ClinVar for Gene (Select 9578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140878	NM_006035.4(CDC42BPB):c.5084A>G (p.His1695Arg)	CDC42BPB (H1695R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140877	NM_006035.4(CDC42BPB):c.5083C>G (p.His1695Asp)	CDC42BPB (H1695D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140876	NM_006035.4(CDC42BPB):c.4669G>A (p.Val1557Ile)	CDC42BPB (V1531I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140875	NM_006035.4(CDC42BPB):c.4406G>A (p.Cys1469Tyr)	CDC42BPB (C1443Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140873	NM_006035.4(CDC42BPB):c.412G>A (p.Ala138Thr)	CDC42BPB (A138T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140871	NM_006035.4(CDC42BPB):c.3323C>T (p.Thr1108Met)	CDC42BPB (T1108M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140870	NM_006035.4(CDC42BPB):c.3275G>A (p.Arg1092Gln)	CDC42BPB (R1092Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140869	NM_006035.4(CDC42BPB):c.2696A>G (p.Lys899Arg)	CDC42BPB (K899R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140868	NM_006035.4(CDC42BPB):c.2552G>A (p.Ser851Asn)	CDC42BPB (S851N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140867	NM_006035.4(CDC42BPB):c.2110C>T (p.Arg704Cys)	CDC42BPB (R704C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140866	NM_006035.4(CDC42BPB):c.2060A>G (p.Lys687Arg)	CDC42BPB (K687R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140865	NM_006035.4(CDC42BPB):c.1800C>A (p.Asp600Glu)	CDC42BPB (D600E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140864	NM_006035.4(CDC42BPB):c.1580G>A (p.Arg527Gln)	CDC42BPB (R527Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3140862	NM_006035.4(CDC42BPB):c.1561C>T (p.Arg521Cys)	CDC42BPB (R521C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3140861	NM_006035.4(CDC42BPB):c.1493A>G (p.Lys498Arg)	CDC42BPB (K498R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064413	NM_006035.4(CDC42BPB):c.2204T>C (p.Met735Thr)	CDC42BPB (M735T)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3062169	NM_006035.4(CDC42BPB):c.4661G>A (p.Arg1554Lys)	CDC42BPB (R1528K +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3061810	NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)	CDC42BPB (T1465A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3060624	NM_006035.4(CDC42BPB):c.4041C>T (p.Ala1347=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GBenign
Select item 3059038	NM_006035.4(CDC42BPB):c.2799A>G (p.Glu933=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GBenign
Select item 3058424	NM_006035.4(CDC42BPB):c.3998C>T (p.Thr1333Met)	CDC42BPB (T1307M +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GLikely benign
Select item 3057416	NM_006035.4(CDC42BPB):c.2949G>A (p.Ala983=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3053429	NM_006035.4(CDC42BPB):c.2202G>A (p.Leu734=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3051803	NM_006035.4(CDC42BPB):c.2948C>T (p.Ala983Val)	CDC42BPB (A983V)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GLikely benign
Select item 3050976	NM_006035.4(CDC42BPB):c.5103C>T (p.Leu1701=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3050436	NM_006035.4(CDC42BPB):c.3918T>C (p.Tyr1306=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3049885	NM_006035.4(CDC42BPB):c.4591+9T>G	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related condition	GLikely benign
Select item 3049207	NM_006035.4(CDC42BPB):c.3921G>A (p.Pro1307=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3049090	NM_006035.4(CDC42BPB):c.2711A>G (p.Asn904Ser)	CDC42BPB (N904S)	Single nucleotide variant (missense variant)	CDC42BPB-related condition +1 more	GBenign/Likely benign
Select item 3049015	NM_006035.4(CDC42BPB):c.1521C>T (p.Leu507=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3048064	NM_006035.4(CDC42BPB):c.4231C>T (p.Pro1411Ser)	CDC42BPB (P1385S +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GBenign
Select item 3046788	NM_006035.4(CDC42BPB):c.1996-3C>T	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related condition	GLikely benign
Select item 3046295	NM_006035.4(CDC42BPB):c.4620C>T (p.Ser1540=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3045949	NM_006035.4(CDC42BPB):c.1664G>A (p.Arg555Gln)	CDC42BPB (R555Q)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GLikely benign
Select item 3042102	NM_006035.4(CDC42BPB):c.2538C>T (p.Leu846=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3039639	NM_006035.4(CDC42BPB):c.435C>T (p.Asp145=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3035941	NM_006035.4(CDC42BPB):c.5101C>T (p.Leu1701Phe)	CDC42BPB (L1675F +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GUncertain significance
Select item 3035870	NM_006035.4(CDC42BPB):c.3229A>G (p.Ile1077Val)	CDC42BPB (I1051V +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GBenign
Select item 3034114	NM_006035.4(CDC42BPB):c.750G>A (p.Ala250=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3031778	NM_006035.4(CDC42BPB):c.5040G>A (p.Ser1680=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3031694	NM_006035.4(CDC42BPB):c.2471+10C>T	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related condition	GLikely benign
Select item 3031492	NM_006035.4(CDC42BPB):c.1607G>A (p.Arg536His)	CDC42BPB (R536H)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GUncertain significance
Select item 3029860	NM_006035.4(CDC42BPB):c.2328A>G (p.Leu776=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3028980	NM_006035.4(CDC42BPB):c.1950C>T (p.Ser650=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GLikely benign
Select item 3025720	NM_006035.4(CDC42BPB):c.3748+8C>G	CDC42BPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024759	NM_006035.4(CDC42BPB):c.4723G>C (p.Asp1575His)	CDC42BPB (D1549H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2691550	NM_006035.4(CDC42BPB):c.1539C>G (p.Asp513Glu)	CDC42BPB (D513E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691549	NM_006035.4(CDC42BPB):c.3310-5C>T	CDC42BPB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2688751	NM_006035.4(CDC42BPB):c.3658C>T (p.Arg1220Trp)	CDC42BPB (R1194W +1 more)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2688750	NM_006035.4(CDC42BPB):c.675G>A (p.Met225Ile)	CDC42BPB (M225I)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2672127	NM_006035.4(CDC42BPB):c.2716A>C (p.Thr906Pro)	CDC42BPB (T906P)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 2663783	NM_006035.4(CDC42BPB):c.2726+1G>A	CDC42BPB	Single nucleotide variant (splice donor variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 2663669	NM_006035.4(CDC42BPB):c.3769G>A (p.Gly1257Ser)	CDC42BPB, LOC126862066 (G1231S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663587	NM_006035.4(CDC42BPB):c.4549T>C (p.Cys1517Arg)	CDC42BPB (C1491R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662563	NM_006035.4(CDC42BPB):c.139C>T (p.Arg47Cys)	CDC42BPB (R47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644589	NM_006035.4(CDC42BPB):c.1552C>T (p.Arg518Cys)	CDC42BPB (R518C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644588	NM_006035.4(CDC42BPB):c.1575G>A (p.Thr525=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644587	NM_006035.4(CDC42BPB):c.4149G>A (p.Arg1383=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644586	NM_006035.4(CDC42BPB):c.5087G>A (p.Arg1696Lys)	CDC42BPB (R1670K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637607	NM_006035.4(CDC42BPB):c.4592-17G>A	CDC42BPB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2632621	NM_006035.4(CDC42BPB):c.4073A>G (p.Gln1358Arg)	CDC42BPB (Q1332R +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related condition	GUncertain significance
Select item 2629830	NM_006035.4(CDC42BPB):c.4353A>G (p.Gln1451=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition	GUncertain significance
Select item 2627007	NM_006035.4(CDC42BPB):c.2T>C (p.Met1Thr)	CDC42BPB (M1T)	Single nucleotide variant (missense variant +1 more)	Chilton-Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 2623840	NM_006035.4(CDC42BPB):c.3568A>G (p.Ser1190Gly)	CDC42BPB (S1164G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621452	NM_006035.4(CDC42BPB):c.4895C>T (p.Pro1632Leu)	CDC42BPB (P1606L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616106	NM_006035.4(CDC42BPB):c.4358G>A (p.Arg1453Gln)	CDC42BPB (R1427Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610545	NM_006035.4(CDC42BPB):c.5030C>T (p.Ser1677Leu)	CDC42BPB (S1651L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603197	NM_006035.4(CDC42BPB):c.1616G>A (p.Arg539Gln)	CDC42BPB (R539Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593945	NM_006035.4(CDC42BPB):c.4867G>T (p.Ala1623Ser)	CDC42BPB (A1623S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593265	NM_006035.4(CDC42BPB):c.1743C>A (p.Asn581Lys)	CDC42BPB (N581K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579875	NM_006035.4(CDC42BPB):c.3473C>T (p.Ser1158Leu)	CDC42BPB (S1132L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579779	NM_006035.4(CDC42BPB):c.1029A>C (p.Glu343Asp)	CDC42BPB (E343D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2574342	NM_006035.4(CDC42BPB):c.4971T>G (p.Ser1657Arg)	CDC42BPB (S1631R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571924	NM_006035.4(CDC42BPB):c.4342G>A (p.Val1448Met)	CDC42BPB (V1422M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570892	NM_006035.4(CDC42BPB):c.1482C>T (p.Ile494=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related condition +1 more	GLikely benign
Select item 2554233	NM_006035.4(CDC42BPB):c.1052G>A (p.Arg351Gln)	CDC42BPB (R351Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550990	NM_006035.4(CDC42BPB):c.4235A>G (p.Asn1412Ser)	CDC42BPB (N1386S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549150	NM_006035.4(CDC42BPB):c.4957G>A (p.Val1653Met)	CDC42BPB (V1627M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542996	NM_006035.4(CDC42BPB):c.5120C>T (p.Pro1707Leu)	CDC42BPB (P1681L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542225	NM_006035.4(CDC42BPB):c.2347C>T (p.Leu783Phe)	CDC42BPB (L783F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532690	NM_006035.4(CDC42BPB):c.3431G>A (p.Ser1144Asn)	CDC42BPB (S1144N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531514	NM_006035.4(CDC42BPB):c.3874A>G (p.Ile1292Val)	CDC42BPB (I1292V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530422	NM_006035.4(CDC42BPB):c.1144A>G (p.Ile382Val)	CDC42BPB (I382V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528808	NM_006035.4(CDC42BPB):c.4682C>T (p.Pro1561Leu)	CDC42BPB (P1535L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524208	NM_006035.4(CDC42BPB):c.444C>G (p.His148Gln)	CDC42BPB (H148Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515266	NM_006035.4(CDC42BPB):c.3745G>A (p.Val1249Met)	CDC42BPB (V1223M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505845	NM_006035.4(CDC42BPB):c.324C>G (p.Asn108Lys)	CDC42BPB (N108K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505222	NM_006035.4(CDC42BPB):c.3173T>C (p.Val1058Ala)	CDC42BPB (V1032A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504156	NM_006035.4(CDC42BPB):c.3593A>C (p.Asn1198Thr)	CDC42BPB (N1172T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2501409	NM_006035.4(CDC42BPB):c.3089T>G (p.Ile1030Ser)	CDC42BPB (I1004S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500648	NM_006035.4(CDC42BPB):c.2563G>T (p.Gly855Trp)	CDC42BPB (G855W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500642	NM_006035.4(CDC42BPB):c.4886G>T (p.Arg1629Leu)	CDC42BPB (R1603L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498599	NM_006035.4(CDC42BPB):c.2842C>T (p.Gln948Ter)	CDC42BPB (Q948*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2475502	NM_006035.4(CDC42BPB):c.4937G>C (p.Gly1646Ala)	CDC42BPB (G1620A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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