23384[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067011, LOC130067012 +535 more	Copy number gain	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 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
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 59267	GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	BCR, C22orf15 +227 more	Copy number loss	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	IGLV4-3, LINC01659 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	ADORA2A, ADORA2A-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	LOC130067089, LOC130067090 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	LOC130067070, LOC130067071 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	LOC130067107, LOC130067108 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 1291907	NM_015330.6(SPECC1L):c.-37-135del	SPECC1L-ADORA2A, SPECC1L	Deletion (intron variant)	not provided	GBenign
Select item 1239666	NM_015330.6(SPECC1L):c.-37-134T>A	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652989	NM_015330.6(SPECC1L):c.-37-8T>C	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1514996	NM_015330.6(SPECC1L):c.26G>C (p.Gly9Ala)	SPECC1L, SPECC1L-ADORA2A (G9A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2306964	NM_015330.6(SPECC1L):c.41T>C (p.Val14Ala)	SPECC1L-ADORA2A, SPECC1L (V14A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 724620	NM_015330.6(SPECC1L):c.45T>C (p.Ser15=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition +1 more	GBenign
Select item 1574521	NM_015330.6(SPECC1L):c.59C>T (p.Thr20Met)	SPECC1L, SPECC1L-ADORA2A (T20M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2088826	NM_015330.6(SPECC1L):c.60G>T (p.Thr20=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 501515	NM_015330.6(SPECC1L):c.87A>T (p.Glu29Asp)	SPECC1L, SPECC1L-ADORA2A (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2466202	NM_015330.6(SPECC1L):c.106A>G (p.Thr36Ala)	SPECC1L-ADORA2A, SPECC1L (T36A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1443052	NM_015330.6(SPECC1L):c.131G>A (p.Gly44Glu)	SPECC1L, SPECC1L-ADORA2A (G44E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2630588	NM_015330.6(SPECC1L):c.152A>G (p.Lys51Arg)	SPECC1L, SPECC1L-ADORA2A (K51R)	Single nucleotide variant (missense variant +1 more)	SPECC1L-related condition	GUncertain significance
Select item 731574	NM_015330.6(SPECC1L):c.153+5T>G	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 3026242	NM_015330.6(SPECC1L):c.154-1252C>T	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2652990	NM_015330.6(SPECC1L):c.154-1238C>T	SPECC1L-ADORA2A, SPECC1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1899965	NM_015330.6(SPECC1L):c.154-18A>G	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871689	NM_015330.6(SPECC1L):c.155C>G (p.Thr52Ser)	SPECC1L, SPECC1L-ADORA2A (T52S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2327185	NM_015330.6(SPECC1L):c.164G>T (p.Ser55Ile)	SPECC1L, SPECC1L-ADORA2A (S55I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652991	NM_015330.6(SPECC1L):c.201G>A (p.Thr67=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1048863	NM_015330.6(SPECC1L):c.214G>A (p.Val72Ile)	SPECC1L, SPECC1L-ADORA2A (V72I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2560303	NM_015330.6(SPECC1L):c.230G>A (p.Ser77Asn)	SPECC1L, SPECC1L-ADORA2A (S77N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389730	NM_015330.6(SPECC1L):c.233C>T (p.Thr78Ile)	SPECC1L-ADORA2A, SPECC1L (T78I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2849852	NM_015330.6(SPECC1L):c.240A>G (p.Pro80=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 750494	NM_015330.6(SPECC1L):c.279C>T (p.Thr93=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 713241	NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe)	SPECC1L, SPECC1L-ADORA2A (S98F)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1693299	NM_015330.6(SPECC1L):c.298A>T (p.Ile100Phe)	SPECC1L, SPECC1L-ADORA2A (I100F)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related syndrome	GUncertain significance
Select item 1521474	NM_015330.6(SPECC1L):c.307+6G>A	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 788044	NM_015330.6(SPECC1L):c.310A>G (p.Thr104Ala)	SPECC1L, SPECC1L-ADORA2A (T104A)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition +1 more	GBenign/Likely benign
Select item 2229944	NM_015330.6(SPECC1L):c.326A>G (p.Lys109Arg)	SPECC1L, SPECC1L-ADORA2A (K109R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2071869	NM_015330.6(SPECC1L):c.329G>A (p.Arg110Gln)	SPECC1L, SPECC1L-ADORA2A (R110Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2264646	NM_015330.6(SPECC1L):c.331A>G (p.Ser111Gly)	SPECC1L-ADORA2A, SPECC1L (S111G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 872343	NM_015330.6(SPECC1L):c.331A>C (p.Ser111Arg)	SPECC1L, SPECC1L-ADORA2A (S111R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3046294	NM_015330.6(SPECC1L):c.351A>G (p.Lys117=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition	GLikely benign
Select item 2436282	NM_015330.6(SPECC1L):c.362C>T (p.Ser121Phe)	SPECC1L, SPECC1L-ADORA2A (S121F)	Single nucleotide variant (non-coding transcript variant +1 more)	SPECC1L-related condition +1 more	GUncertain significance
Select item 2580729	NM_015330.6(SPECC1L):c.367A>G (p.Arg123Gly)	SPECC1L, SPECC1L-ADORA2A (R123G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1389815	NM_015330.6(SPECC1L):c.373A>G (p.Arg125Gly)	SPECC1L, SPECC1L-ADORA2A (R125G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652992	NM_015330.6(SPECC1L):c.393A>T (p.Arg131=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2811611	NM_015330.6(SPECC1L):c.427C>T (p.Gln143Ter)	SPECC1L, SPECC1L-ADORA2A (Q143*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 731859	NM_015330.6(SPECC1L):c.463C>T (p.Arg155Cys)	SPECC1L, SPECC1L-ADORA2A (R155C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2970275	NM_015330.6(SPECC1L):c.464G>A (p.Arg155His)	SPECC1L, SPECC1L-ADORA2A (R155H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 161536	NM_015330.6(SPECC1L):c.464G>T (p.Arg155Leu)	SPECC1L, SPECC1L-ADORA2A (R155L)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 718789	NM_015330.6(SPECC1L):c.470G>A (p.Arg157Gln)	SPECC1L, SPECC1L-ADORA2A (R157Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 710285	NM_015330.6(SPECC1L):c.489C>T (p.Asp163=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652993	NM_015330.6(SPECC1L):c.490G>A (p.Val164Ile)	SPECC1L, SPECC1L-ADORA2A (V164I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2918593	NM_015330.6(SPECC1L):c.494G>A (p.Arg165His)	SPECC1L, SPECC1L-ADORA2A (R165H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 711743	NM_015330.6(SPECC1L):c.496A>G (p.Met166Val)	SPECC1L, SPECC1L-ADORA2A (M166V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2031050	NM_015330.6(SPECC1L):c.498del (p.Met166fs)	SPECC1L-ADORA2A, SPECC1L (M166fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2267876	NM_015330.6(SPECC1L):c.508A>G (p.Lys170Glu)	SPECC1L, SPECC1L-ADORA2A (K170E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1982265	NM_015330.6(SPECC1L):c.514G>A (p.Asp172Asn)	SPECC1L, SPECC1L-ADORA2A (D172N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1318935	NM_015330.6(SPECC1L):c.534_535del (p.Arg178fs)	SPECC1L, SPECC1L-ADORA2A (R178fs)	Microsatellite (non-coding transcript variant +1 more)	SPECC1L-related condition +1 more	GUncertain significance
Select item 1679678	NM_015330.6(SPECC1L):c.539C>G (p.Ala180Gly)	SPECC1L, SPECC1L-ADORA2A (A180G)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 2436278	NM_015330.6(SPECC1L):c.551A>G (p.Lys184Arg)	SPECC1L, SPECC1L-ADORA2A (K184R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1700871	NM_015330.6(SPECC1L):c.551A>C (p.Lys184Thr)	SPECC1L, SPECC1L-ADORA2A (K184T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2325231	NM_015330.6(SPECC1L):c.554T>A (p.Val185Glu)	SPECC1L, SPECC1L-ADORA2A (V185E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445410	NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)	SPECC1L-ADORA2A, SPECC1L (L188F)	Single nucleotide variant (non-coding transcript variant +1 more)	Oculomaxillofacial dysostosis +2 more	GBenign/Likely benign
Select item 2052725	NM_015330.6(SPECC1L):c.569C>T (p.Thr190Met)	SPECC1L, SPECC1L-ADORA2A (T190M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1282641	NM_015330.6(SPECC1L):c.570G>A (p.Thr190=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (synonymous variant +1 more)	Teebi hypertelorism syndrome +3 more	GBenign
Select item 2664281	NM_015330.6(SPECC1L):c.578A>G (p.Lys193Arg)	SPECC1L, SPECC1L-ADORA2A (K193R)	Single nucleotide variant (non-coding transcript variant +1 more)	Teebi hypertelorism syndrome 1	GUncertain significance
Select item 2652994	NM_015330.6(SPECC1L):c.588C>T (p.Asp196=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1335994	NM_015330.6(SPECC1L):c.600A>T (p.Leu200Phe)	SPECC1L, SPECC1L-ADORA2A (L200F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 2281349	NM_015330.6(SPECC1L):c.626T>C (p.Met209Thr)	SPECC1L-ADORA2A, SPECC1L (M209T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269054	NM_015330.6(SPECC1L):c.629G>A (p.Arg210His)	SPECC1L-ADORA2A, SPECC1L (R210H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2046114	NM_015330.6(SPECC1L):c.642C>T (p.Gly214=)	SPECC1L, SPECC1L-ADORA2A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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