SPIRE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
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 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 144318	GRCh38/hg38 18p11.21(chr18:12159446-12739785)	AFG3L2, ANKRD62 +23 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2648601	NM_001128626.2(SPIRE1):c.498T>C (p.Ala166=)	SPIRE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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