ClinVar for Gene (Select 57132) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267067	NM_020412.5(CHMP1B):c.346G>T (p.Asp116Tyr)	CHMP1B, GNAL +1 more (D116Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267066	NM_020412.5(CHMP1B):c.465A>C (p.Glu155Asp)	CHMP1B, GNAL +1 more (E155D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267065	NM_020412.5(CHMP1B):c.506C>T (p.Pro169Leu)	CHMP1B, GNAL +1 more (P169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267064	NM_020412.5(CHMP1B):c.161A>G (p.Asn54Ser)	CHMP1B, GNAL (N54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144438	NM_020412.5(CHMP1B):c.91G>C (p.Ala31Pro)	CHMP1B, GNAL (A31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144437	NM_020412.5(CHMP1B):c.396G>A (p.Met132Ile)	CHMP1B, GNAL +1 more (M132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144436	NM_020412.5(CHMP1B):c.316A>G (p.Met106Val)	CHMP1B, GNAL (M106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144435	NM_020412.5(CHMP1B):c.305C>T (p.Thr102Ile)	GNAL, LOC130062186 +1 more (T102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144434	NM_020412.5(CHMP1B):c.185C>A (p.Ala62Glu)	CHMP1B, GNAL (A62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144432	NM_020412.5(CHMP1B):c.170G>C (p.Arg57Pro)	CHMP1B, GNAL (R57P)	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 2684866	GRCh37/hg19 18p11.21(chr18:11430879-12004638)x3	CHMP1B, GNAL +3 more	Copy number gain	not provided	GUncertain significance
Select item 2611687	NM_020412.5(CHMP1B):c.175A>G (p.Lys59Glu)	CHMP1B, GNAL (K59E)	Single nucleotide variant (missense variant +1 more)	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 2535880	NM_020412.5(CHMP1B):c.217G>T (p.Asp73Tyr)	CHMP1B, GNAL (D73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528090	NM_020412.5(CHMP1B):c.595G>A (p.Val199Met)	CHMP1B, GNAL +1 more (V199M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513319	NM_020412.5(CHMP1B):c.445G>A (p.Val149Met)	CHMP1B, GNAL +1 more (V149M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508117	NM_020412.5(CHMP1B):c.127G>A (p.Gly43Ser)	CHMP1B, GNAL (G43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463143	NM_020412.5(CHMP1B):c.89A>G (p.Lys30Arg)	CHMP1B, GNAL (K30R)	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 2265746	NM_020412.5(CHMP1B):c.21C>G (p.His7Gln)	CHMP1B, GNAL (H7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215051	NM_020412.5(CHMP1B):c.143C>G (p.Ala48Gly)	CHMP1B, GNAL (A48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212845	NM_020412.5(CHMP1B):c.269A>C (p.Lys90Thr)	CHMP1B, GNAL +1 more (K90T)	Single nucleotide variant (missense variant +1 more)	not specified	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 1706491	GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1	MPPE1, NAPG +11 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 1526606	GRCh37/hg19 18p11.21(chr18:11723294-12125977)	ANKRD62, CHMP1B +3 more	Copy number loss	not specified	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 1460398	NC_000018.9:g.(?_11752433)_(11881134_?)del	CHMP1B, GNAL	Deletion	Dystonic disorder	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 1013393	NM_020412.5(CHMP1B):c.540G>T (p.Val180=)	CHMP1B, GNAL +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 929360	GRCh37/hg19 18p11.22-11.21(chr18:10140629-12236187)x3	ANKRD62, APCDD1 +7 more	Copy number gain	See cases	GUncertain significance
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 709152	NM_020412.5(CHMP1B):c.303G>A (p.Ala101=)	CHMP1B, GNAL +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689050	GRCh37/hg19 18p11.21(chr18:11723213-12125657)x1	ANKRD62, CHMP1B +3 more	Copy number loss	not provided	GPathogenic
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 564534	GRCh37/hg19 18p11.22-11.21(chr18:10594361-11915610)x3	GNAL, PIEZO2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564524	GRCh37/hg19 18p11.21(chr18:11109971-11953187)x3	SLC35G4, GNAL +3 more	Copy number gain	not provided	GUncertain significance
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 425529	GRCh37/hg19 18p11.21(chr18:11752397-11881133)x3	CHMP1B, GNAL	Copy number gain	not provided	GLikely pathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 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
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	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 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	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 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
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 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	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 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic

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