ClinVar for Gene (Select 5881) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381328	NM_005052.3(RAC3):c.520C>T (p.Arg174Cys)	RAC3 (R174C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3377716	NM_005052.3(RAC3):c.389G>A (p.Arg130Gln)	RAC3 (R130Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GUncertain significance
Select item 3372318	NM_005052.3(RAC3):c.288G>A (p.Lys96=)	RAC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368056	NM_005052.3(RAC3):c.519C>G (p.Ile173Met)	RAC3 (I173M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3364872	NM_005052.3(RAC3):c.536C>A (p.Pro179Gln)	RAC3 (P179Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3360124	NM_005052.3(RAC3):c.36-6C>G	RAC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3352104	NM_005052.3(RAC3):c.573C>T (p.Val191=)	RAC3	Single nucleotide variant (3 prime UTR variant +1 more)	RAC3-related disorder	GLikely benign
Select item 3347558	NM_005052.3(RAC3):c.193G>A (p.Asp65Asn)	RAC3 (D65N)	Single nucleotide variant (missense variant)	RAC3-related disorder	GLikely pathogenic
Select item 3340843	NM_005052.3(RAC3):c.164T>A (p.Leu55Gln)	RAC3 (L55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3239472	NM_005052.3(RAC3):c.480G>A (p.Leu160=)	RAC3 (D162N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3150974	NM_005052.3(RAC3):c.292T>C (p.Tyr98His)	RAC3 (Y98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056579	NM_005052.3(RAC3):c.477C>T (p.Ala159=)	RAC3 (P161S)	Single nucleotide variant (missense variant +1 more)	RAC3-related disorder	GBenign
Select item 3051136	NM_005052.3(RAC3):c.306G>A (p.Arg102=)	RAC3	Single nucleotide variant (synonymous variant)	RAC3-related disorder	GLikely benign
Select item 3046318	NM_005052.3(RAC3):c.*3C>G	RAC3	Single nucleotide variant (3 prime UTR variant)	RAC3-related disorder	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 disorder	GLikely benign
Select item 3034130	NM_005052.3(RAC3):c.235C>T (p.Leu79=)	RAC3	Single nucleotide variant (synonymous variant)	RAC3-related disorder	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)	not provided	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)	not provided	GBenign
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 disorder	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	FOXK2, GCGR +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	ACTG1, ALYREF +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	EVPL, EXOC7 +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)	Abnormal brain morphology +2 more	GPathogenic; association
Select item 585004	NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)	RAC3 (P29L)	Single nucleotide variant (missense variant)	Abnormal brain morphology +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 +2 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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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	ACTG1, ALYREF +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	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +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

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Links from Gene

Items: 68