ClinVar for Gene (Select 51163) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3270931	NM_016216.4(DBR1):c.464A>C (p.Asn155Thr)	DBR1 (N155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3254747	NM_016216.4(DBR1):c.233C>T (p.Thr78Met)	DBR1 (T78M)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection (viral)-induced, susceptibility to, 11	GLikely pathogenic
Select item 3254746	NM_016216.4(DBR1):c.589dup (p.Arg197fs)	DBR1 (R197fs)	Duplication (frameshift variant)	Encephalitis, acute, infection (viral)-induced, susceptibility to, 11	GPathogenic
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 3080215	NM_016216.4(DBR1):c.80G>A (p.Gly27Asp)	DBR1, LOC129937648 (G27D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3080213	NM_016216.4(DBR1):c.170A>C (p.Lys57Thr)	DBR1 (K57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080212	NM_016216.4(DBR1):c.164C>T (p.Pro55Leu)	DBR1, LOC129937648 (P55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080211	NM_016216.4(DBR1):c.148C>G (p.Arg50Gly)	DBR1, LOC129937648 (R50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3018493	NM_016216.4(DBR1):c.207T>C (p.Ser69=)	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 2906575	NM_016216.4(DBR1):c.155T>C (p.Met52Thr)	DBR1, LOC129937648 (M52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894727	NM_016216.4(DBR1):c.474C>A (p.Val158=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894490	NM_016216.4(DBR1):c.1353G>A (p.Ser451=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892523	NM_016216.4(DBR1):c.1470G>A (p.Glu490=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888595	NM_016216.4(DBR1):c.381T>C (p.Phe127=)	DBR1	Single nucleotide variant (synonymous 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 2870859	NM_016216.4(DBR1):c.323-20T>C	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869112	NM_016216.4(DBR1):c.303A>G (p.Ala101=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868922	NM_016216.4(DBR1):c.696C>T (p.Ala232=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868209	NM_016216.4(DBR1):c.323-9A>G	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867680	NM_016216.4(DBR1):c.906G>T (p.Leu302=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859346	NM_016216.4(DBR1):c.198-1G>C	DBR1	Single nucleotide variant (splice acceptor 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 2822253	NM_016216.4(DBR1):c.941+13T>A	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 2805097	NM_016216.4(DBR1):c.1549C>T (p.His517Tyr)	DBR1 (H517Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805001	NM_016216.4(DBR1):c.279G>A (p.Glu93=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803214	NM_016216.4(DBR1):c.378C>T (p.Ile126=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793858	NM_016216.4(DBR1):c.197+11G>T	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789005	NM_016216.4(DBR1):c.234G>A (p.Thr78=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785406	NM_016216.4(DBR1):c.942-5T>G	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783206	NM_016216.4(DBR1):c.150C>T (p.Arg50=)	DBR1, LOC129937648	Single nucleotide variant (synonymous 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 2782195	NM_016216.4(DBR1):c.198-14C>G	DBR1	Single nucleotide variant (intron 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 2777799	NM_016216.4(DBR1):c.935A>G (p.His312Arg)	DBR1 (H312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776571	NM_016216.4(DBR1):c.197+14C>G	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758073	NM_016216.4(DBR1):c.456T>C (p.His152=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752939	NM_016216.4(DBR1):c.197+10C>T	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745895	NM_016216.4(DBR1):c.1110T>C (p.Phe370=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709177	NM_016216.4(DBR1):c.819C>T (p.Pro273=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700941	NM_016216.4(DBR1):c.1023T>C (p.Phe341=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693811	NM_016216.4(DBR1):c.1401T>C (p.Asp467=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688256	NM_016216.4(DBR1):c.-107C>A	DBR1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2687949	NM_016216.4(DBR1):c.715-52T>C	DBR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687948	NM_016216.4(DBR1):c.796-41C>A	DBR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687947	NM_016216.4(DBR1):c.*36T>C	DBR1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2654188	NM_016216.4(DBR1):c.-6G>A	DBR1, LOC129937648	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 2601142	NM_016216.4(DBR1):c.467T>C (p.Ile156Thr)	DBR1 (I156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579701	NM_016216.4(DBR1):c.200A>G (p.Tyr67Cys)	DBR1 (Y67C)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection (viral)-induced, susceptibility to, 11	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 2548009	NM_016216.4(DBR1):c.1363T>C (p.Ser455Pro)	DBR1 (S455P)	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 2489792	NM_016216.4(DBR1):c.376A>G (p.Ile126Val)	DBR1 (I126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2463610	NM_016216.4(DBR1):c.779A>G (p.His260Arg)	DBR1 (H260R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 2426283	NC_000003.11:g.(?_137880731)_(137893637_?)dup	DBR1	Duplication	not provided	GUncertain significance
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 2413271	NM_016216.4(DBR1):c.1445C>T (p.Thr482Met)	DBR1 (T482M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395589	NM_016216.4(DBR1):c.227T>C (p.Val76Ala)	DBR1 (V76A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361272	NM_016216.4(DBR1):c.50A>G (p.Tyr17Cys)	DBR1, LOC129937648 (Y17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2313101	NM_016216.4(DBR1):c.697G>A (p.Ala233Thr)	DBR1 (A233T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2243253	NM_016216.4(DBR1):c.553A>T (p.Asn185Tyr)	DBR1 (N185Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2192471	NM_016216.4(DBR1):c.663T>C (p.Tyr221=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186337	NM_016216.4(DBR1):c.426T>C (p.Tyr142=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2180969	NM_016216.4(DBR1):c.875C>T (p.Thr292Met)	DBR1 (T292M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2171087	NM_016216.4(DBR1):c.489+5G>A	DBR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2167829	NM_016216.4(DBR1):c.1446G>A (p.Thr482=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2151141	NM_016216.4(DBR1):c.489+4C>T	DBR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2146494	NM_016216.4(DBR1):c.1083T>C (p.His361=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2142965	NM_016216.4(DBR1):c.876G>C (p.Thr292=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135847	NM_016216.4(DBR1):c.389A>G (p.His130Arg)	DBR1 (H130R)	Single nucleotide variant (missense variant)	not provided	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 2135069	NM_016216.4(DBR1):c.1278A>T (p.Pro426=)	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 2126677	NM_016216.4(DBR1):c.242T>C (p.Ile81Thr)	DBR1 (I81T)	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 2121679	NM_016216.4(DBR1):c.714+13A>G	DBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120766	NM_016216.4(DBR1):c.858C>T (p.Leu286=)	DBR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2119421	NM_016216.4(DBR1):c.151_158del (p.Cys51fs)	DBR1, LOC129937648 (C51fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2118986	NM_016216.4(DBR1):c.83C>G (p.Pro28Arg)	DBR1, LOC129937648 (P28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2115209	NM_016216.4(DBR1):c.1623C>T (p.Asp541=)	DBR1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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