ClinVar for Gene (Select 284565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3403106	NM_001385408.1(NBPF15):c.1889G>T (p.Ser630Ile)	NBPF15 (S555I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403105	NM_001385408.1(NBPF15):c.1596C>G (p.Cys532Trp)	NBPF15 (C495W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403104	NM_001385408.1(NBPF15):c.245T>C (p.Leu82Pro)	NBPF15 (L82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403103	NM_001385408.1(NBPF15):c.1927G>C (p.Ala643Pro)	NBPF15 (A568P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403102	NM_001385408.1(NBPF15):c.1786A>C (p.Met596Leu)	NBPF15 (M559L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403100	NM_001385408.1(NBPF15):c.221A>G (p.Glu74Gly)	NBPF15 (E74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403099	NM_001385408.1(NBPF15):c.220G>A (p.Glu74Lys)	NBPF15 (E74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403098	NM_001385408.1(NBPF15):c.644A>T (p.His215Leu)	NBPF15 (H215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403097	NM_001385408.1(NBPF15):c.1891G>A (p.Val631Met)	NBPF15 (V556M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403096	NM_001385408.1(NBPF15):c.1906G>C (p.Glu636Gln)	NBPF15 (E636Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403095	NM_001385408.1(NBPF15):c.1778G>T (p.Gly593Val)	NBPF15 (G556V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403094	NM_001385408.1(NBPF15):c.1323T>A (p.Asp441Glu)	NBPF15 (D366E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403093	NM_001385408.1(NBPF15):c.1834T>C (p.Tyr612His)	NBPF15 (Y575H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403092	NM_001385408.1(NBPF15):c.217A>T (p.Asn73Tyr)	NBPF15 (N73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403091	NM_001385408.1(NBPF15):c.670C>A (p.His224Asn)	NBPF15 (H224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403090	NM_001385408.1(NBPF15):c.1369G>A (p.Gly457Ser)	NBPF15 (G382S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391871	GRCh37/hg19 1q21.1-21.2(chr1:144342778-148832359)x1	ACP6, ANKRD34A +34 more	Copy number loss	not provided	GPathogenic
Select item 3388848	NM_001385408.1(NBPF15):c.1125T>C (p.Cys375=)	NBPF15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3298648	NM_001385408.1(NBPF15):c.664C>A (p.Gln222Lys)	NBPF15 (Q222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298647	NM_001385408.1(NBPF15):c.1825G>C (p.Asp609His)	NBPF15 (D609H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298646	NM_001385408.1(NBPF15):c.1415T>G (p.Leu472Arg)	NBPF15 (L472R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298645	NM_001385408.1(NBPF15):c.1961C>T (p.Thr654Met)	NBPF15 (T617M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298644	NM_001385408.1(NBPF15):c.1978C>G (p.Leu660Val)	NBPF15 (L585V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298643	NM_001385408.1(NBPF15):c.1946G>A (p.Arg649Lys)	NBPF15 (R677K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179773	NM_001385408.1(NBPF15):c.2005C>A (p.Pro669Thr)	NBPF15 (P632T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179759	NM_001385408.1(NBPF15):c.1942A>T (p.Asn648Tyr)	NBPF15 (N648Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179752	NM_001385408.1(NBPF15):c.1928C>T (p.Ala643Val)	NBPF15 (A643V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179738	NM_001385408.1(NBPF15):c.1891G>C (p.Val631Leu)	NBPF15 (V594L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179736	NM_001385408.1(NBPF15):c.1888A>C (p.Ser630Arg)	NBPF15 (S555R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179735	NM_001385408.1(NBPF15):c.1883A>G (p.Tyr628Cys)	NBPF15 (Y628C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179730	NM_001385408.1(NBPF15):c.1838C>T (p.Ser613Leu)	NBPF15 (S538L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179722	NM_001385408.1(NBPF15):c.1823T>A (p.Leu608Gln)	NBPF15 (L608Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179719	NM_001385408.1(NBPF15):c.1822C>A (p.Leu608Met)	NBPF15 (L533M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179715	NM_001385408.1(NBPF15):c.1790A>T (p.Glu597Val)	NBPF15 (E522V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179712	NM_001385408.1(NBPF15):c.178T>A (p.Tyr60Asn)	NBPF15 (Y60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179709	NM_001385408.1(NBPF15):c.1789G>A (p.Glu597Lys)	NBPF15 (E560K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179686	NM_001385408.1(NBPF15):c.1486C>T (p.Pro496Ser)	NBPF15 (P421S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179677	NM_001385408.1(NBPF15):c.1422G>C (p.Leu474Phe)	NBPF15 (L474F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179674	NM_001385408.1(NBPF15):c.1383C>A (p.Ser461Arg)	NBPF15 (S489R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179670	NM_001385408.1(NBPF15):c.1337C>T (p.Thr446Ile)	NBPF15 (T446I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179665	NM_001385408.1(NBPF15):c.1315T>C (p.Ser439Pro)	NBPF15 (S402P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179661	NM_001385408.1(NBPF15):c.1315T>A (p.Ser439Thr)	NBPF15 (S439T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179658	NM_001385408.1(NBPF15):c.1306T>A (p.Leu436Met)	NBPF15 (L436M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179650	NM_001385408.1(NBPF15):c.1288G>C (p.Glu430Gln)	NBPF15 (E393Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179649	NM_001385408.1(NBPF15):c.1287T>G (p.Asp429Glu)	NBPF15 (D354E +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179645	NM_001385408.1(NBPF15):c.1279C>G (p.Leu427Val)	NBPF15 (L427V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179642	NM_001385408.1(NBPF15):c.1274G>C (p.Arg425Thr)	NBPF15 (R388T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179637	NM_001385408.1(NBPF15):c.1273A>T (p.Arg425Trp)	NBPF15 (R388W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179632	NM_001385408.1(NBPF15):c.1201A>G (p.Ile401Val)	NBPF15 (I401V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179628	NM_001385408.1(NBPF15):c.1186C>T (p.Arg396Cys)	NBPF15 (R359C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179626	NM_001385408.1(NBPF15):c.1145G>C (p.Cys382Ser)	NBPF15 (C345S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179620	NM_001385408.1(NBPF15):c.1094T>A (p.Leu365Gln)	NBPF15 (L328Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2639142	NM_001385408.1(NBPF15):c.1763G>A (p.Cys588Tyr)	NBPF15 (C513Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639141	NM_001385408.1(NBPF15):c.1279C>T (p.Leu427=)	NBPF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622758	NM_001385408.1(NBPF15):c.1592C>A (p.Ser531Tyr)	NBPF15 (S531Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592688	NM_001385408.1(NBPF15):c.1432G>A (p.Val478Met)	NBPF15 (V403M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2559373	NM_001385408.1(NBPF15):c.1297C>T (p.Pro433Ser)	NBPF15 (P433S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535125	NM_001385408.1(NBPF15):c.235G>C (p.Glu79Gln)	NBPF15 (E79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519456	NM_001385408.1(NBPF15):c.1981G>A (p.Val661Met)	NBPF15 (V661M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2518327	NM_001385408.1(NBPF15):c.1780G>T (p.Val594Leu)	NBPF15 (V519L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479319	NM_001385408.1(NBPF15):c.658T>G (p.Ser220Ala)	NBPF15 (S220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473010	NM_001385408.1(NBPF15):c.1936G>A (p.Val646Met)	NBPF15 (V571M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469227	NM_001385408.1(NBPF15):c.1070A>G (p.Glu357Gly)	NBPF15 (E385G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461617	NM_001385408.1(NBPF15):c.203A>G (p.Lys68Arg)	NBPF15 (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457388	NM_001385408.1(NBPF15):c.1829G>T (p.Arg610Ile)	NBPF15 (R638I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411448	NM_001385408.1(NBPF15):c.733T>C (p.Ser245Pro)	NBPF15 (S245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407421	NM_001385408.1(NBPF15):c.1568C>G (p.Ser523Cys)	NBPF15 (S486C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388116	NM_001385408.1(NBPF15):c.1346A>C (p.Asp449Ala)	NBPF15 (D412A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365355	NM_001385408.1(NBPF15):c.1328G>T (p.Cys443Phe)	NBPF15 (C368F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364448	NM_001385408.1(NBPF15):c.362G>A (p.Arg121His)	NBPF15 (R121H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363054	NM_001385408.1(NBPF15):c.641G>A (p.Ser214Asn)	NBPF15 (S214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359651	NM_001385408.1(NBPF15):c.1967C>G (p.Thr656Arg)	NBPF15 (T684R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350542	NM_001385408.1(NBPF15):c.674A>G (p.Lys225Arg)	NBPF15 (K225R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348450	NM_001385408.1(NBPF15):c.1002T>A (p.Asp334Glu)	NBPF15 (D362E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348379	NM_001385408.1(NBPF15):c.1927G>A (p.Ala643Thr)	NBPF15 (A568T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343195	NM_001385408.1(NBPF15):c.1604A>G (p.Tyr535Cys)	NBPF15 (Y460C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2342739	NM_001385408.1(NBPF15):c.642C>G (p.Ser214Arg)	NBPF15 (S214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342738	NM_001385408.1(NBPF15):c.1617T>G (p.Phe539Leu)	NBPF15 (F567L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318574	NM_001385408.1(NBPF15):c.731C>T (p.Ser244Phe)	NBPF15 (S244F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296887	NM_001385408.1(NBPF15):c.1302A>C (p.Glu434Asp)	NBPF15 (E397D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291795	NM_001385408.1(NBPF15):c.1507C>G (p.Leu503Val)	NBPF15 (L503V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291000	NM_001385408.1(NBPF15):c.1121G>T (p.Gly374Val)	NBPF15 (G402V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280695	NM_001385408.1(NBPF15):c.667C>T (p.Pro223Ser)	NBPF15 (P223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264238	NM_001385408.1(NBPF15):c.1991T>A (p.Met664Lys)	NBPF15 (M627K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258925	NM_001385408.1(NBPF15):c.1917T>A (p.His639Gln)	NBPF15 (H564Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249934	NM_001385408.1(NBPF15):c.1026G>C (p.Glu342Asp)	NBPF15 (E305D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215123	NM_001385408.1(NBPF15):c.1241A>G (p.Glu414Gly)	NBPF15 (E414G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206827	NM_001385408.1(NBPF15):c.1514T>C (p.Val505Ala)	NBPF15 (V468A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1706516	GRCh37/hg19 1q21.2(chr1:148514178-149758028)x3	FCGR1A, H2BC18 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 997084	GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266)	PPIAL4D, PPIAL4E +15 more	Copy number gain	Delayed speech and language development	GPathogenic
Select item 984435	GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3	ACP6, BCL9 +13 more	Copy number gain	See cases	GUncertain significance
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814123	GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3	ACP6, ANKRD34A +32 more	Copy number gain	not provided	GPathogenic

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