"GeneDx"[submitter] AND "NBAS"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 165

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 1294024	NC_000002.12:g.15166737G>C	NBAS	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1306408	NM_015909.4(NBAS):c.7034C>A (p.Ser2345Tyr)	NBAS (S2345Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574489	NM_015909.4(NBAS):c.6859G>T (p.Asp2287Tyr)	NBAS (D2287Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1225935	NM_015909.4(NBAS):c.6841-117A>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277872	NM_015909.4(NBAS):c.6840+90G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249878	NM_015909.4(NBAS):c.6840+41del	NBAS	Deletion (intron variant)	not provided	GBenign
Select item 1271235	NM_015909.4(NBAS):c.6711+32A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247967	NM_015909.4(NBAS):c.6572+177C>T	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921581	NM_015909.4(NBAS):c.6495A>C (p.Glu2165Asp)	NBAS (E2165D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288626	NM_015909.4(NBAS):c.6433-193T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275021	NM_015909.4(NBAS):c.6432+66G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421958	NM_015909.4(NBAS):c.6316del (p.Arg2106fs)	NBAS (R2106fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1800864	NM_015909.4(NBAS):c.6237-3C>G	NBAS	Single nucleotide variant (intron variant)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1239103	NM_015909.4(NBAS):c.6237-247G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167408	NM_015909.4(NBAS):c.6220G>A (p.Ala2074Thr)	NBAS (A2074T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1304085	NM_015909.4(NBAS):c.6181C>T (p.Pro2061Ser)	NBAS (P2061S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432098	NM_015909.4(NBAS):c.6147-2A>G	NBAS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1268562	NM_015909.4(NBAS):c.6147-96A>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220610	NM_015909.4(NBAS):c.6146+141A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1081845	NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)	NBAS (R1995Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2163359	NM_015909.4(NBAS):c.5983C>T (p.Arg1995Ter)	NBAS (R1995*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1168194	NM_015909.4(NBAS):c.5944-16T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294010	NM_015909.4(NBAS):c.5943+211A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431715	NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser)	NBAS (L1955S)	Single nucleotide variant (missense variant +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more	GUncertain significance
Select item 37042	NM_015909.4(NBAS):c.5741G>A (p.Arg1914His)	NBAS (R1914H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1165767	NM_015909.4(NBAS):c.5727G>C (p.Leu1909=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260720	NM_015909.4(NBAS):c.5724+83G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502789	NM_015909.4(NBAS):c.5723A>G (p.Lys1908Arg)	NBAS (K1908R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1252098	NM_015909.4(NBAS):c.5389+68A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804179	NM_015909.4(NBAS):c.5195T>C (p.Leu1732Ser)	NBAS (L1732S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 388349	NM_015909.4(NBAS):c.5139-5T>G	NBAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1227300	NM_015909.4(NBAS):c.5139-57_5139-56del	NBAS	Deletion (intron variant)	not provided	GBenign
Select item 1260096	NM_015909.4(NBAS):c.5139-125T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278028	NM_015909.4(NBAS):c.5139-188G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234009	NM_015909.4(NBAS):c.5138+243A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253708	NM_015909.4(NBAS):c.5138+24G>A	NBAS	Single nucleotide variant (intron variant)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more	GBenign
Select item 1242227	NM_015909.4(NBAS):c.5028-285C>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228081	NM_015909.4(NBAS):c.5028-317A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809860	NM_015909.4(NBAS):c.4837G>A (p.Val1613Met)	NBAS (V1613M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1279028	NM_015909.4(NBAS):c.4797+29T>A	NBAS	Single nucleotide variant (intron variant)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more	GBenign
Select item 1723648	NM_015909.4(NBAS):c.4753C>T (p.Arg1585Ter)	NBAS (R1585*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 451891	NM_015909.4(NBAS):c.4680C>A (p.Cys1560Ter)	NBAS (C1560*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1306409	NM_015909.4(NBAS):c.4564G>A (p.Val1522Ile)	NBAS (V1522I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282242	NM_015909.4(NBAS):c.4462-31A>G	NBAS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1165416	NM_015909.4(NBAS):c.4359T>G (p.Cys1453Trp)	NBAS (C1453W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1276388	NM_015909.4(NBAS):c.4348-100T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286182	NM_015909.4(NBAS):c.4348-212A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246084	NM_015909.4(NBAS):c.4180-113G>T	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238315	NM_015909.4(NBAS):c.4180-138A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270835	NM_015909.4(NBAS):c.4179+88TG[12]	NBAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1248846	NM_015909.4(NBAS):c.4179+88TG[13]	NBAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1230196	NM_015909.4(NBAS):c.4179+88TG[15]	NBAS	Microsatellite (intron variant)	not provided	GBenign
Select item 1179753	NM_015909.4(NBAS):c.3932-47T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253610	NM_015909.4(NBAS):c.3932-318G>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232613	NM_015909.4(NBAS):c.3931+271G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310510	NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln)	NBAS (R1280Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1274218	NM_015909.4(NBAS):c.3818-129C>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287090	NM_015909.4(NBAS):c.3818-168C>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283320	NM_015909.4(NBAS):c.3818-182T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288282	NM_015909.4(NBAS):c.3704-103T>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244133	NM_015909.4(NBAS):c.3703+271A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279232	NM_015909.4(NBAS):c.3703+260T>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809864	NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)	NBAS (T1204A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1277519	NM_015909.4(NBAS):c.3591-138A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245576	NM_015909.4(NBAS):c.3591-214T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165949	NM_015909.4(NBAS):c.3392G>A (p.Arg1131His)	NBAS (R1131H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1228599	NM_015909.4(NBAS):c.3361-37C>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271023	NM_015909.4(NBAS):c.3361-198A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233366	NM_015909.4(NBAS):c.3360+308A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265147	NM_015909.4(NBAS):c.3360+73T>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282767	NM_015909.4(NBAS):c.3360+31del	NBAS	Deletion (intron variant)	not provided	GBenign
Select item 1234603	NM_015909.4(NBAS):c.3258-108A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246600	NM_015909.4(NBAS):c.3135-169C>T	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267387	NM_015909.4(NBAS):c.3135-250T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241384	NM_015909.4(NBAS):c.3134+223G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274072	NM_015909.4(NBAS):c.3134+17dup	NBAS	Duplication (intron variant)	not provided	GBenign
Select item 1231733	NM_015909.4(NBAS):c.3134+27_3134+28insG	NBAS	Insertion (intron variant)	not provided	GBenign
Select item 1277017	NM_015909.4(NBAS):c.3072-270dup	NBAS	Duplication (intron variant)	not provided	GBenign
Select item 1226949	NM_015909.4(NBAS):c.3072-273A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237976	NM_015909.4(NBAS):c.3071+133T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164816	NM_015909.4(NBAS):c.3026G>C (p.Cys1009Ser)	NBAS (C1009S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1170080	NM_015909.4(NBAS):c.3011G>A (p.Arg1004Gln)	NBAS (R1004Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 501319	NM_015909.4(NBAS):c.2950del (p.Ile984fs)	NBAS (I984fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +4 more	GPathogenic/Likely pathogenic
Select item 451096	NM_015909.4(NBAS):c.2882T>G (p.Leu961Ter)	NBAS (L961*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1164817	NM_015909.4(NBAS):c.2845G>C (p.Val949Leu)	NBAS (V949L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1076261	NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter)	NBAS (E943*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure syndrome 2 +1 more	GPathogenic
Select item 1164818	NM_015909.4(NBAS):c.2775T>C (p.Asp925=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1282573	NM_015909.4(NBAS):c.2763+116T>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1928162	NM_015909.4(NBAS):c.2570C>T (p.Ala857Val)	NBAS (A857V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 427078	NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)	NBAS (V842F)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2574217	NM_015909.4(NBAS):c.2482G>C (p.Glu828Gln)	NBAS (E828Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284177	NM_015909.4(NBAS):c.2424-126A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252795	NM_015909.4(NBAS):c.2424-207A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229887	NM_015909.4(NBAS):c.2423+599T>C	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502016	NM_015909.4(NBAS):c.2423+403G>C	NBAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1289218	NM_015909.4(NBAS):c.2423+186A>G	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240496	NM_015909.4(NBAS):c.2423+11G>A	NBAS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1234900	NM_015909.4(NBAS):c.2339+37_2339+38insA	NBAS	Insertion (intron variant)	not provided	GBenign
Select item 1169870	NM_015909.4(NBAS):c.2223G>A (p.Leu741=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +2 more	GBenign

<< First< Prev

Page of 2