DBR1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57794	GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3	A4GNT, ARMC8 +16 more	Copy number gain	See cases	GUncertain significance
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 2687947	NM_016216.4(DBR1):c.*36T>C	DBR1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2418134	NM_016216.4(DBR1):c.1631C>G (p.Ala544Gly)	DBR1 (A544G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060835	NM_016216.4(DBR1):c.1625_1627dup (p.Asp542_Ala543insAsp)	DBR1	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 2051313	NM_016216.4(DBR1):c.1623_1625del (p.Asp542del)	DBR1 (D542del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2115209	NM_016216.4(DBR1):c.1623C>T (p.Asp541=)	DBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 743233	NM_016216.4(DBR1):c.1599C>T (p.Tyr533=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201668	NM_016216.4(DBR1):c.1581G>T (p.Arg527Ser)	DBR1 (R527S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109666	NM_016216.4(DBR1):c.1552G>A (p.Glu518Lys)	DBR1 (E518K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805097	NM_016216.4(DBR1):c.1549C>T (p.His517Tyr)	DBR1 (H517Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043960	NM_016216.4(DBR1):c.1537C>G (p.Leu513Val)	DBR1 (L513V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1972650	NM_016216.4(DBR1):c.1513T>A (p.Leu505Ile)	DBR1 (L505I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072959	NM_016216.4(DBR1):c.1512C>T (p.Asp504=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3270929	NM_016216.4(DBR1):c.1504G>A (p.Gly502Arg)	DBR1 (G502R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717204	NM_016216.4(DBR1):c.1494G>A (p.Glu498=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2327165	NM_016216.4(DBR1):c.1486A>G (p.Thr496Ala)	DBR1 (T496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2196561	NM_016216.4(DBR1):c.1481G>C (p.Gly494Ala)	DBR1 (G494A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2892523	NM_016216.4(DBR1):c.1470G>A (p.Glu490=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167829	NM_016216.4(DBR1):c.1446G>A (p.Thr482=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413271	NM_016216.4(DBR1):c.1445C>T (p.Thr482Met)	DBR1 (T482M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294504	NM_016216.4(DBR1):c.1429G>A (p.Val477Ile)	DBR1 (V477I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2135482	NM_016216.4(DBR1):c.1424T>C (p.Met475Thr)	DBR1 (M475T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2063407	NM_016216.4(DBR1):c.1417G>A (p.Gly473Ser)	DBR1 (G473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693811	NM_016216.4(DBR1):c.1401T>C (p.Asp467=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068725	NM_016216.4(DBR1):c.1373C>A (p.Ala458Asp)	DBR1 (A458D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1971974	NM_016216.4(DBR1):c.1367A>G (p.Asp456Gly)	DBR1 (D456G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548009	NM_016216.4(DBR1):c.1363T>C (p.Ser455Pro)	DBR1 (S455P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894490	NM_016216.4(DBR1):c.1353G>A (p.Ser451=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053955	NM_016216.4(DBR1):c.1352C>T (p.Ser451Leu)	DBR1 (S451L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2180167	NM_016216.4(DBR1):c.1346C>T (p.Thr449Ile)	DBR1 (T449I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122844	NM_016216.4(DBR1):c.1337G>T (p.Gly446Val)	DBR1 (G446V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049454	NM_016216.4(DBR1):c.1337G>A (p.Gly446Asp)	DBR1 (G446D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2486265	NM_016216.4(DBR1):c.1333A>C (p.Ser445Arg)	DBR1 (S445R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2005059	NM_016216.4(DBR1):c.1327G>A (p.Ala443Thr)	DBR1 (A443T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913814	NM_016216.4(DBR1):c.1321G>A (p.Val441Ile)	DBR1 (V441I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067470	NM_016216.4(DBR1):c.1302A>C (p.Glu434Asp)	DBR1 (E434D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025381	NM_016216.4(DBR1):c.1282G>A (p.Glu428Lys)	DBR1 (E428K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022836	NM_016216.4(DBR1):c.1282G>C (p.Glu428Gln)	DBR1 (E428Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2000307	NM_016216.4(DBR1):c.1280A>G (p.Asp427Gly)	DBR1 (D427G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135069	NM_016216.4(DBR1):c.1278A>T (p.Pro426=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080210	NM_016216.4(DBR1):c.1267T>C (p.Ser423Pro)	DBR1 (S423P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052065	NM_016216.4(DBR1):c.1240T>C (p.Tyr414His)	DBR1 (Y414H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975077	NM_016216.4(DBR1):c.1231C>G (p.Gln411Glu)	DBR1 (Q411E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152821	NM_016216.4(DBR1):c.1219T>C (p.Ser407Pro)	DBR1 (S407P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850994	NM_016216.4(DBR1):c.1212T>C (p.Ser404=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132047	NM_016216.4(DBR1):c.1114G>A (p.Ala372Thr)	DBR1 (A372T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745895	NM_016216.4(DBR1):c.1110T>C (p.Phe370=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115210	NM_016216.4(DBR1):c.1101A>T (p.Thr367=)	DBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2040593	NM_016216.4(DBR1):c.1091A>G (p.Asn364Ser)	DBR1 (N364S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2146494	NM_016216.4(DBR1):c.1083T>C (p.His361=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062735	NM_016216.4(DBR1):c.1046A>G (p.Asp349Gly)	DBR1 (D349G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978350	NM_016216.4(DBR1):c.1043A>T (p.Tyr348Phe)	DBR1 (Y348F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568571	NM_016216.4(DBR1):c.1040G>A (p.Cys347Tyr)	DBR1 (C347Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1970947	NM_016216.4(DBR1):c.1031C>T (p.Thr344Ile)	DBR1 (T344I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2700941	NM_016216.4(DBR1):c.1023T>C (p.Phe341=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001222	NM_016216.4(DBR1):c.999T>C (p.His333=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632221	NM_016216.4(DBR1):c.979G>T (p.Val327Leu)	DBR1 (V327L)	Single nucleotide variant (missense variant)	DBR1-related disorder	GUncertain significance
Select item 3080217	NM_016216.4(DBR1):c.971T>A (p.Met324Lys)	DBR1 (M324K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080216	NM_016216.4(DBR1):c.955G>A (p.Ala319Thr)	DBR1 (A319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2785406	NM_016216.4(DBR1):c.942-5T>G	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2055859	NM_016216.4(DBR1):c.941+17_941+54del	DBR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2822253	NM_016216.4(DBR1):c.941+13T>A	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783068	NM_016216.4(DBR1):c.941+8del	DBR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2777799	NM_016216.4(DBR1):c.935A>G (p.His312Arg)	DBR1 (H312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867680	NM_016216.4(DBR1):c.906G>T (p.Leu302=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004944	NM_016216.4(DBR1):c.905T>A (p.Leu302Gln)	DBR1 (L302Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182282	NM_016216.4(DBR1):c.902G>A (p.Arg301His)	DBR1 (R301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999203	NM_016216.4(DBR1):c.902G>T (p.Arg301Leu)	DBR1 (R301L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065065	NM_016216.4(DBR1):c.890A>T (p.Asn297Ile)	DBR1 (N297I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142965	NM_016216.4(DBR1):c.876G>C (p.Thr292=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180969	NM_016216.4(DBR1):c.875C>T (p.Thr292Met)	DBR1 (T292M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120766	NM_016216.4(DBR1):c.858C>T (p.Leu286=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2172471	NM_016216.4(DBR1):c.847A>G (p.Ile283Val)	DBR1 (I283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2463430	NM_016216.4(DBR1):c.832T>G (p.Tyr278Asp)	DBR1 (Y278D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2145599	NM_016216.4(DBR1):c.832T>C (p.Tyr278His)	DBR1 (Y278H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709177	NM_016216.4(DBR1):c.819C>T (p.Pro273=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779365	NM_016216.4(DBR1):c.799T>C (p.Leu267=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687948	NM_016216.4(DBR1):c.796-41C>A	DBR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1975153	NM_016216.4(DBR1):c.795+14A>C	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805876	NM_016216.4(DBR1):c.795+10G>C	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887662	NM_016216.4(DBR1):c.795+8G>T	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3080214	NM_016216.4(DBR1):c.794A>G (p.Gln265Arg)	DBR1 (Q265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065386	NM_016216.4(DBR1):c.784G>T (p.Asp262Tyr)	DBR1 (D262Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077990	NM_016216.4(DBR1):c.780T>C (p.His260=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463610	NM_016216.4(DBR1):c.779A>G (p.His260Arg)	DBR1 (H260R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532163	NM_016216.4(DBR1):c.750A>T (p.Lys250Asn)	DBR1 (K250N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270932	NM_016216.4(DBR1):c.746C>T (p.Thr249Ile)	DBR1 (T249I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045592	NM_016216.4(DBR1):c.715-4C>T	DBR1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2