ClinVar for Gene (Select 693234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	LINC01637, LINC01651 +72 more	Copy number loss	22q11.2 central deletion syndrome	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 1703237	Single allele	AIFM3, LOC130066960 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC108510655, LOC110120888 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1696679	Single allele	AIFM3, CRKL +36 more	Duplication	not provided	GUncertain significance
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 545269	NC_000022.11:g.(?_20358985)_(21123588_?)del	AIFM3, CRKL +63 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545268	NC_000022.11:g.(?_20346735)_(21277123_?)del	LOC129391267, LOC129391268 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545267	NC_000022.11:g.(?_20346735)_(21149007_?)del	AIFM3, CRKL +65 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545266	Single allele	AIFM3, ARVCF +166 more	Duplication	Autism	GPathogenic
Select item 545265	Single allele	AIFM3, ARVCF +179 more	Duplication	Autism	GPathogenic
Select item 545263	NC_000022.11:g.(?_18880919)_(21123588_?)del	LOC132090919, LOC132090920 +175 more	Deletion	Schizophrenia	GPathogenic
Select item 545261	NC_000022.11:g.(?_18846939)_(21221413_?)del	LOC130067012, LOC130067013 +180 more	Deletion	Schizophrenia	GPathogenic
Select item 545260	NC_000022.11:g.(?_18832909)_(21123588_?)del	AIFM3, ARVCF +175 more	Deletion	Schizophrenia	GPathogenic
Select item 545259	NC_000022.11:g.(?_18802709)_(21343709_?)del	AIFM3, ARVCF +181 more	Deletion	Schizophrenia	GPathogenic
Select item 545258	NC_000022.11:g.(?_18163926)_(21277123_?)del	PI4KA, PRODH +192 more	Deletion	Schizophrenia	GPathogenic
Select item 545257	NC_000022.11:g.(?_18159879)_(21387988_?)del	AIFM3, ARVCF +196 more	Deletion	Schizophrenia	GPathogenic
Select item 545256	NC_000022.11:g.(?_18159879)_(21362822_?)del	AIFM3, ARVCF +195 more	Deletion	Schizophrenia	GPathogenic
Select item 161048	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1	AIFM3, ARVCF +195 more	Copy number loss	See cases	GPathogenic
Select item 161042	GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 160986	GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3	AIFM3, CRKL +34 more	Copy number gain	See cases	GPathogenic
Select item 160984	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 160956	GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1	AIFM3, ARVCF +190 more	Copy number loss	See cases	GPathogenic
Select item 160947	GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	CLDN5, AIFM3 +189 more	Copy number loss	See cases	GPathogenic
Select item 160938	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 160922	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 160891	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160849	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160848	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 160847	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 160846	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 160845	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	LOC130066971, LOC130066972 +185 more	Copy number loss	See cases	GPathogenic
Select item 160843	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 160782	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 155472	GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1	AIFM3, CRKL +34 more	Copy number loss	See cases	GUncertain significance
Select item 155375	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155324	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 155295	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155226	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	LINC00896, LINC01311 +185 more	Copy number loss	See cases	GPathogenic
Select item 155167	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	TBX1, THAP7 +185 more	Copy number loss	See cases	GPathogenic
Select item 155162	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 155158	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 155059	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 154921	GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1	AIFM3, ARVCF +184 more	Copy number loss	See cases	GUncertain significance
Select item 154816	GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3	AIFM3, CRKL +61 more	Copy number gain	See cases	GUncertain significance
Select item 154716	GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1	LOC114004361, LOC116309126 +196 more	Copy number loss	See cases	GPathogenic
Select item 154667	GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1	AIFM3, ARVCF +191 more	Copy number loss	See cases	GPathogenic
Select item 154603	GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1	AIFM3, ARVCF +184 more	Copy number loss	See cases	GUncertain significance
Select item 154574	GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 154119	GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	LOC130066995, LOC130066996 +187 more	Copy number loss	See cases	GPathogenic
Select item 154004	GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3	AIFM3, CRKL +63 more	Copy number gain	See cases	GUncertain significance
Select item 153966	GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	AIFM3, ARVCF +187 more	Copy number loss	See cases	GPathogenic
Select item 153900	GRCh38/hg38 22q11.21(chr22:20363364-21111373)x1	AIFM3, CRKL +63 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 153820	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 153292	GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	AIFM3, ARVCF +187 more	Copy number gain	See cases	GPathogenic
Select item 153245	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 153208	GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1	LOC125424387, LOC125424388 +195 more	Copy number loss	See cases	GPathogenic
Select item 152915	GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3	AIFM3, ARVCF +186 more	Copy number gain	See cases	GPathogenic
Select item 152705	GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	FAM246B, FAM246C +378 more	Copy number loss	See cases	GPathogenic
Select item 152266	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	LOC130066964, LOC130066965 +185 more	Copy number loss	See cases	GPathogenic
Select item 152138	GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 152136	GRCh38/hg38 22q11.21(chr22:20400132-21107463)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GPathogenic
Select item 151357	GRCh38/hg38 22q11.21(chr22:20375098-21111370)x3	LOC130067019, LOC130067020 +62 more	Copy number gain	See cases	GUncertain significance
Select item 151229	GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3	LOC130067019, LOC130067020 +185 more	Copy number gain	See cases	GPathogenic
Select item 150466	GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	AIFM3, ARVCF +287 more	Copy number gain	See cases	GPathogenic
Select item 150399	GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1	AIFM3, CRKL +34 more	Copy number loss	See cases	GUncertain significance
Select item 150398	GRCh38/hg38 22q11.21(chr22:20711594-21151128)x3	AIFM3, CRKL +34 more	Copy number gain	See cases	GUncertain significance
Select item 150093	GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3	AIFM3, ARVCF +185 more	Copy number gain	See cases	GPathogenic
Select item 149840	GRCh38/hg38 22q11.21(chr22:20812202-21053392)x3	AIFM3, CRKL +26 more	Copy number gain	See cases	GUncertain significance
Select item 149712	GRCh38/hg38 22q11.21(chr22:20378147-21151128)x1	AIFM3, CRKL +61 more	Copy number loss	See cases	GUncertain significance
Select item 149698	GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 149307	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 149129	GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3	AIFM3, ARVCF +195 more	Copy number gain	See cases	GPathogenic
Select item 149111	GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1	LOC126863097, LOC126863098 +185 more	Copy number loss	See cases	GPathogenic
Select item 148923	GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 148898	GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1	HSERVPRODH, KLHL22 +185 more	Copy number loss	See cases	GPathogenic
Select item 148862	GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3	AIFM3, ARVCF +194 more	Copy number gain	See cases	GUncertain significance
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 148430	GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1	AIFM3, ARVCF +186 more	Copy number loss	See cases	GPathogenic
Select item 147737	GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	AIFM3, BCR +265 more	Copy number loss	See cases	GPathogenic
Select item 147591	GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1	LOC130066964, LOC130066965 +195 more	Copy number loss	See cases	GPathogenic
Select item 147498	GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GPathogenic
Select item 147340	GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3	AIFM3, CRKL +67 more	Copy number gain	See cases	GUncertain significance
Select item 147320	GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1	AIFM3, ARVCF +185 more	Copy number loss	See cases	GUncertain significance
Select item 147308	GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3	LOC130066994, LOC130066995 +192 more	Copy number gain	See cases	GPathogenic
Select item 146800	GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1	AIFM3, LOC129391265 +61 more	Copy number loss	See cases	GPathogenic
Select item 146309	GRCh38/hg38 22q11.21(chr22:20671366-21151128)x4	AIFM3, CRKL +36 more	Copy number gain	See cases	GPathogenic
Select item 146204	GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3	LINC01637, LINC02891 +186 more	Copy number gain	See cases	GPathogenic
Select item 146133	GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3	AIFM3, ARVCF +189 more	Copy number gain	See cases	GPathogenic
Select item 145982	GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	LOC129391262, LOC129391263 +186 more	Copy number gain	See cases	GPathogenic
Select item 145807	GRCh38/hg38 22q11.21(chr22:21033611-21107463)x3	LOC129391267, LRRC74B +1 more	Copy number gain	See cases	GBenign
Select item 145536	GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	IGL, IGLV4-69 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145469	GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	AIFM3, ARVCF +189 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145120	GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1	AIFM3, CRKL +52 more	Copy number loss	See cases	GPathogenic
Select item 145119	GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3	AIFM3, CRKL +33 more	Copy number gain	See cases	GPathogenic

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