ClinVar for Gene (Select 9391) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341100	NM_004804.3:c.905A>C transversion, resulting in a his302-to-pro (H302P; 604333.0002)	CIAO1	Deletion	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10	GPathogenic
Select item 3341099	NM_004804.3(CIAO1):c.752A>T (p.His251Leu)	CIAO1 (H251L)	Single nucleotide variant (missense variant)	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10	GPathogenic
Select item 3341098	NM_004804.3(CIAO1):c.512A>G (p.Asp171Gly)	CIAO1, LOC126806271 (D171G)	Single nucleotide variant (missense variant)	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10	GPathogenic
Select item 3341097	NM_004804.3(CIAO1):c.193C>T (p.Arg65Trp)	CIAO1 (R65W)	Single nucleotide variant (missense variant)	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10	GPathogenic
Select item 3341096	NM_004804.3(CIAO1):c.905A>C (p.His302Pro)	CIAO1 (H302P)	Single nucleotide variant (missense variant)	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10	GPathogenic
Select item 3267300	NM_004804.3(CIAO1):c.454G>T (p.Asp152Tyr)	CIAO1, LOC126806271 (D152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267299	NM_004804.3(CIAO1):c.745G>A (p.Gly249Ser)	CIAO1 (G249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3144865	NM_004804.3(CIAO1):c.958G>A (p.Ala320Thr)	CIAO1 (A320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144863	NM_004804.3(CIAO1):c.1006C>G (p.Pro336Ala)	CIAO1 (P336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063543	GRCh37/hg19 2q11.2(chr2:96917560-96934823)x1	CIAO1, TMEM127	Copy number loss	not specified	GPathogenic
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 2651142	NM_004804.3(CIAO1):c.303C>T (p.Leu101=)	CIAO1, LOC126806271	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598102	NM_004804.3(CIAO1):c.1004G>A (p.Arg335Gln)	CIAO1 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589974	NM_004804.3(CIAO1):c.68C>G (p.Ala23Gly)	CIAO1 (A23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569882	NM_004804.3(CIAO1):c.646C>T (p.Arg216Cys)	CIAO1, LOC126806271 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555899	NM_004804.3(CIAO1):c.150G>T (p.Trp50Cys)	CIAO1 (W50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542589	NM_004804.3(CIAO1):c.1016T>C (p.Leu339Pro)	CIAO1 (L339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467251	NM_004804.3(CIAO1):c.487G>C (p.Glu163Gln)	CIAO1, LOC126806271 (E163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372638	NM_004804.3(CIAO1):c.829C>T (p.Arg277Cys)	CIAO1 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368862	NM_004804.3(CIAO1):c.217G>A (p.Gly73Ser)	CIAO1 (G73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363924	NM_004804.3(CIAO1):c.98C>T (p.Ser33Leu)	CIAO1 (S33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346965	NM_004804.3(CIAO1):c.655C>T (p.Arg219Cys)	CIAO1 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311417	NM_004804.3(CIAO1):c.683A>G (p.Asn228Ser)	CIAO1 (N228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291421	NM_004804.3(CIAO1):c.440A>G (p.Asn147Ser)	CIAO1, LOC126806271 (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256252	NM_004804.3(CIAO1):c.77C>T (p.Pro26Leu)	CIAO1 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217771	NM_004804.3(CIAO1):c.349G>A (p.Gly117Ser)	CIAO1, LOC126806271 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807978	GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)x3	ADRA2B, ANKRD36C +7 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	ADRA2B, ARID5A +12 more	Duplication	not provided	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 833194	NC_000002.12:g.(?_96267321)_(96305437_?)del	CIAO1, SNRNP200	Deletion	not provided	GUncertain significance
Select item 831315	NC_000002.11:g.(?_96780545)_(96994037_?)dup	ADRA2B, ASTL +6 more	Duplication	not provided	GUncertain significance
Select item 831270	NC_000002.11:g.(?_96780545)_(96971175_?)dup	ADRA2B, ASTL +5 more	Duplication	not provided	GUncertain significance
Select item 814285	GRCh37/hg19 2q11.2(chr2:96939073-97086456)x1	NCAPH, CIAO1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic
Select item 685047	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3	ASTL, CIAO1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 638119	GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562643	GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1	ADRA2B, ANKRD23 +22 more	Copy number loss	not provided	GUncertain significance
Select item 562641	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443435	GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443169	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442814	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	See cases	GLikely benign
Select item 441953	GRCh37/hg19 2q11.1-11.2(chr2:96097383-97679933)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	See cases	GUncertain significance
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 395658	GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3	ADRA2B, ANKRD23 +18 more	Copy number gain	See cases	GUncertain significance
Select item 395484	GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 90