CIRBP[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 145202	GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3	ATP5F1D, CBARP +42 more	Copy number gain	See cases	GBenign
Select item 152547	GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3	ATP5F1D, CBARP-DT +39 more	Copy number gain	See cases	GBenign
Select item 712226	NM_001300829.2(CIRBP):c.104-10C>T	CIRBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2600017	NM_001300829.2(CIRBP):c.170T>C (p.Ile57Thr)	CIRBP (I57T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145126	NM_001300829.2(CIRBP):c.272G>A (p.Arg91His)	CIRBP (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298329	NM_001300829.2(CIRBP):c.311T>A (p.Phe104Tyr)	CIRBP (F104Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145127	NM_001300829.2(CIRBP):c.335G>T (p.Arg112Leu)	CIRBP (R112L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564407	NM_001300829.2(CIRBP):c.344C>G (p.Ser115Cys)	CIRBP (S115C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476760	NM_001300829.2(CIRBP):c.347G>A (p.Arg116Lys)	CIRBP (R116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351782	NM_001300829.2(CIRBP):c.397G>C (p.Gly133Arg)	CIRBP (G133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513361	NM_001300829.2(CIRBP):c.469G>A (p.Gly157Ser)	CIRBP (G157S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727266	NM_001300829.2(CIRBP):c.639C>G (p.Ser213=)	CIRBP	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	ADAMTSL5, APC2 +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1807799	GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1	APC2, ATP5F1D +12 more	Copy number loss	not provided	GPathogenic
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 221536	GRCh37/hg19 19p13.3(chr19:1236038-1272435)x3	ATP5F1D, CBARP +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 45