SORBS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	LOC129993480, LOC129993481 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	FAM149A, FAT1 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	LOC129993464, LOC129993465 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC129993464, LOC129993465 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	ACSL1, ANKRD37 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	LOC129993443, LOC129993444 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	LOC126807246, LOC126807247 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	ACSL1, ANKRD37 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	LOC129993452, LOC129993453 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	LOC129993511, LOC129993512 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 2400025	NM_001395207.1(SORBS2):c.3876C>A (p.Phe1292Leu)	LOC126807247, SORBS2 (F1083L +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268028	NM_001395207.1(SORBS2):c.3864C>A (p.Phe1288Leu)	LOC126807247, SORBS2 (F1051L +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399010	NM_001395207.1(SORBS2):c.3829G>A (p.Gly1277Ser)	SORBS2, SORBS2-AS1 (G1040S +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528571	NM_001395207.1(SORBS2):c.3727G>C (p.Gly1243Arg)	SORBS2, SORBS2-AS1 (G1034R +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507432	NM_001395207.1(SORBS2):c.3724G>T (p.Gly1242Trp)	SORBS2, SORBS2-AS1 (G1111W +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 2243896	NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)	SORBS2 (S1006R +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293718	NM_001395207.1(SORBS2):c.3637C>A (p.Pro1213Thr)	SORBS2 (P1051T +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617312	NM_001395207.1(SORBS2):c.3628C>T (p.Pro1210Ser)	SORBS2 (P1048S +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511231	NM_001395207.1(SORBS2):c.3589G>A (p.Val1197Ile)	SORBS2 (V1035I +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263853	NM_001395207.1(SORBS2):c.3499C>A (p.Leu1167Ile)	SORBS2 (L1038I +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234433	NM_001395207.1(SORBS2):c.3323G>A (p.Arg1108Lys)	SORBS2 (R1008K +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552999	NM_001395207.1(SORBS2):c.3305A>T (p.Glu1102Val)	SORBS2 (E1002V +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456153	NM_001395207.1(SORBS2):c.3169A>G (p.Arg1057Gly)	SORBS2 (R1043G +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282422	NM_001395207.1(SORBS2):c.3148G>T (p.Gly1050Trp)	SORBS2 (G394W +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287997	NM_001395207.1(SORBS2):c.3107G>A (p.Arg1036His)	SORBS2 (R1036H +24 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2526570	NM_001395207.1(SORBS2):c.3052G>A (p.Asp1018Asn)	SORBS2 (D1004N +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510137	NM_001395207.1(SORBS2):c.3017G>T (p.Gly1006Val)	SORBS2 (G806V +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269518	NM_001395207.1(SORBS2):c.2942G>T (p.Ser981Ile)	SORBS2 (S819I +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353407	NM_001395207.1(SORBS2):c.2930C>T (p.Ala977Val)	SORBS2 (A681V +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539007	NM_001395207.1(SORBS2):c.2905C>A (p.Pro969Thr)	SORBS2 (P754T +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223154	NM_001395207.1(SORBS2):c.2902G>A (p.Val968Ile)	SORBS2 (V687I +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2558634	NM_001395207.1(SORBS2):c.2807A>G (p.Lys936Arg)	SORBS2 (K655R +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254546	NM_001395207.1(SORBS2):c.2803C>T (p.Leu935Phe)	SORBS2 (L735F +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395666	NM_001395207.1(SORBS2):c.2733T>A (p.Asn911Lys)	SORBS2 (N630K +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533582	NM_001395207.1(SORBS2):c.2688A>C (p.Lys896Asn)	SORBS2 (K765N +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374960	NM_001395207.1(SORBS2):c.2657G>A (p.Arg886Lys)	SORBS2 (R590K +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354783	NM_001395207.1(SORBS2):c.2554C>T (p.His852Tyr)	SORBS2 (H637Y +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540714	NM_001395207.1(SORBS2):c.2510G>C (p.Gly837Ala)	SORBS2 (G541A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224527	NM_001395207.1(SORBS2):c.2411T>C (p.Val804Ala)	SORBS2 (V523A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603252	NM_001395207.1(SORBS2):c.2389G>A (p.Asp797Asn)	SORBS2 (D501N +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 723702	NM_001395207.1(SORBS2):c.2199C>T (p.Pro733=)	SORBS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2323276	NM_001395207.1(SORBS2):c.2077T>C (p.Trp693Arg)	SORBS2 (W397R +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550765	NM_001395207.1(SORBS2):c.2051A>C (p.Gln684Pro)	SORBS2 (Q628P +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398875	NM_001395207.1(SORBS2):c.1952A>G (p.Lys651Arg)	SORBS2 (K355R +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378720	NM_001395207.1(SORBS2):c.1882C>T (p.Pro628Ser)	SORBS2 (P347S +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318584	NM_001395207.1(SORBS2):c.1871C>T (p.Ser624Phe)	SORBS2 (S328F +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624233	NM_001395207.1(SORBS2):c.1867G>A (p.Gly623Arg)	SORBS2 (G494R +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411663	NM_001395207.1(SORBS2):c.1828T>C (p.Cys610Arg)	SORBS2 (C395R +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784047	NM_001395207.1(SORBS2):c.1825T>A (p.Leu609Ile)	SORBS2 (L313I +17 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2338764	NM_001395207.1(SORBS2):c.1769A>G (p.Asp590Gly)	SORBS2 (D309G +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619475	NM_001395207.1(SORBS2):c.1711A>G (p.Thr571Ala)	SORBS2 (T409A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317159	NM_001395207.1(SORBS2):c.1646C>T (p.Pro549Leu)	SORBS2 (P253L +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620395	NM_001395207.1(SORBS2):c.1581C>A (p.Asn527Lys)	SORBS2 (N358K +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494050	NM_001395207.1(SORBS2):c.1567G>T (p.Gly523Trp)	SORBS2 (G227W +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331187	NM_001395207.1(SORBS2):c.1542A>G (p.Ile514Met)	SORBS2 (I218M +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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