DBP[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 774960	NM_001352.5(DBP):c.912G>A (p.Val304=)	DBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754053	NM_001352.5(DBP):c.750G>A (p.Pro250=)	DBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327670	NM_001352.5(DBP):c.683A>G (p.His228Arg)	DBP (H228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494090	NM_001352.5(DBP):c.677G>A (p.Arg226Gln)	DBP (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377734	NM_001352.5(DBP):c.562C>T (p.Arg188Trp)	DBP (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080208	NM_001352.5(DBP):c.557C>T (p.Thr186Ile)	DBP (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080207	NM_001352.5(DBP):c.511G>T (p.Ala171Ser)	DBP, LOC130064871 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346267	NM_001352.5(DBP):c.487C>G (p.Arg163Gly)	DBP, LOC130064871 (R163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755604	NM_001352.5(DBP):c.468G>A (p.Ser156=)	DBP, LOC130064871	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594802	NM_001352.5(DBP):c.446C>T (p.Ala149Val)	DBP, LOC130064871 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080206	NM_001352.5(DBP):c.425C>T (p.Pro142Leu)	DBP, LOC130064871 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270928	NM_001352.5(DBP):c.329C>T (p.Pro110Leu)	DBP (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080205	NM_001352.5(DBP):c.283C>G (p.Pro95Ala)	DBP (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529379	NM_001352.5(DBP):c.236G>T (p.Gly79Val)	DBP, LOC130064872 (G79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265406	NM_001352.5(DBP):c.176C>T (p.Pro59Leu)	DBP (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378236	NM_001352.5(DBP):c.159G>T (p.Glu53Asp)	DBP (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214825	NM_001352.5(DBP):c.140G>A (p.Cys47Tyr)	DBP (C47Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712816	NM_001352.5(DBP):c.70G>A (p.Gly24Ser)	DBP (G24S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3080209	NM_001352.5(DBP):c.68C>G (p.Pro23Arg)	DBP (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299295	NM_001352.5(DBP):c.43C>G (p.Leu15Val)	DBP (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33