ClinVar for Gene (Select 8470) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3167514	NM_001395207.1(SORBS2):c.1399C>T (p.Arg467Trp)	SORBS2 (R171W +22 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167513	NM_001395207.1(SORBS2):c.836C>T (p.Pro279Leu)	SORBS2 (P164L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167510	NM_001395207.1(SORBS2):c.586G>C (p.Asp196His)	SORBS2 (D142H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167509	NM_001395207.1(SORBS2):c.3349G>A (p.Val1117Ile)	SORBS2 (V1103I +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167508	NM_001395207.1(SORBS2):c.3160C>G (p.Pro1054Ala)	SORBS2 (P246A +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167507	NM_001395207.1(SORBS2):c.3062A>G (p.Asn1021Ser)	SORBS2 (N740S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3167505	NM_001395207.1(SORBS2):c.544G>A (p.Gly182Arg)	SORBS2 (G151R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167504	NM_001395207.1(SORBS2):c.3047A>G (p.Asp1016Gly)	SORBS2 (D1016G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167503	NM_001395207.1(SORBS2):c.2920T>C (p.Ser974Pro)	SORBS2 (S678P +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167502	NM_001395207.1(SORBS2):c.2846G>A (p.Gly949Glu)	SORBS2 (G653E +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167500	NM_001395207.1(SORBS2):c.2770A>G (p.Lys924Glu)	SORBS2 (K724E +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167499	NM_001395207.1(SORBS2):c.2580G>T (p.Arg860Ser)	SORBS2 (R799S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167498	NM_001395207.1(SORBS2):c.2549A>G (p.His850Arg)	SORBS2 (H641R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167497	NM_001395207.1(SORBS2):c.2287C>T (p.Pro763Ser)	SORBS2 (P467S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167496	NM_001395207.1(SORBS2):c.2157G>T (p.Lys719Asn)	SORBS2 (K588N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167495	NM_001395207.1(SORBS2):c.1742C>T (p.Ser581Phe)	SORBS2 (S381F +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	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 3025068	NM_001395207.1(SORBS2):c.549C>T (p.Ile183=)	SORBS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024736	NM_001395207.1(SORBS2):c.256-3829A>G	SORBS2 (S291G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 2685136	GRCh37/hg19 4q35.1-35.2(chr4:186805036-188558860)x1	CYP4V2, F11 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2624233	NM_001395207.1(SORBS2):c.1867G>A (p.Gly623Arg)	SORBS2 (G494R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621091	NM_001395207.1(SORBS2):c.635A>G (p.Asp212Gly)	SORBS2 (D175G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2617312	NM_001395207.1(SORBS2):c.3628C>T (p.Pro1210Ser)	SORBS2 (P1048S +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2590165	NM_001395207.1(SORBS2):c.674A>G (p.Asn225Ser)	SORBS2 (N171S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558634	NM_001395207.1(SORBS2):c.2807A>G (p.Lys936Arg)	SORBS2 (K655R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552999	NM_001395207.1(SORBS2):c.3305A>T (p.Glu1102Val)	SORBS2 (E1002V +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2537665	NM_001395207.1(SORBS2):c.854G>A (p.Arg285Gln)	SORBS2 (R231Q +12 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2526570	NM_001395207.1(SORBS2):c.3052G>A (p.Asp1018Asn)	SORBS2 (D1004N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511231	NM_001395207.1(SORBS2):c.3589G>A (p.Val1197Ile)	SORBS2 (V1035I +24 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510137	NM_001395207.1(SORBS2):c.3017G>T (p.Gly1006Val)	SORBS2 (G806V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2494105	NM_001395207.1(SORBS2):c.1463G>C (p.Ser488Thr)	SORBS2 (S207T +22 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2477019	NM_001395207.1(SORBS2):c.619A>G (p.Met207Val)	SORBS2 (M170V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467707	NM_001395207.1(SORBS2):c.691C>G (p.Pro231Ala)	SORBS2 (P116A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456154	NM_001395207.1(SORBS2):c.383G>A (p.Gly128Asp)	SORBS2 (G128D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456153	NM_001395207.1(SORBS2):c.3169A>G (p.Arg1057Gly)	SORBS2 (R1043G +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2400025	NM_001395207.1(SORBS2):c.3876C>A (p.Phe1292Leu)	LOC126807247, SORBS2 (F1083L +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2390477	NM_001395207.1(SORBS2):c.812C>T (p.Pro271Leu)	SORBS2 (P257L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387220	NM_001395207.1(SORBS2):c.382G>A (p.Gly128Ser)	SORBS2 (G114S +7 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2365904	NM_001395207.1(SORBS2):c.1442G>A (p.Arg481Gln)	SORBS2 (R185Q +22 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2342023	NM_001395207.1(SORBS2):c.1421C>T (p.Ala474Val)	SORBS2 (A312V +22 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338764	NM_001395207.1(SORBS2):c.1769A>G (p.Asp590Gly)	SORBS2 (D309G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GLikely benign
Select item 2323276	NM_001395207.1(SORBS2):c.2077T>C (p.Trp693Arg)	SORBS2 (W397R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2293718	NM_001395207.1(SORBS2):c.3637C>A (p.Pro1213Thr)	SORBS2 (P1051T +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287997	NM_001395207.1(SORBS2):c.3107G>A (p.Arg1036His)	SORBS2 (R1036H +24 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282422	NM_001395207.1(SORBS2):c.3148G>T (p.Gly1050Trp)	SORBS2 (G394W +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2268028	NM_001395207.1(SORBS2):c.3864C>A (p.Phe1288Leu)	LOC126807247, SORBS2 (F1051L +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263853	NM_001395207.1(SORBS2):c.3499C>A (p.Leu1167Ile)	SORBS2 (L1038I +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2247396	NM_001395207.1(SORBS2):c.422C>T (p.Ala141Val)	SORBS2 (A104V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243896	NM_001395207.1(SORBS2):c.3645C>G (p.Ser1215Arg)	SORBS2 (S1006R +24 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234433	NM_001395207.1(SORBS2):c.3323G>A (p.Arg1108Lys)	SORBS2 (R1008K +24 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 1808757	GRCh37/hg19 4q35.1(chr4:186386587-186811571)x1	CCDC110, PDLIM3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1704311	GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3	CYP4V2, F11 +6 more	Copy number gain	Craniofacial microsomia 1	GUncertain significance
Select item 1527146	GRCh37/hg19 4q35.1-35.2(chr4:186686044-190842022)	CYP4V2, F11 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1527145	GRCh37/hg19 4q35.1(chr4:186600863-186943371)	SORBS2	Copy number loss	not specified	GUncertain significance
Select item 1527144	GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)	KLKB1, LRP2BP +15 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1433110	NC_000004.11:g.(?_186423448)_(187630981_?)dup	CYP4V2, F11 +7 more	Duplication	not provided	GUncertain significance
Select item 1374349	NC_000004.11:g.(?_186064527)_(187630981_?)del	ANKRD37, CCDC110 +15 more	Deletion	not provided	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic

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