ClinVar for Gene (Select 23218) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 611

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380968	NM_015175.3(NBEAL2):c.2440C>T (p.Gln814Ter)	NBEAL2 (Q780* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3380967	NM_015175.3(NBEAL2):c.532C>T (p.Gln178Ter)	NBEAL2 (Q171* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3380966	NM_015175.3(NBEAL2):c.427G>T (p.Glu143Ter)	NBEAL2 (E136* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3379461	NM_015175.3(NBEAL2):c.7111G>A (p.Glu2371Lys)	NBEAL2 (E2337K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379460	NM_015175.3(NBEAL2):c.7091G>A (p.Ser2364Asn)	NBEAL2 (S2330N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379458	NM_015175.3(NBEAL2):c.5998C>T (p.Leu2000Phe)	NBEAL2 (L1966F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379457	NM_015175.3(NBEAL2):c.5351G>A (p.Arg1784His)	NBEAL2 (R1750H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379456	NM_015175.3(NBEAL2):c.2698G>C (p.Glu900Gln)	NBEAL2 (E866Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379455	NM_015175.3(NBEAL2):c.2612G>A (p.Arg871His)	NBEAL2 (R837H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379454	NM_015175.3(NBEAL2):c.919A>C (p.Met307Leu)	NBEAL2 (M300L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375027	NM_015175.3(NBEAL2):c.2447C>T (p.Thr816Met)	NBEAL2 (T782M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366808	NM_015175.3(NBEAL2):c.6198+3G>A	NBEAL2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3366774	NM_015175.3(NBEAL2):c.6515G>A (p.Arg2172His)	NBEAL2 (R2138H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366648	NM_015175.3(NBEAL2):c.4541G>C (p.Gly1514Ala)	NBEAL2 (G1480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362502	NM_015175.3(NBEAL2):c.6914A>G (p.Tyr2305Cys)	NBEAL2 (Y2271C +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 3356816	NM_015175.3(NBEAL2):c.2665G>A (p.Val889Ile)	NBEAL2 (V855I +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GUncertain significance
Select item 3353013	NM_015175.3(NBEAL2):c.4844G>A (p.Arg1615His)	NBEAL2 (R1581H +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GUncertain significance
Select item 3350843	NM_015175.3(NBEAL2):c.5321C>T (p.Ala1774Val)	NBEAL2 (A1740V +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GUncertain significance
Select item 3350802	NM_015175.3(NBEAL2):c.4158C>T (p.Pro1386=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 3298617	NM_015175.3(NBEAL2):c.8029C>A (p.Leu2677Met)	NBEAL2 (L2643M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298616	NM_015175.3(NBEAL2):c.626T>C (p.Val209Ala)	NBEAL2 (V202A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298615	NM_015175.3(NBEAL2):c.4107C>G (p.Asn1369Lys)	NBEAL2 (N1335K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298614	NM_015175.3(NBEAL2):c.6790C>T (p.Arg2264Cys)	NBEAL2 (R2230C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298613	NM_015175.3(NBEAL2):c.5020C>G (p.Arg1674Gly)	NBEAL2 (R1640G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298612	NM_015175.3(NBEAL2):c.3575T>A (p.Leu1192Gln)	NBEAL2 (L1192Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298611	NM_015175.3(NBEAL2):c.5194A>G (p.Lys1732Glu)	NBEAL2 (K1732E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298609	NM_015175.3(NBEAL2):c.5414C>T (p.Ala1805Val)	NBEAL2 (A1805V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298608	NM_015175.3(NBEAL2):c.7217A>G (p.Asp2406Gly)	NBEAL2 (D2372G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298607	NM_015175.3(NBEAL2):c.7883C>T (p.Thr2628Ile)	NBEAL2 (T2628I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298606	NM_015175.3(NBEAL2):c.6122G>A (p.Arg2041His)	NBEAL2 (R2007H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298605	NM_015175.3(NBEAL2):c.6517G>A (p.Val2173Met)	NBEAL2 (V2139M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298604	NM_015175.3(NBEAL2):c.466C>T (p.Arg156Cys)	NBEAL2 (R149C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298603	NM_015175.3(NBEAL2):c.6008C>T (p.Pro2003Leu)	NBEAL2 (P1969L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298602	NM_015175.3(NBEAL2):c.2831G>A (p.Arg944Gln)	NBEAL2 (R910Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298601	NM_015175.3(NBEAL2):c.482T>C (p.Ile161Thr)	NBEAL2 (I161T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298600	NM_015175.3(NBEAL2):c.6953G>A (p.Arg2318Gln)	NBEAL2 (R2284Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298598	NM_015175.3(NBEAL2):c.6613C>T (p.Arg2205Cys)	NBEAL2 (R2171C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251739	NM_015175.3(NBEAL2):c.1645G>A (p.Gly549Arg)	NBEAL2 (G515R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234510	NM_015175.3(NBEAL2):c.1644C>T (p.Gly548=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234205	NM_015175.3(NBEAL2):c.5907A>G (p.Pro1969=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233667	NM_015175.3(NBEAL2):c.579C>T (p.His193=)	NBEAL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233493	NM_015175.3(NBEAL2):c.2249C>G (p.Thr750Ser)	NBEAL2 (T716S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179447	NM_015175.3(NBEAL2):c.881C>T (p.Ser294Leu)	NBEAL2 (S294L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179423	NM_015175.3(NBEAL2):c.805C>T (p.Arg269Cys)	NBEAL2 (R269C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179415	NM_015175.3(NBEAL2):c.7963G>A (p.Val2655Met)	NBEAL2 (V2655M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179405	NM_015175.3(NBEAL2):c.7921C>T (p.Arg2641Trp)	NBEAL2 (R2607W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179364	NM_015175.3(NBEAL2):c.7318A>G (p.Thr2440Ala)	NBEAL2 (T2406A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179336	NM_015175.3(NBEAL2):c.7096T>C (p.Phe2366Leu)	NBEAL2 (F2332L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179308	NM_015175.3(NBEAL2):c.671G>C (p.Gly224Ala)	NBEAL2 (G217A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179306	NM_015175.3(NBEAL2):c.6682A>G (p.Asn2228Asp)	NBEAL2 (N2194D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179279	NM_015175.3(NBEAL2):c.6094C>T (p.Arg2032Trp)	NBEAL2 (R2032W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179274	NM_015175.3(NBEAL2):c.6064C>A (p.Pro2022Thr)	NBEAL2 (P2022T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179270	NM_015175.3(NBEAL2):c.602G>A (p.Arg201His)	NBEAL2 (R194H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179256	NM_015175.3(NBEAL2):c.5689G>A (p.Gly1897Ser)	NBEAL2 (G1863S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179238	NM_015175.3(NBEAL2):c.5441G>A (p.Cys1814Tyr)	NBEAL2 (C1814Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179222	NM_015175.3(NBEAL2):c.5330G>A (p.Arg1777Gln)	NBEAL2 (R1777Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179206	NM_015175.3(NBEAL2):c.5261G>A (p.Arg1754Gln)	NBEAL2 (R1754Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179190	NM_015175.3(NBEAL2):c.5086A>G (p.Thr1696Ala)	NBEAL2 (T1696A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179189	NM_015175.3(NBEAL2):c.506A>G (p.Tyr169Cys)	NBEAL2 (Y162C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179185	NM_015175.3(NBEAL2):c.4975G>A (p.Glu1659Lys)	NBEAL2 (E1659K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179173	NM_015175.3(NBEAL2):c.4676G>T (p.Arg1559Leu)	NBEAL2 (R1525L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179165	NM_015175.3(NBEAL2):c.4522A>G (p.Ile1508Val)	NBEAL2 (I1474V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179152	NM_015175.3(NBEAL2):c.4217G>T (p.Ser1406Ile)	NBEAL2 (S1406I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179149	NM_015175.3(NBEAL2):c.4210C>T (p.Arg1404Cys)	NBEAL2 (R1370C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179145	NM_015175.3(NBEAL2):c.4186C>T (p.Arg1396Trp)	NBEAL2 (R1362W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179142	NM_015175.3(NBEAL2):c.4156C>T (p.Pro1386Ser)	NBEAL2 (P1386S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179137	NM_015175.3(NBEAL2):c.4114G>C (p.Gly1372Arg)	NBEAL2 (G1372R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179131	NM_015175.3(NBEAL2):c.4045C>G (p.Leu1349Val)	NBEAL2 (L1315V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179127	NM_015175.3(NBEAL2):c.3938C>G (p.Pro1313Arg)	NBEAL2 (P1279R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179117	NM_015175.3(NBEAL2):c.3839G>A (p.Arg1280Gln)	NBEAL2 (R1280Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179113	NM_015175.3(NBEAL2):c.3803T>C (p.Ile1268Thr)	NBEAL2 (I1234T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179101	NM_015175.3(NBEAL2):c.3686A>G (p.Lys1229Arg)	NBEAL2 (K1229R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179096	NM_015175.3(NBEAL2):c.3646G>A (p.Glu1216Lys)	NBEAL2 (E1182K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179090	NM_015175.3(NBEAL2):c.3551G>A (p.Arg1184His)	NBEAL2 (R1150H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179031	NM_015175.3(NBEAL2):c.2762G>T (p.Gly921Val)	NBEAL2 (G921V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179025	NM_015175.3(NBEAL2):c.2431G>A (p.Glu811Lys)	NBEAL2 (E777K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179015	NM_015175.3(NBEAL2):c.2390C>T (p.Thr797Ile)	NBEAL2 (T797I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179006	NM_015175.3(NBEAL2):c.2233G>A (p.Ala745Thr)	NBEAL2 (A745T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3178988	NM_015175.3(NBEAL2):c.2078A>G (p.Gln693Arg)	NBEAL2 (Q693R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178979	NM_015175.3(NBEAL2):c.1957G>A (p.Val653Met)	NBEAL2 (V619M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178975	NM_015175.3(NBEAL2):c.1819G>T (p.Ala607Ser)	NBEAL2 (A573S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178937	NM_015175.3(NBEAL2):c.1532G>A (p.Arg511His)	NBEAL2 (R477H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178929	NM_015175.3(NBEAL2):c.1487G>A (p.Gly496Asp)	NBEAL2 (G462D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178927	NM_015175.3(NBEAL2):c.1409T>A (p.Phe470Tyr)	NBEAL2 (F436Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178917	NM_015175.3(NBEAL2):c.1357C>G (p.Leu453Val)	NBEAL2 (L419V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178911	NM_015175.3(NBEAL2):c.1333C>T (p.Pro445Ser)	NBEAL2 (P445S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178907	NM_015175.3(NBEAL2):c.1307G>A (p.Gly436Asp)	NBEAL2 (G402D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178902	NM_015175.3(NBEAL2):c.1255G>T (p.Gly419Cys)	NBEAL2 (G419C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178898	NM_015175.3(NBEAL2):c.1253A>G (p.His418Arg)	NBEAL2 (H418R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069094	NM_015175.3(NBEAL2):c.4949CAGCTGCAG[5] (p.Ala1658_Glu1659insAlaAlaAlaAlaAlaAla)	NBEAL2	Microsatellite (inframe_insertion)	not specified	GUncertain significance
Select item 3065337	NM_015175.3(NBEAL2):c.6514C>T (p.Arg2172Cys)	NBEAL2 (R2138C +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GLikely pathogenic
Select item 3065209	NM_015175.3(NBEAL2):c.5972T>C (p.Phe1991Ser)	NBEAL2 (F1957S +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 3063856	NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)	NBEAL2	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3063656	NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)	NBEAL2 (R1433W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057432	NM_015175.3(NBEAL2):c.402G>A (p.Val134=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 3053537	NM_015175.3(NBEAL2):c.3119-7C>T	NBEAL2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3051687	NM_015175.3(NBEAL2):c.4117G>C (p.Gly1373Arg)	NBEAL2 (G1339R +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GLikely benign
Select item 3051371	NM_015175.3(NBEAL2):c.2738C>T (p.Pro913Leu)	NBEAL2 (P879L +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GLikely benign
Select item 3050636	NM_015175.3(NBEAL2):c.588C>T (p.Pro196=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 3049557	NM_015175.3(NBEAL2):c.6879C>T (p.Ala2293=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign

<< First< Prev

Page of 7