ClinVar for Gene (Select 5881) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056579	NM_005052.3(RAC3):c.477C>T (p.Ala159=)	RAC3 (P161S)	Single nucleotide variant (missense variant +1 more)	RAC3-related condition	GBenign
Select item 3051136	NM_005052.3(RAC3):c.306G>A (p.Arg102=)	RAC3	Single nucleotide variant (synonymous variant)	RAC3-related condition	GLikely benign
Select item 3046318	NM_005052.3(RAC3):c.*3C>G	RAC3	Single nucleotide variant (3 prime UTR variant)	RAC3-related condition	GLikely benign
Select item 3034656	NM_005052.3(RAC3):c.522C>T (p.Arg174=)	RAC3	Single nucleotide variant (3 prime UTR variant +1 more)	RAC3-related condition	GLikely benign
Select item 3034130	NM_005052.3(RAC3):c.235C>T (p.Leu79=)	RAC3	Single nucleotide variant (synonymous variant)	RAC3-related condition	GLikely benign
Select item 3026793	NM_005052.3(RAC3):c.12C>T (p.Ile4=)	RAC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025234	NM_005052.3(RAC3):c.277G>A (p.Val93Ile)	RAC3 (V93I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 3025052	NM_005052.3(RAC3):c.72G>A (p.Thr24=)	RAC3	Single nucleotide variant (synonymous variant)	RAC3-related condition +1 more	GLikely benign
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2663816	NM_005052.3(RAC3):c.276T>A (p.Asn92Lys)	RAC3 (N92K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic
Select item 2648480	NM_005052.3(RAC3):c.575T>C (p.Phe192Ser)	RAC3 (F192S)	Single nucleotide variant (3 prime UTR variant +1 more)	RAC3-related condition +1 more	GBenign/Likely benign
Select item 2648479	NM_005052.3(RAC3):c.495G>A (p.Leu165=)	RAC3 (E167K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2628836	NM_005052.3(RAC3):c.94T>C (p.Tyr32His)	RAC3 (Y32H)	Single nucleotide variant (missense variant)	RAC3-related condition	GUncertain significance
Select item 2612224	NM_005052.3(RAC3):c.449-5G>A	RAC3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2584507	NM_005052.3(RAC3):c.348G>C (p.Lys116Asn)	RAC3 (K116N)	Single nucleotide variant (missense variant)	RAC3-related disorder	GLikely pathogenic
Select item 2583144	NM_005052.3(RAC3):c.86C>G (p.Pro29Arg)	RAC3 (P29R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2431413	NM_005052.3(RAC3):c.203G>C (p.Arg68Pro)	RAC3 (R68P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GUncertain significance
Select item 2429057	NM_005052.3(RAC3):c.466G>A (p.Glu156Lys)	RAC3 (E156K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2233801	NM_005052.3(RAC3):c.413C>T (p.Thr138Ile)	RAC3 (T138I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806098	NM_005052.3(RAC3):c.179G>A (p.Gly60Asp)	RAC3 (G60D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GUncertain significance
Select item 1723153	NM_005052.3(RAC3):c.183GGA[1] (p.Glu62del)	RAC3 (E62del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 1695791	NM_005052.3(RAC3):c.203G>A (p.Arg68Gln)	RAC3 (R68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690919	NM_005052.3(RAC3):c.359G>A (p.Arg120His)	RAC3 (R120H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1687595	NM_005052.3(RAC3):c.134TGG[1] (p.Val46del)	RAC3 (V46del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GUncertain significance
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 982386	NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)	RAC3 (Y64C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic
Select item 977758	NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)	RAC3 (G12R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic
Select item 871529	NM_005052.3(RAC3):c.187G>A (p.Asp63Asn)	RAC3 (D63N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 585005	NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)	RAC3 (Q61L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +2 more	GPathogenic; association
Select item 585004	NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)	RAC3 (P29L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +2 more	GPathogenic; association
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 488059	NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	RAC3 (A59G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 425149	NM_005052.3(RAC3):c.184G>A (p.Glu62Lys)	RAC3 (E62K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 56