DBX1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 3080225	NM_001029865.4(DBX1):c.973T>C (p.Phe325Leu)	DBX1, LOC126861159 (F325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080224	NM_001029865.4(DBX1):c.940G>A (p.Ala314Thr)	DBX1, LOC126861159 (A314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080223	NM_001029865.4(DBX1):c.931C>A (p.Pro311Thr)	DBX1, LOC126861159 (P311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293993	NM_001029865.4(DBX1):c.919G>C (p.Gly307Arg)	DBX1, LOC126861159 (G307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462604	NM_001029865.4(DBX1):c.827A>C (p.Glu276Ala)	DBX1, LOC126861159 (E276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206329	NM_001029865.4(DBX1):c.818C>A (p.Pro273His)	DBX1, LOC126861159 (P273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371149	NM_001029865.4(DBX1):c.812A>G (p.Lys271Arg)	DBX1, LOC126861159 (K271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604311	NM_001029865.4(DBX1):c.766C>T (p.Pro256Ser)	DBX1, LOC126861159 (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542140	NM_001029865.4(DBX1):c.737C>G (p.Ser246Cys)	DBX1, LOC126861159 (S246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641685	NM_001029865.4(DBX1):c.735G>A (p.Leu245=)	DBX1, LOC126861159	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275123	NM_001029865.4(DBX1):c.734T>G (p.Leu245Arg)	DBX1, LOC126861159 (L245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080222	NM_001029865.4(DBX1):c.511C>A (p.Pro171Thr)	DBX1, LOC126861159 (P171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461271	NM_001029865.4(DBX1):c.406A>T (p.Thr136Ser)	DBX1 (T136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252101	NM_001029865.4(DBX1):c.350C>T (p.Ser117Phe)	DBX1 (S117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080221	NM_001029865.4(DBX1):c.239C>T (p.Ser80Leu)	DBX1 (S80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	CCDC34, CCKBR +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	CDHR5, CDKN1C +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	DNAJC24, DNHD1 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 28