ala)	GAB4 (G212A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062457	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3	ADA2, ATP6V1E1 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062445	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17937630)x3	ADA2, CCT8L2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685061	GRCh37/hg19 22q11.1(chr22:16888900-17635449)x4	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684924	GRCh37/hg19 22q11.1(chr22:16888900-17611140)x3	CCT8L2, GAB4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2623195	NM_001037814.1(GAB4):c.1649A>T (p.Gln550Leu)	GAB4 (Q550L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620542	NM_001037814.1(GAB4):c.449T>A (p.Ile150Asn)	GAB4 (I150N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588876	NM_001037814.1(GAB4):c.661G>A (p.Ala221Thr)	GAB4 (A221T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559362	NM_001037814.1(GAB4):c.131G>A (p.Gly44Asp)	GAB4 (G44D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552519	NM_001037814.1(GAB4):c.371A>G (p.Lys124Arg)	GAB4 (K124R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548183	NM_001037814.1(GAB4):c.218G>A (p.Ser73Asn)	GAB4 (S73N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2491031	NM_001037814.1(GAB4):c.422A>G (p.Asn141Ser)	GAB4 (N141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490067	NM_001037814.1(GAB4):c.172T>C (p.Phe58Leu)	GAB4 (F58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460983	NM_001037814.1(GAB4):c.866G>T (p.Arg289Ile)	GAB4 (R289I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398629	NM_001037814.1(GAB4):c.910C>T (p.Leu304Phe)	GAB4 (L304F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394834	NM_001037814.1(GAB4):c.1109C>T (p.Pro370Leu)	GAB4 (P370L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392920	NM_001037814.1(GAB4):c.1481C>T (p.Pro494Leu)	GAB4 (P494L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375596	NM_001037814.1(GAB4):c.926C>T (p.Ala309Val)	GAB4 (A309V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369883	NM_001037814.1(GAB4):c.1141G>C (p.Gly381Arg)	GAB4 (G228R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366502	NM_001037814.1(GAB4):c.724A>T (p.Ile242Phe)	GAB4 (I242F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361755	NM_001037814.1(GAB4):c.938C>T (p.Ala313Val)	GAB4 (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361342	NM_001037814.1(GAB4):c.824A>G (p.Lys275Arg)	GAB4 (K275R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358837	NM_001037814.1(GAB4):c.629C>T (p.Ala210Val)	GAB4 (A210V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319176	NM_001037814.1(GAB4):c.632C>T (p.Pro211Leu)	GAB4 (P211L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301178	NM_001037814.1(GAB4):c.893G>A (p.Gly298Asp)	GAB4 (G298D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298847	NM_001037814.1(GAB4):c.643C>T (p.Leu215Phe)	GAB4 (L215F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276356	NM_001037814.1(GAB4):c.1609A>G (p.Lys537Glu)	GAB4 (K384E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2262790	NM_001037814.1(GAB4):c.1165T>G (p.Cys389Gly)	GAB4 (C236G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258542	NM_001037814.1(GAB4):c.1111G>T (p.Ala371Ser)	GAB4 (A218S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239527	NM_001037814.1(GAB4):c.422A>C (p.Asn141Thr)	GAB4 (N141T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226531	NM_001037814.1(GAB4):c.1152C>G (p.Ile384Met)	GAB4 (I231M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218199	NM_001037814.1(GAB4):c.931A>T (p.Asn311Tyr)	GAB4 (N311Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216177	NM_001037814.1(GAB4):c.1537A>C (p.Thr513Pro)	GAB4 (T360P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213998	NM_001037814.1(GAB4):c.1529C>G (p.Pro510Arg)	GAB4 (P357R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212204	NM_001037814.1(GAB4):c.907A>G (p.Ser303Gly)	GAB4 (S303G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809245	GRCh37/hg19 22q11.1-11.21(chr22:17034543-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808549	GRCh37/hg19 22q11.1-11.21(chr22:16888900-17948922)x3	ADA2, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808352	GRCh37/hg19 22q11.1(chr22:16888900-17597713)x3	CCT8L2, GAB4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807693	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3	ADA2, ATP6V1E1 +17 more	Copy number gain	not provided	GPathogenic
Select item 1807686	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4	BCL2L13, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1676305	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4	HDHD5, IL17RA +15 more	Copy number gain	Cat eye syndrome	GPathogenic
Select item 1340106	GRCh37/hg19 22q11.1(chr22:16888900-17619816)x3	CCT8L2, GAB4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1321995	GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	TMEM121B, ADA2 +15 more	Copy number gain	See cases	GPathogenic
Select item 1176014	GRCh37/hg19 22q11.1(chr22:17443623-17663651)x1	ADA2, GAB4 +3 more	Copy number loss	not provided	GUncertain significance
Select item 988911	GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	ADA2, AIFM3 +62 more	Copy number gain	not provided	GPathogenic
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 980800	GRCh37/hg19 22q11.1(chr22:16888899-17811229)x1	ADA2, CCT8L2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 980799	GRCh37/hg19 22q11.1(chr22:16888899-17536145)x4	CCT8L2, GAB4 +1 more	Copy number gain	not provided	GLikely pathogenic
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 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 816195	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	CCT8L2, BCL2L13 +15 more	Copy number gain	not provided	GPathogenic
Select item 816194	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17948922)x3	XKR3, CCT8L2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816193	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1	ADA2, ARVCF +49 more	Copy number loss	not provided	GPathogenic
Select item 816192	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4	TUBA8, USP18 +17 more	Copy number gain	not provided	GPathogenic
Select item 816191	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3	TMEM121B, ADA2 +14 more	Copy number gain	not provided	GPathogenic
Select item 816190	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1	CECR3, HIRA +42 more	Copy number loss	not provided	GPathogenic
Select item 816186	GRCh37/hg19 22q11.1(chr22:16888899-17619816)x3	XKR3, TMEM121B +4 more	Copy number gain	not provided	GUncertain significance
Select item 686107	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	ADA2, ARVCF +44 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 685064	GRCh37/hg19 22q11.1-11.21(chr22:16888899-17979434)x3	ADA2, CCT8L2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684996	GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 635901	Single allele	ADA2, ARVCF +43 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625807	GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	ADA2, ARVCF +43 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 625806	GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	ADA2, ARVCF +42 more	Copy number gain	not provided	GPathogenic
Select item 625581	GRCh37/hg19 22q11.1-11.21(chr22:17289827-17938918)	ADA2, CECR3 +5 more	Copy number gain	Cat eye syndrome	GPathogenic
Select item 565046	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	TRMT2A, MRPL40 +44 more	Copy number gain	not provided	GPathogenic
Select item 565026	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3	SLC25A18, BID +15 more	Copy number gain	not provided	GPathogenic
Select item 565003	GRCh37/hg19 22q11.1(chr22:16888899-17464771)x3	CCT8L2, XKR3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 446351	GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4	ADA2, ATP6V1E1 +19 more	Copy number gain	See cases	GPathogenic
Select item 443783	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1	ADA2, ARVCF +38 more	Copy number loss	See cases	GPathogenic
Select item 443782	GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300)	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 443578	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 442773	GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3	ADA2, ARVCF +44 more	Copy number gain	See cases	GPathogenic
Select item 442367	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4	ADA2, ATP6V1E1 +15 more	Copy number gain	See cases	GPathogenic
Select item 442174	GRCh37/hg19 22q11.1(chr22:16888899-17669306)x4	ADA2, CCT8L2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441973	GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)	ADA2, ATP6V1E1 +17 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic

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