CDC42BPB[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3050976	NM_006035.4(CDC42BPB):c.5103C>T (p.Leu1701=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	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 disorder	GUncertain significance
Select item 2409073	NM_006035.4(CDC42BPB):c.5101C>G (p.Leu1701Val)	CDC42BPB (L1701V +1 more)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome +1 more	GUncertain significance
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 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 1722415	NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)	CDC42BPB (H1695fs)	Duplication (frameshift variant)	not specified	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 1314263	NM_006035.4(CDC42BPB):c.5054C>T (p.Pro1685Leu)	CDC42BPB (P1685L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2376077	NM_006035.4(CDC42BPB):c.5053C>A (p.Pro1685Thr)	CDC42BPB (P1659T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031778	NM_006035.4(CDC42BPB):c.5040G>A (p.Ser1680=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
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 2462743	NM_006035.4(CDC42BPB):c.4972A>T (p.Met1658Leu)	CDC42BPB (M1632L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 2475502	NM_006035.4(CDC42BPB):c.4937G>C (p.Gly1646Ala)	CDC42BPB (G1620A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773854	NM_006035.4(CDC42BPB):c.4933+4C>A	CDC42BPB	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 3024759	NM_006035.4(CDC42BPB):c.4723G>C (p.Asp1575His)	CDC42BPB (D1549H +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder +1 more	GLikely benign
Select item 3234132	NM_006035.4(CDC42BPB):c.4719T>G (p.Leu1573=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779741	NM_006035.4(CDC42BPB):c.4707G>A (p.Arg1569=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 2112242	NM_006035.4(CDC42BPB):c.4684G>C (p.Glu1562Gln)	CDC42BPB (E1562Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 3046295	NM_006035.4(CDC42BPB):c.4620C>T (p.Ser1540=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 2346723	NM_006035.4(CDC42BPB):c.4595C>T (p.Ala1532Val)	CDC42BPB (A1532V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2637607	NM_006035.4(CDC42BPB):c.4592-17G>A	CDC42BPB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3049885	NM_006035.4(CDC42BPB):c.4591+9T>G	CDC42BPB	Single nucleotide variant (intron variant)	CDC42BPB-related disorder	GLikely benign
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 2442087	NM_006035.4(CDC42BPB):c.4475T>C (p.Met1492Thr)	CDC42BPB (M1466T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	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 2276774	NM_006035.4(CDC42BPB):c.4469G>A (p.Arg1490His)	CDC42BPB (R1490H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2318311	NM_006035.4(CDC42BPB):c.4394C>T (p.Ala1465Val)	CDC42BPB (A1465V +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 2629830	NM_006035.4(CDC42BPB):c.4353A>G (p.Gln1451=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	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 2319401	NM_006035.4(CDC42BPB):c.4330A>G (p.Met1444Val)	CDC42BPB (M1418V +1 more)	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 3048064	NM_006035.4(CDC42BPB):c.4231C>T (p.Pro1411Ser)	CDC42BPB (P1385S +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GBenign
Select item 1703058	NM_006035.4(CDC42BPB):c.4168T>C (p.Tyr1390His)	CDC42BPB (Y1390H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644587	NM_006035.4(CDC42BPB):c.4149G>A (p.Arg1383=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443331	NM_006035.4(CDC42BPB):c.4130A>G (p.Gln1377Arg)	CDC42BPB (Q1351R +1 more)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	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 disorder	GUncertain significance
Select item 694469	NM_006035.4(CDC42BPB):c.4049G>C (p.Arg1350Pro)	CDC42BPB (R1350P)	Single nucleotide variant (missense variant)	CDC42BPB-related neurodevelopmental syndrome	GLikely pathogenic
Select item 3060624	NM_006035.4(CDC42BPB):c.4041C>T (p.Ala1347=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GBenign
Select item 3058424	NM_006035.4(CDC42BPB):c.3998C>T (p.Thr1333Met)	CDC42BPB (T1307M +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GLikely benign
Select item 1076774	NM_006035.4(CDC42BPB):c.3985C>T (p.Gln1329Ter)	CDC42BPB (Q1329*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2311382	NM_006035.4(CDC42BPB):c.3949A>T (p.Ser1317Cys)	CDC42BPB (S1317C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049207	NM_006035.4(CDC42BPB):c.3921G>A (p.Pro1307=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3050436	NM_006035.4(CDC42BPB):c.3918T>C (p.Tyr1306=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 2397031	NM_006035.4(CDC42BPB):c.3910C>T (p.His1304Tyr)	CDC42BPB (H1304Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694468	NM_006035.4(CDC42BPB):c.3896G>A (p.Arg1299Gln)	CDC42BPB (R1299Q)	Single nucleotide variant (missense variant)	CDC42BPB-related neurodevelopmental syndrome	GLikely pathogenic
Select item 2353808	NM_006035.4(CDC42BPB):c.3883C>A (p.Leu1295Ile)	CDC42BPB (L1269I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3025720	NM_006035.4(CDC42BPB):c.3748+8C>G	CDC42BPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2230982	NM_006035.4(CDC42BPB):c.3700G>A (p.Asp1234Asn)	CDC42BPB (D1208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1251945	NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter)	CDC42BPB (W1205*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
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 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 1334671	NM_006035.4(CDC42BPB):c.3551G>A (p.Gly1184Asp)	CDC42BPB (G1184D)	Single nucleotide variant (missense variant)	not provided	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 2439852	NM_006035.4(CDC42BPB):c.3451G>A (p.Asp1151Asn)	CDC42BPB (D1125N +1 more)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1304746	NM_006035.4(CDC42BPB):c.3449+6C>T	CDC42BPB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 2132251	NM_006035.4(CDC42BPB):c.3367G>C (p.Asp1123His)	CDC42BPB (D1097H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2691549	NM_006035.4(CDC42BPB):c.3310-5C>T	CDC42BPB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2429896	NM_006035.4(CDC42BPB):c.3304G>A (p.Val1102Ile)	CDC42BPB (V1076I +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	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 786257	NM_006035.4(CDC42BPB):c.3273G>A (p.Gln1091=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder +1 more	GBenign
Select item 3035870	NM_006035.4(CDC42BPB):c.3229A>G (p.Ile1077Val)	CDC42BPB (I1051V +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GBenign
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 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 1067660	NM_006035.4(CDC42BPB):c.3067-2A>G	CDC42BPB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2096731	NM_006035.4(CDC42BPB):c.3003_3026dup (p.Pro1009_Leu1010insProGlnArgProSerAlaValPro)	CDC42BPB	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2429710	NM_006035.4(CDC42BPB):c.2965G>A (p.Val989Met)	CDC42BPB (V989M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057416	NM_006035.4(CDC42BPB):c.2949G>A (p.Ala983=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GLikely benign
Select item 3051803	NM_006035.4(CDC42BPB):c.2948C>T (p.Ala983Val)	CDC42BPB (A983V)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GLikely benign
Select item 2498599	NM_006035.4(CDC42BPB):c.2842C>T (p.Gln948Ter)	CDC42BPB (Q948*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2305591	NM_006035.4(CDC42BPB):c.2824C>T (p.Leu942Phe)	CDC42BPB (L942F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059038	NM_006035.4(CDC42BPB):c.2799A>G (p.Glu933=)	CDC42BPB	Single nucleotide variant (synonymous variant)	CDC42BPB-related disorder	GBenign
Select item 3238803	NM_006035.4(CDC42BPB):c.2758_2759del (p.Glu920fs)	CDC42BPB (E920fs)	Microsatellite (frameshift 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 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 3049090	NM_006035.4(CDC42BPB):c.2711A>G (p.Asn904Ser)	CDC42BPB (N904S)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder +1 more	GBenign/Likely benign
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 694467	NM_006035.4(CDC42BPB):c.2627G>C (p.Arg876Pro)	CDC42BPB (R876P)	Single nucleotide variant (missense variant)	CDC42BPB-related neurodevelopmental syndrome	GLikely pathogenic
Select item 694466	NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp)	CDC42BPB (R876W)	Single nucleotide variant (missense variant)	CDC42BPB-related neurodevelopmental syndrome	GLikely pathogenic
Select item 707819	NM_006035.4(CDC42BPB):c.2625G>A (p.Ala875=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694465	NM_006035.4(CDC42BPB):c.2612T>C (p.Leu871Pro)	CDC42BPB (L871P)	Single nucleotide variant (missense variant)	CDC42BPB-related neurodevelopmental syndrome	GLikely pathogenic
Select item 694464	NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys)	CDC42BPB (R867C)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3233918	NM_006035.4(CDC42BPB):c.2582C>T (p.Pro861Leu)	CDC42BPB (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443332	NM_006035.4(CDC42BPB):c.2576T>A (p.Leu859Gln)	CDC42BPB (L859Q)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GLikely benign
Select item 2500648	NM_006035.4(CDC42BPB):c.2563G>T (p.Gly855Trp)	CDC42BPB (G855W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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