DBX2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 2342614	NM_001004329.3(DBX2):c.835A>G (p.Ile279Val)	DBX2 (I279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710738	NM_001004329.3(DBX2):c.801G>A (p.Arg267=)	DBX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459097	NM_001004329.3(DBX2):c.800G>A (p.Arg267Gln)	DBX2 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080232	NM_001004329.3(DBX2):c.634A>G (p.Ser212Gly)	DBX2 (S212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468546	NM_001004329.3(DBX2):c.587A>G (p.Asp196Gly)	DBX2 (D196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204606	NM_001004329.3(DBX2):c.559A>G (p.Ile187Val)	DBX2 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609435	NM_001004329.3(DBX2):c.475C>T (p.Pro159Ser)	DBX2 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080231	NM_001004329.3(DBX2):c.473G>A (p.Arg158His)	DBX2 (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080230	NM_001004329.3(DBX2):c.472C>T (p.Arg158Cys)	DBX2 (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080229	NM_001004329.3(DBX2):c.457G>A (p.Gly153Ser)	DBX2 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219619	NM_001004329.3(DBX2):c.448G>A (p.Ala150Thr)	DBX2 (A150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080228	NM_001004329.3(DBX2):c.441C>G (p.Phe147Leu)	DBX2 (F147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455950	NM_001004329.3(DBX2):c.431C>A (p.Thr144Asn)	DBX2 (T144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080227	NM_001004329.3(DBX2):c.392C>T (p.Pro131Leu)	DBX2 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080226	NM_001004329.3(DBX2):c.389A>G (p.Gln130Arg)	DBX2 (Q130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225834	NM_001004329.3(DBX2):c.339C>G (p.Asp113Glu)	DBX2 (D113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557174	NM_001004329.3(DBX2):c.292C>G (p.Pro98Ala)	DBX2 (P98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561084	NM_001004329.3(DBX2):c.184C>G (p.Pro62Ala)	DBX2 (P62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596192	NM_001004329.3(DBX2):c.182A>G (p.Asp61Gly)	DBX2 (D61G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374245	NM_001004329.3(DBX2):c.179A>C (p.His60Pro)	DBX2 (H60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374244	NM_001004329.3(DBX2):c.172G>C (p.Ala58Pro)	DBX2 (A58P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528157	NM_001004329.3(DBX2):c.101T>C (p.Leu34Pro)	DBX2 (L34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376903	NM_001004329.3(DBX2):c.77C>T (p.Pro26Leu)	DBX2 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590642	NM_001004329.3(DBX2):c.61G>C (p.Ala21Pro)	DBX2 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570550	NM_001004329.3(DBX2):c.47T>G (p.Val16Gly)	DBX2 (V16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530246	NM_001004329.3(DBX2):c.29C>G (p.Ala10Gly)	DBX2 (A10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527707	GRCh37/hg19 12q12(chr12:45181335-45776599)	ANO6, DBX2 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979962	GRCh37/hg19 12q12(chr12:43953566-46197331)x3	DBX2, ANO6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 39