ClinVar for Gene (Select 56907) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322264	NM_001128626.2(SPIRE1):c.11C>A (p.Ala4Glu)	SPIRE1 (A4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322263	NM_001128626.2(SPIRE1):c.1235T>C (p.Val412Ala)	SPIRE1 (V398A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322262	NM_001128626.2(SPIRE1):c.104G>A (p.Gly35Asp)	SPIRE1 (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169201	NM_001128626.2(SPIRE1):c.875G>A (p.Arg292Gln)	SPIRE1 (R292Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169200	NM_001128626.2(SPIRE1):c.79G>C (p.Gly27Arg)	SPIRE1 (G27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169199	NM_001128626.2(SPIRE1):c.240C>G (p.His80Gln)	LOC130062200, SPIRE1 (H80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169198	NM_001128626.2(SPIRE1):c.2224G>C (p.Gly742Arg)	SPIRE1 (G608R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169197	NM_001128626.2(SPIRE1):c.2003G>T (p.Ser668Ile)	SPIRE1 (S534I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169196	NM_001128626.2(SPIRE1):c.1991G>A (p.Arg664Gln)	SPIRE1 (R453Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169195	NM_001128626.2(SPIRE1):c.1737A>T (p.Gln579His)	SPIRE1 (Q368H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169194	NM_001128626.2(SPIRE1):c.1583C>T (p.Thr528Met)	SPIRE1 (T317M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169193	NM_001128626.2(SPIRE1):c.1504A>G (p.Lys502Glu)	SPIRE1 (K291E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169192	NM_001128626.2(SPIRE1):c.1483T>A (p.Ser495Thr)	SPIRE1 (S284T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169191	NM_001128626.2(SPIRE1):c.1228T>C (p.Ser410Pro)	SPIRE1 (S410P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169190	NM_001128626.2(SPIRE1):c.11C>T (p.Ala4Val)	SPIRE1 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169189	NM_001128626.2(SPIRE1):c.1135G>A (p.Ala379Thr)	SPIRE1 (A271T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063538	GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3	AFG3L2, ANKRD62 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2648602	NM_001128626.2(SPIRE1):c.222C>T (p.Arg74=)	LOC130062200, SPIRE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648601	NM_001128626.2(SPIRE1):c.498T>C (p.Ala166=)	SPIRE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620248	NM_001128626.2(SPIRE1):c.1978A>C (p.Thr660Pro)	SPIRE1 (T449P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2565614	NM_001128626.2(SPIRE1):c.2212A>G (p.Met738Val)	SPIRE1 (M527V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558162	NM_001128626.2(SPIRE1):c.2147G>A (p.Ser716Asn)	SPIRE1 (S594N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511226	NM_001128626.2(SPIRE1):c.1594G>A (p.Val532Met)	SPIRE1 (V398M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510695	NM_001128626.2(SPIRE1):c.314C>G (p.Ala105Gly)	LOC130062200, SPIRE1 (A105G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495961	NM_001128626.2(SPIRE1):c.202T>G (p.Ser68Ala)	SPIRE1 (S68A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489664	NM_001128626.2(SPIRE1):c.1912A>G (p.Ile638Val)	SPIRE1 (I427V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472774	NM_001128626.2(SPIRE1):c.1177C>T (p.Arg393Cys)	SPIRE1 (R196C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471385	NM_001128626.2(SPIRE1):c.203C>T (p.Ser68Phe)	SPIRE1 (S68F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2426533	NC_000018.9:g.(?_10454979)_(12725530_?)del	AFG3L2, ANKRD62 +14 more	Deletion	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2404301	NM_001128626.2(SPIRE1):c.2255C>A (p.Thr752Lys)	SPIRE1 (T541K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378381	NM_001128626.2(SPIRE1):c.581G>A (p.Arg194Gln)	SPIRE1 (R74Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376621	NM_001128626.2(SPIRE1):c.113A>G (p.Asp38Gly)	SPIRE1 (D38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374195	NM_001128626.2(SPIRE1):c.1196G>A (p.Arg399Gln)	SPIRE1 (R399Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329513	NM_001128626.2(SPIRE1):c.71G>A (p.Arg24Gln)	SPIRE1 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323954	NM_001128626.2(SPIRE1):c.1987C>T (p.His663Tyr)	SPIRE1 (H529Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317023	NM_001128626.2(SPIRE1):c.377T>C (p.Ile126Thr)	SPIRE1 (I6T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277329	NM_001128626.2(SPIRE1):c.1757C>T (p.Thr586Ile)	SPIRE1 (T464I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275450	NM_001128626.2(SPIRE1):c.1948G>C (p.Glu650Gln)	SPIRE1 (E528Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263281	NM_001128626.2(SPIRE1):c.308A>C (p.Asp103Ala)	LOC130062200, SPIRE1 (D103A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257289	NM_001128626.2(SPIRE1):c.200G>A (p.Gly67Asp)	SPIRE1 (G67D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245122	NM_001128626.2(SPIRE1):c.1486A>T (p.Thr496Ser)	SPIRE1 (T285S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225103	NM_001128626.2(SPIRE1):c.1372A>G (p.Thr458Ala)	SPIRE1 (T336A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809411	GRCh37/hg19 18p11.21(chr18:12218695-12570235)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809347	GRCh37/hg19 18p11.21(chr18:12249702-12570235)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809166	GRCh37/hg19 18p11.21(chr18:12238850-12454719)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807752	GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3	AFG3L2, ANKRD30B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815980	GRCh37/hg19 18p11.21(chr18:12470600-12630435)x1	SPIRE1	Copy number loss	not provided	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 443872	GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1	AFG3L2, ANKRD30B +28 more	Copy number loss	See cases	GUncertain significance
Select item 442789	GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 442720	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic

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