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GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000051981.7

Allele description [Variation Report for GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3]

GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3

Genes:
  • OASL:2'-5'-oligoadenylate synthetase like [Gene - OMIM - HGNC]
  • HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]
  • LOC130008906:ATAC-STARR-seq lymphoblastoid active region 7114 [Gene]
  • LOC130008908:ATAC-STARR-seq lymphoblastoid active region 7115 [Gene]
  • LOC130008909:ATAC-STARR-seq lymphoblastoid active region 7116 [Gene]
  • LOC130008910:ATAC-STARR-seq lymphoblastoid active region 7117 [Gene]
  • LOC130008911:ATAC-STARR-seq lymphoblastoid active region 7118 [Gene]
  • LOC130008913:ATAC-STARR-seq lymphoblastoid active region 7119 [Gene]
  • LOC130008915:ATAC-STARR-seq lymphoblastoid active region 7120 [Gene]
  • LOC130008916:ATAC-STARR-seq lymphoblastoid active region 7121 [Gene]
  • LOC130008917:ATAC-STARR-seq lymphoblastoid active region 7124 [Gene]
  • LOC130008919:ATAC-STARR-seq lymphoblastoid active region 7128 [Gene]
  • LOC130008920:ATAC-STARR-seq lymphoblastoid active region 7129 [Gene]
  • LOC130008921:ATAC-STARR-seq lymphoblastoid active region 7130 [Gene]
  • LOC130008922:ATAC-STARR-seq lymphoblastoid active region 7131 [Gene]
  • LOC130008923:ATAC-STARR-seq lymphoblastoid active region 7132 [Gene]
  • LOC130008925:ATAC-STARR-seq lymphoblastoid active region 7133 [Gene]
  • LOC130008926:ATAC-STARR-seq lymphoblastoid active region 7134 [Gene]
  • LOC130008928:ATAC-STARR-seq lymphoblastoid active region 7135 [Gene]
  • LOC130008929:ATAC-STARR-seq lymphoblastoid active region 7136 [Gene]
  • LOC130008931:ATAC-STARR-seq lymphoblastoid active region 7137 [Gene]
  • LOC130008934:ATAC-STARR-seq lymphoblastoid active region 7138 [Gene]
  • LOC130008935:ATAC-STARR-seq lymphoblastoid active region 7139 [Gene]
  • LOC130008936:ATAC-STARR-seq lymphoblastoid active region 7140 [Gene]
  • LOC130008937:ATAC-STARR-seq lymphoblastoid active region 7141 [Gene]
  • LOC130008939:ATAC-STARR-seq lymphoblastoid active region 7142 [Gene]
  • LOC130008950:ATAC-STARR-seq lymphoblastoid active region 7146 [Gene]
  • LOC130008951:ATAC-STARR-seq lymphoblastoid active region 7147 [Gene]
  • LOC130008954:ATAC-STARR-seq lymphoblastoid active region 7148 [Gene]
  • LOC130008955:ATAC-STARR-seq lymphoblastoid active region 7149 [Gene]
  • LOC130008956:ATAC-STARR-seq lymphoblastoid active region 7150 [Gene]
  • LOC130008960:ATAC-STARR-seq lymphoblastoid active region 7151 [Gene]
  • LOC130008961:ATAC-STARR-seq lymphoblastoid active region 7154 [Gene]
  • LOC130008962:ATAC-STARR-seq lymphoblastoid active region 7155 [Gene]
  • LOC130008963:ATAC-STARR-seq lymphoblastoid active region 7156 [Gene]
  • LOC130008964:ATAC-STARR-seq lymphoblastoid active region 7157 [Gene]
  • LOC130008966:ATAC-STARR-seq lymphoblastoid active region 7158 [Gene]
  • LOC130008967:ATAC-STARR-seq lymphoblastoid active region 7159 [Gene]
  • LOC130008969:ATAC-STARR-seq lymphoblastoid active region 7161 [Gene]
  • LOC130008971:ATAC-STARR-seq lymphoblastoid active region 7162 [Gene]
  • LOC130008972:ATAC-STARR-seq lymphoblastoid active region 7163 [Gene]
  • LOC130008973:ATAC-STARR-seq lymphoblastoid active region 7164 [Gene]
  • LOC130008974:ATAC-STARR-seq lymphoblastoid active region 7165 [Gene]
  • LOC130008977:ATAC-STARR-seq lymphoblastoid active region 7169 [Gene]
  • LOC130008978:ATAC-STARR-seq lymphoblastoid active region 7170 [Gene]
  • LOC130008979:ATAC-STARR-seq lymphoblastoid active region 7171 [Gene]
  • LOC130008980:ATAC-STARR-seq lymphoblastoid active region 7172 [Gene]
  • LOC130008981:ATAC-STARR-seq lymphoblastoid active region 7173 [Gene]
  • LOC130008982:ATAC-STARR-seq lymphoblastoid active region 7175 [Gene]
  • LOC130008988:ATAC-STARR-seq lymphoblastoid active region 7176 [Gene]
  • LOC130008989:ATAC-STARR-seq lymphoblastoid active region 7177 [Gene]
  • LOC130008990:ATAC-STARR-seq lymphoblastoid active region 7178 [Gene]
  • LOC130008991:ATAC-STARR-seq lymphoblastoid active region 7181 [Gene]
  • LOC130008996:ATAC-STARR-seq lymphoblastoid active region 7182 [Gene]
  • LOC130008997:ATAC-STARR-seq lymphoblastoid active region 7183 [Gene]
  • LOC130008999:ATAC-STARR-seq lymphoblastoid active region 7184 [Gene]
  • LOC130009000:ATAC-STARR-seq lymphoblastoid active region 7185 [Gene]
  • LOC130009001:ATAC-STARR-seq lymphoblastoid active region 7187 [Gene]
  • LOC130009004:ATAC-STARR-seq lymphoblastoid active region 7188 [Gene]
  • LOC130009005:ATAC-STARR-seq lymphoblastoid active region 7189 [Gene]
  • LOC130009006:ATAC-STARR-seq lymphoblastoid active region 7190 [Gene]
  • LOC130009016:ATAC-STARR-seq lymphoblastoid active region 7192 [Gene]
  • LOC130009017:ATAC-STARR-seq lymphoblastoid active region 7193 [Gene]
  • LOC130009018:ATAC-STARR-seq lymphoblastoid active region 7194 [Gene]
  • LOC130009019:ATAC-STARR-seq lymphoblastoid active region 7195 [Gene]
  • LOC130009023:ATAC-STARR-seq lymphoblastoid active region 7196 [Gene]
  • LOC130009024:ATAC-STARR-seq lymphoblastoid active region 7197 [Gene]
  • LOC130009025:ATAC-STARR-seq lymphoblastoid active region 7198 [Gene]
  • LOC130009026:ATAC-STARR-seq lymphoblastoid active region 7199 [Gene]
  • LOC130009027:ATAC-STARR-seq lymphoblastoid active region 7200 [Gene]
  • LOC130009030:ATAC-STARR-seq lymphoblastoid active region 7201 [Gene]
  • LOC130009031:ATAC-STARR-seq lymphoblastoid active region 7202 [Gene]
  • LOC130009032:ATAC-STARR-seq lymphoblastoid active region 7203 [Gene]
  • LOC130009033:ATAC-STARR-seq lymphoblastoid active region 7204 [Gene]
  • LOC130009034:ATAC-STARR-seq lymphoblastoid active region 7205 [Gene]
  • LOC130009035:ATAC-STARR-seq lymphoblastoid active region 7206 [Gene]
  • LOC130009037:ATAC-STARR-seq lymphoblastoid active region 7209 [Gene]
  • LOC130009039:ATAC-STARR-seq lymphoblastoid active region 7210 [Gene]
  • LOC130009040:ATAC-STARR-seq lymphoblastoid active region 7211 [Gene]
  • LOC130009041:ATAC-STARR-seq lymphoblastoid active region 7214 [Gene]
  • LOC130009042:ATAC-STARR-seq lymphoblastoid active region 7215 [Gene]
  • LOC130009043:ATAC-STARR-seq lymphoblastoid active region 7216 [Gene]
  • LOC130009044:ATAC-STARR-seq lymphoblastoid active region 7219 [Gene]
  • LOC130009045:ATAC-STARR-seq lymphoblastoid active region 7220 [Gene]
  • LOC130009046:ATAC-STARR-seq lymphoblastoid active region 7221 [Gene]
  • LOC130009049:ATAC-STARR-seq lymphoblastoid active region 7222 [Gene]
  • LOC130009050:ATAC-STARR-seq lymphoblastoid active region 7223 [Gene]
  • LOC130009051:ATAC-STARR-seq lymphoblastoid active region 7224 [Gene]
  • LOC130009052:ATAC-STARR-seq lymphoblastoid active region 7225 [Gene]
  • LOC130009053:ATAC-STARR-seq lymphoblastoid active region 7226 [Gene]
  • LOC130009055:ATAC-STARR-seq lymphoblastoid active region 7230 [Gene]
  • LOC130009056:ATAC-STARR-seq lymphoblastoid active region 7231 [Gene]
  • LOC130009057:ATAC-STARR-seq lymphoblastoid active region 7232 [Gene]
  • LOC130008907:ATAC-STARR-seq lymphoblastoid silent region 4930 [Gene]
  • LOC130008912:ATAC-STARR-seq lymphoblastoid silent region 4931 [Gene]
  • LOC130008914:ATAC-STARR-seq lymphoblastoid silent region 4932 [Gene]
  • LOC130008918:ATAC-STARR-seq lymphoblastoid silent region 4941 [Gene]
  • LOC130008924:ATAC-STARR-seq lymphoblastoid silent region 4942 [Gene]
  • LOC130008927:ATAC-STARR-seq lymphoblastoid silent region 4943 [Gene]
  • LOC130008930:ATAC-STARR-seq lymphoblastoid silent region 4944 [Gene]
  • LOC130008932:ATAC-STARR-seq lymphoblastoid silent region 4945 [Gene]
  • LOC130008933:ATAC-STARR-seq lymphoblastoid silent region 4946 [Gene]
  • LOC130008938:ATAC-STARR-seq lymphoblastoid silent region 4949 [Gene]
  • LOC130008940:ATAC-STARR-seq lymphoblastoid silent region 4950 [Gene]
  • LOC130008941:ATAC-STARR-seq lymphoblastoid silent region 4951 [Gene]
  • LOC130008942:ATAC-STARR-seq lymphoblastoid silent region 4952 [Gene]
  • LOC130008943:ATAC-STARR-seq lymphoblastoid silent region 4954 [Gene]
  • LOC130008944:ATAC-STARR-seq lymphoblastoid silent region 4955 [Gene]
  • LOC130008945:ATAC-STARR-seq lymphoblastoid silent region 4956 [Gene]
  • LOC130008946:ATAC-STARR-seq lymphoblastoid silent region 4957 [Gene]
  • LOC130008947:ATAC-STARR-seq lymphoblastoid silent region 4958 [Gene]
  • LOC130008948:ATAC-STARR-seq lymphoblastoid silent region 4959 [Gene]
  • LOC130008949:ATAC-STARR-seq lymphoblastoid silent region 4960 [Gene]
  • LOC130008952:ATAC-STARR-seq lymphoblastoid silent region 4961 [Gene]
  • LOC130008953:ATAC-STARR-seq lymphoblastoid silent region 4962 [Gene]
  • LOC130008957:ATAC-STARR-seq lymphoblastoid silent region 4967 [Gene]
  • LOC130008958:ATAC-STARR-seq lymphoblastoid silent region 4968 [Gene]
  • LOC130008959:ATAC-STARR-seq lymphoblastoid silent region 4969 [Gene]
  • LOC130008965:ATAC-STARR-seq lymphoblastoid silent region 4970 [Gene]
  • LOC130008968:ATAC-STARR-seq lymphoblastoid silent region 4971 [Gene]
  • LOC130008970:ATAC-STARR-seq lymphoblastoid silent region 4972 [Gene]
  • LOC130008975:ATAC-STARR-seq lymphoblastoid silent region 4973 [Gene]
  • LOC130008976:ATAC-STARR-seq lymphoblastoid silent region 4974 [Gene]
  • LOC130008983:ATAC-STARR-seq lymphoblastoid silent region 4975 [Gene]
  • LOC130008984:ATAC-STARR-seq lymphoblastoid silent region 4976 [Gene]
  • LOC130008985:ATAC-STARR-seq lymphoblastoid silent region 4977 [Gene]
  • LOC130008986:ATAC-STARR-seq lymphoblastoid silent region 4980 [Gene]
  • LOC130008987:ATAC-STARR-seq lymphoblastoid silent region 4981 [Gene]
  • LOC130008992:ATAC-STARR-seq lymphoblastoid silent region 4984 [Gene]
  • LOC130008993:ATAC-STARR-seq lymphoblastoid silent region 4985 [Gene]
  • LOC130008994:ATAC-STARR-seq lymphoblastoid silent region 4986 [Gene]
  • LOC130008995:ATAC-STARR-seq lymphoblastoid silent region 4987 [Gene]
  • LOC130008998:ATAC-STARR-seq lymphoblastoid silent region 4988 [Gene]
  • LOC130009002:ATAC-STARR-seq lymphoblastoid silent region 4992 [Gene]
  • LOC130009003:ATAC-STARR-seq lymphoblastoid silent region 4993 [Gene]
  • LOC130009007:ATAC-STARR-seq lymphoblastoid silent region 4994 [Gene]
  • LOC130009008:ATAC-STARR-seq lymphoblastoid silent region 4995 [Gene]
  • LOC130009009:ATAC-STARR-seq lymphoblastoid silent region 4996 [Gene]
  • LOC130009010:ATAC-STARR-seq lymphoblastoid silent region 4997 [Gene]
  • LOC130009011:ATAC-STARR-seq lymphoblastoid silent region 4998 [Gene]
  • LOC130009012:ATAC-STARR-seq lymphoblastoid silent region 4999 [Gene]
  • LOC130009013:ATAC-STARR-seq lymphoblastoid silent region 5000 [Gene]
  • LOC130009014:ATAC-STARR-seq lymphoblastoid silent region 5001 [Gene]
  • LOC130009015:ATAC-STARR-seq lymphoblastoid silent region 5002 [Gene]
  • LOC130009020:ATAC-STARR-seq lymphoblastoid silent region 5003 [Gene]
  • LOC130009021:ATAC-STARR-seq lymphoblastoid silent region 5004 [Gene]
  • LOC130009022:ATAC-STARR-seq lymphoblastoid silent region 5006 [Gene]
  • LOC130009028:ATAC-STARR-seq lymphoblastoid silent region 5008 [Gene]
  • LOC130009029:ATAC-STARR-seq lymphoblastoid silent region 5009 [Gene]
  • LOC130009036:ATAC-STARR-seq lymphoblastoid silent region 5010 [Gene]
  • LOC130009038:ATAC-STARR-seq lymphoblastoid silent region 5011 [Gene]
  • LOC130009047:ATAC-STARR-seq lymphoblastoid silent region 5014 [Gene]
  • LOC130009048:ATAC-STARR-seq lymphoblastoid silent region 5015 [Gene]
  • LOC130009054:ATAC-STARR-seq lymphoblastoid silent region 5017 [Gene]
  • LOC130009058:ATAC-STARR-seq lymphoblastoid silent region 5018 [Gene]
  • BCL7A:BAF chromatin remodeling complex subunit BCL7A [Gene - OMIM - HGNC]
  • BICDL1:BICD family like cargo adaptor 1 [Gene - OMIM - HGNC]
  • LOC126861655:BRD4-independent group 4 enhancer GRCh37_chr12:120117012-120118211 [Gene]
  • LOC112163529:BRD4-independent group 4 enhancer GRCh37_chr12:120883528-120884727 [Gene]
  • CABP1-DT:CABP1 divergent transcript [Gene - HGNC]
  • CLIP1:CAP-Gly domain containing linker protein 1 [Gene - OMIM - HGNC]
  • CLIP1-AS1:CLIP1 antisense RNA 1 [Gene - HGNC]
  • LOC111556143:GATA motif-containing MPRA enhancer 88 [Gene]
  • GCN1:GCN1 activator of EIF2AK4 [Gene - OMIM - HGNC]
  • HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
  • HNF1A-AS1:HNF1A antisense RNA 1 [Gene - HGNC]
  • KDM2B-DT:KDM2B divergent transcript [Gene - HGNC]
  • LOC126861654:MED14-independent group 3 enhancer GRCh37_chr12:119807339-119808538 [Gene]
  • LOC126861657:MED14-independent group 3 enhancer GRCh37_chr12:120306702-120307901 [Gene]
  • LOC126861658:MED14-independent group 3 enhancer GRCh37_chr12:120622010-120623209 [Gene]
  • LOC126861660:MED14-independent group 3 enhancer GRCh37_chr12:121220845-121222044 [Gene]
  • LOC126861662:MED14-independent group 3 enhancer GRCh37_chr12:122293687-122294886 [Gene]
  • LOC126861663:MED14-independent group 3 enhancer GRCh37_chr12:122614034-122615233 [Gene]
  • MLXIP:MLX interacting protein [Gene - OMIM - HGNC]
  • MORN3:MORN repeat containing 3 [Gene - HGNC]
  • LOC129390572:MPRA-validated peak2000 silencer [Gene]
  • LOC129390573:MPRA-validated peak2001 silencer [Gene]
  • LOC129390574:MPRA-validated peak2004 silencer [Gene]
  • LOC129390575:MPRA-validated peak2005 silencer [Gene]
  • LOC129390576:MPRA-validated peak2007 silencer [Gene]
  • LOC129390577:MPRA-validated peak2014 silencer [Gene]
  • LOC129390578:MPRA-validated peak2016 silencer [Gene]
  • LOC129390579:MPRA-validated peak2017 silencer [Gene]
  • LOC129390580:MPRA-validated peak2019 silencer [Gene]
  • ORAI1:ORAI calcium release-activated calcium modulator 1 [Gene - OMIM - HGNC]
  • LOC126861656:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:120185956-120187155 [Gene]
  • LOC126861659:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:120668816-120670015 [Gene]
  • LOC126861661:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:121362870-121364069 [Gene]
  • POP5:POP5 homolog, ribonuclease P/MRP subunit [Gene - OMIM - HGNC]
  • PXN-AS1:PXN antisense RNA 1 [Gene - HGNC]
  • RAB35-AS1:RAB35 antisense RNA 1 [Gene - HGNC]
  • RAB35:RAB35, member RAS oncogene family [Gene - OMIM - HGNC]
  • RNU4-1:RNA, U4 small nuclear 1 [Gene - OMIM - HGNC]
  • RNU4-2:RNA, U4 small nuclear 2 [Gene - OMIM - HGNC]
  • SETD1B:SET domain containing 1B, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • LOC124849268:Sharpr-MPRA regulatory region 10749 [Gene]
  • LOC124849266:Sharpr-MPRA regulatory region 10891 [Gene]
  • LOC124849259:Sharpr-MPRA regulatory region 10951 [Gene]
  • LOC121466723:Sharpr-MPRA regulatory region 11163 [Gene]
  • LOC121466720:Sharpr-MPRA regulatory region 12439 [Gene]
  • LOC121466721:Sharpr-MPRA regulatory region 12947 [Gene]
  • LOC121466722:Sharpr-MPRA regulatory region 13012 [Gene]
  • LOC124849261:Sharpr-MPRA regulatory region 2080 [Gene]
  • LOC112163532:Sharpr-MPRA regulatory region 2179 [Gene]
  • LOC124849262:Sharpr-MPRA regulatory region 2229 [Gene]
  • LOC111776216:Sharpr-MPRA regulatory region 2985/8376 [Gene]
  • LOC112163530:Sharpr-MPRA regulatory region 4268 [Gene]
  • LOC121838566:Sharpr-MPRA regulatory region 5022 [Gene]
  • LOC112163528:Sharpr-MPRA regulatory region 763 [Gene]
  • LOC124849260:Sharpr-MPRA regulatory region 8824 [Gene]
  • LOC112163531:Sharpr-MPRA regulatory region 8907 [Gene]
  • LOC124849269:Sharpr-MPRA regulatory region 9757 [Gene]
  • LOC124849267:Sharpr-MPRA regulatory region 9922 [Gene]
  • TRIAP1:TP53 regulated inhibitor of apoptosis 1 [Gene - OMIM - HGNC]
  • B3GNT4:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Gene - OMIM - HGNC]
  • VPS33A:VPS33A core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • ACADS:acyl-CoA dehydrogenase short chain [Gene - OMIM - HGNC]
  • ANAPC5:anaphase promoting complex subunit 5 [Gene - OMIM - HGNC]
  • RSRC2:arginine and serine rich coiled-coil 2 [Gene - OMIM - HGNC]
  • CABP1:calcium binding protein 1 [Gene - OMIM - HGNC]
  • CAMKK2:calcium/calmodulin dependent protein kinase kinase 2 [Gene - OMIM - HGNC]
  • C12orf43:chromosome 12 open reading frame 43 [Gene - HGNC]
  • CFAP251:cilia and flagella associated protein 251 [Gene - OMIM - HGNC]
  • CIT:citron rho-interacting serine/threonine kinase [Gene - OMIM - HGNC]
  • COQ5:coenzyme Q5, methyltransferase [Gene - OMIM - HGNC]
  • CCDC60:coiled-coil domain containing 60 [Gene - HGNC]
  • COX6A1:cytochrome c oxidase subunit 6A1 [Gene - OMIM - HGNC]
  • DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]
  • DYNLL1:dynein light chain LC8-type 1 [Gene - OMIM - HGNC]
  • GATC:glutamyl-tRNA amidotransferase subunit C [Gene - OMIM - HGNC]
  • IL31:interleukin 31 [Gene - OMIM - HGNC]
  • KNTC1:kinetochore associated 1 [Gene - OMIM - HGNC]
  • LRRC43:leucine rich repeat containing 43 [Gene - HGNC]
  • LINC01089:long intergenic non-protein coding RNA 1089 [Gene - HGNC]
  • LINC02985:long intergenic non-protein coding RNA 2985 [Gene - HGNC]
  • LINC00934:long intergenic non-protein coding RNA 934 [Gene - HGNC]
  • KDM2B:lysine demethylase 2B [Gene - OMIM - HGNC]
  • MLEC:malectin [Gene - OMIM - HGNC]
  • MIR1178:microRNA 1178 [Gene - HGNC]
  • MIR4498:microRNA 4498 [Gene - HGNC]
  • MIR4700:microRNA 4700 [Gene - HGNC]
  • MIR7107:microRNA 7107 [Gene - HGNC]
  • MSI1:musashi RNA binding protein 1 [Gene - OMIM - HGNC]
  • NRAV:negative regulator of antiviral response [Gene - OMIM - HGNC]
  • PXN:paxillin [Gene - OMIM - HGNC]
  • PLA2G1B:phospholipase A2 group IB [Gene - OMIM - HGNC]
  • PSMD9:proteasome 26S subunit, non-ATPase 9 [Gene - OMIM - HGNC]
  • PRKAB1:protein kinase AMP-activated non-catalytic subunit beta 1 [Gene - OMIM - HGNC]
  • P2RX4:purinergic receptor P2X 4 [Gene - OMIM - HGNC]
  • P2RX7:purinergic receptor P2X 7 [Gene - OMIM - HGNC]
  • RHOF:ras homolog family member F, filopodia associated [Gene - OMIM - HGNC]
  • RPLP0:ribosomal protein lateral stalk subunit P0 [Gene - OMIM - HGNC]
  • RNF10:ring finger protein 10 [Gene - OMIM - HGNC]
  • RNF34:ring finger protein 34 [Gene - OMIM - HGNC]
  • SRSF9:serine and arginine rich splicing factor 9 [Gene - OMIM - HGNC]
  • SPPL3:signal peptide peptidase like 3 [Gene - OMIM - HGNC]
  • SIRT4:sirtuin 4 [Gene - OMIM - HGNC]
  • TMEM120B:transmembrane protein 120B [Gene - OMIM - HGNC]
  • TMEM233:transmembrane protein 233 [Gene - OMIM - HGNC]
  • UNC119B:unc-119 lipid binding chaperone B [Gene - OMIM - HGNC]
  • LOC101593348:uncharacterized LOC101593348 [Gene]
  • LOC105370027:uncharacterized LOC105370027 [Gene]
  • XLOC_009911:uncharacterized LOC105500240 [Gene]
  • LOC128071547:uncharacterized LOC128071547 [Gene]
  • LOC128125816:uncharacterized LOC128125816 [Gene]
  • ZCCHC8:zinc finger CCHC-type containing 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.23-24.31
Genomic location:
Preferred name:
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3
HGVS:
  • NC_000012.12:g.(?_119286893)_(122638552_?)dup
  • NC_000012.10:g.(?_118209081)_(121689052_?)dup
  • NC_000012.11:g.(?_119724698)_(123123099_?)dup
Links:
dbVar: nssv580808; dbVar: nsv530694
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079330ISCA site 15

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 15, SCV000079330.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024