ClinVar for Gene (Select 5062) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362907	NM_002577.4(PAK2):c.836A>C (p.Gln279Pro)	PAK2 (Q279P)	Single nucleotide variant (missense variant)	Knobloch syndrome 2	GLikely pathogenic
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3208039	NM_002577.4(PAK2):c.1269A>T (p.Lys423Asn)	PAK2 (K423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062737	GRCh37/hg19 3q29(chr3:196503594-196544625)x3	PAK2	Copy number gain	not specified	GUncertain significance
Select item 3053301	NM_002577.4(PAK2):c.986G>T (p.Gly329Val)	PAK2 (G329V)	Single nucleotide variant (missense variant)	PAK2-related disorder	GUncertain significance
Select item 3042971	NM_002577.4(PAK2):c.414A>G (p.Lys138=)	PAK2	Single nucleotide variant (synonymous variant)	PAK2-related disorder	GLikely benign
Select item 3030313	NM_002577.4(PAK2):c.935+1G>T	PAK2	Single nucleotide variant (splice donor variant)	PAK2-related disorder	GUncertain significance
Select item 2921281	NM_002577.4(PAK2):c.1273G>A (p.Asp425Asn)	PAK2 (D425N)	Single nucleotide variant (missense variant)	Knobloch syndrome 2	GLikely pathogenic
Select item 2920659	NM_002577.4(PAK2):c.1217C>T (p.Thr406Met)	PAK2 (T406M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2550978	NM_002577.4(PAK2):c.718G>A (p.Val240Met)	PAK2 (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540867	NM_002577.4(PAK2):c.1278A>G (p.Ile426Met)	PAK2 (I426M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	not provided	GUncertain significance
Select item 2398936	NM_002577.4(PAK2):c.794C>T (p.Thr265Ile)	PAK2 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386540	NM_002577.4(PAK2):c.943G>T (p.Val315Leu)	PAK2 (V315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330302	NM_002577.4(PAK2):c.697A>G (p.Met233Val)	PAK2 (M233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318489	NM_002577.4(PAK2):c.64A>G (p.Ile22Val)	PAK2 (I22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279628	NM_002577.4(PAK2):c.533C>T (p.Thr178Ile)	PAK2 (T178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269422	NM_002577.4(PAK2):c.557G>T (p.Arg186Leu)	PAK2 (R186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240722	NM_002577.4(PAK2):c.1451A>T (p.Asp484Val)	PAK2 (D484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240036	NM_002577.4(PAK2):c.519T>G (p.Asp173Glu)	PAK2 (D173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232820	NM_002577.4(PAK2):c.383A>C (p.Lys128Thr)	PAK2 (K128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808944	GRCh37/hg19 3q29(chr3:196519209-196651853)x3	PAK2, SENP5	Copy number gain	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1697333	NM_002577.4(PAK2):c.1303G>A (p.Glu435Lys)	PAK2 (E435K)	Single nucleotide variant (missense variant)	Knobloch syndrome	GPathogenic
Select item 1679598	Single allele	CEP19, DLG1 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340993	GRCh37/hg19 3q29(chr3:196517809-196651853)x3	PAK2, SENP5	Copy number gain	not provided	GLikely benign
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1340375	GRCh37/hg19 3q29(chr3:196269417-196481401)x3	CEP19, FBXO45 +4 more	Copy number gain	not provided	GLikely benign
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1320313	NM_002577.4(PAK2):c.1205C>T (p.Thr402Ile)	PAK2 (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1217224	GRCh37/hg19 3q29(chr3:196539700-196612739)x1	PAK2, SENP5	Copy number loss	del3q29	GUncertain significance
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	UBXN7, BDH1 +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 973078	GRCh37/hg19 3q29(chr3:196381502-196771786)x3	CEP19, DLG1 +7 more	Copy number gain	not provided	Gnot provided
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814513	GRCh37/hg19 3q29(chr3:196244688-196535851)x3	FBXO45, WDR53 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687227	GRCh37/hg19 3q29(chr3:196403636-196481445)x3	CEP19, PAK2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562866	GRCh37/hg19 3q29(chr3:195725290-197015654)x1	SLC51A, PCYT1A +18 more	Copy number loss	not provided	GPathogenic
Select item 562865	GRCh37/hg19 3q29(chr3:195703615-197356334)x3	CEP19, DLG1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562864	GRCh37/hg19 3q29(chr3:195703615-197348575)x1	SENP5, SLC51A +19 more	Copy number loss	not provided	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 443988	GRCh37/hg19 3q29(chr3:195690227-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 443479	GRCh37/hg19 3q29(chr3:195677309-197356334)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443234	GRCh37/hg19 3q29(chr3:195725290-197344176)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442134	GRCh37/hg19 3q29(chr3:195456034-197356334)x3	BDH1, CEP19 +23 more	Copy number gain	See cases	GUncertain significance
Select item 394253	GRCh37/hg19 3q29(chr3:195780280-197299752)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 267260	GRCh37/hg19 3q29(chr3:195756054-197344665)x1	DYNLT2B, FBXO45 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 253577	GRCh37/hg19 3q29(chr3:195690241-197299811)x1	NRROS, SENP5 +19 more	Copy number loss	See cases	GPathogenic
Select item 253357	GRCh37/hg19 3q29(chr3:196281672-197681798)x3	PAK2, PIGZ +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 152478	GRCh38/hg38 3q29(chr3:196724728-196754615)x3	LOC129938303, PAK2 +1 more	Copy number gain	See cases	GBenign
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic

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