11101[HGNC] - ClinVar

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

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1510409	NM_003601.4(SMARCA5):c.3G>A (p.Met1Ile)	SMARCA5, SMARCA5-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1707054	NM_003601.4(SMARCA5):c.23C>A (p.Pro8Gln)	SMARCA5, SMARCA5-AS1 (P8Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2611833	NM_003601.4(SMARCA5):c.57G>T (p.Lys19Asn)	SMARCA5, SMARCA5-AS1 (K19N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 740035	NM_003601.4(SMARCA5):c.78C>T (p.Ser26=)	SMARCA5, SMARCA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2222766	NM_003601.4(SMARCA5):c.119T>G (p.Val40Gly)	SMARCA5-AS1, SMARCA5 (V40G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281158	NM_003601.4(SMARCA5):c.131C>T (p.Ala44Val)	SMARCA5-AS1, SMARCA5 (A44V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405455	NM_003601.4(SMARCA5):c.140C>G (p.Ser47Cys)	SMARCA5-AS1, SMARCA5 (S47C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405456	NM_003601.4(SMARCA5):c.143C>G (p.Ala48Gly)	SMARCA5, SMARCA5-AS1 (A48G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491644	NM_003601.4(SMARCA5):c.146C>T (p.Ala49Val)	SMARCA5, SMARCA5-AS1 (A49V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728189	NM_003601.4(SMARCA5):c.153T>G (p.Ala51=)	SMARCA5, SMARCA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3048543	NM_003601.4(SMARCA5):c.161C>T (p.Ala54Val)	LOC129993145, SMARCA5 +1 more (A54V)	Single nucleotide variant (non-coding transcript variant +1 more)	SMARCA5-related condition	GLikely benign
Select item 2291205	NM_003601.4(SMARCA5):c.163G>A (p.Asp55Asn)	LOC129993145, SMARCA5 +1 more (D55N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409961	NM_003601.4(SMARCA5):c.166G>T (p.Ala56Ser)	LOC129993145, SMARCA5 +1 more (A56S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2205920	NM_003601.4(SMARCA5):c.167C>A (p.Ala56Asp)	LOC129993145, SMARCA5 +1 more (A56D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 773457	NM_003601.4(SMARCA5):c.276C>T (p.Phe92=)	SMARCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1803328	NM_003601.4(SMARCA5):c.292C>T (p.Gln98Ter)	SMARCA5 (Q98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2446525	NM_003601.4(SMARCA5):c.326C>T (p.Ala109Val)	SMARCA5 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621861	NM_003601.4(SMARCA5):c.364C>G (p.Pro122Ala)	SMARCA5 (P122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810687	NM_003601.4(SMARCA5):c.506A>G (p.Glu169Gly)	SMARCA5 (E169G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700498	NM_003601.4(SMARCA5):c.622G>A (p.Gly208Ser)	SMARCA5 (G208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708263	NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)	SMARCA5 (R312G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 599594	NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)	SMARCA5 (K314Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2630263	NM_003601.4(SMARCA5):c.1024AAC[1] (p.Asn343del)	SMARCA5 (N343del)	Microsatellite (inframe_deletion)	SMARCA5-related condition	GUncertain significance
Select item 2573918	NM_003601.4(SMARCA5):c.1159-8_1159-3del	SMARCA5	Deletion (intron variant)	not provided	GUncertain significance
Select item 2401057	NM_003601.4(SMARCA5):c.1240G>C (p.Val414Leu)	SMARCA5 (V414L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804056	NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)	SMARCA5	Deletion (inframe_deletion)	Short stature +3 more	GPathogenic
Select item 2204305	NM_003601.4(SMARCA5):c.1321A>G (p.Met441Val)	SMARCA5 (M441V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804330	NM_003601.4(SMARCA5):c.1378C>T (p.Pro460Ser)	SMARCA5 (P460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2508969	NM_003601.4(SMARCA5):c.1492C>A (p.Gln498Lys)	SMARCA5 (Q498K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313258	NM_003601.4(SMARCA5):c.1759C>A (p.Leu587Ile)	SMARCA5 (L587I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299068	NM_003601.4(SMARCA5):c.1768A>G (p.Met590Val)	SMARCA5 (M590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029131	NM_003601.4(SMARCA5):c.1859G>A (p.Arg620His)	SMARCA5 (R620H)	Single nucleotide variant (missense variant)	SMARCA5-related condition	GUncertain significance
Select item 2136005	NM_003601.4(SMARCA5):c.2016_2018del (p.Glu672del)	SMARCA5 (E672del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2300930	NM_003601.4(SMARCA5):c.2080A>G (p.Lys694Glu)	SMARCA5 (K694E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476102	NM_003601.4(SMARCA5):c.2175T>G (p.Ile725Met)	SMARCA5 (I725M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310740	NM_003601.4(SMARCA5):c.2207G>A (p.Arg736Gln)	SMARCA5 (R736Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2462250	NM_003601.4(SMARCA5):c.2416C>G (p.Leu806Val)	SMARCA5 (L806V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243603	NM_003601.4(SMARCA5):c.2594T>C (p.Ile865Thr)	SMARCA5 (I865T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541114	NM_003601.4(SMARCA5):c.2641A>G (p.Ile881Val)	SMARCA5 (I881V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804057	NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)	SMARCA5 (E893K)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GPathogenic
Select item 2662610	NM_003601.4(SMARCA5):c.2702T>C (p.Met901Thr)	SMARCA5 (M901T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061168	NM_003601.4(SMARCA5):c.2932C>T (p.Arg978Cys)	SMARCA5 (R978C)	Single nucleotide variant (missense variant)	SMARCA5-related condition	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 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

Search results

Items: 70