CDC42BPB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2429110	NC_000014.9:g.102573453_103575949del	AMN, BAG5 +87 more	Deletion	Mitochondrial complex 4 deficiency, nuclear type 17	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 56751	NM_030943.4(AMN):c.208-2A>G	AMN, CDC42BPB +1 more	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GPathogenic
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 3264989	NM_006035.4(CDC42BPB):c.5111T>C (p.Leu1704Pro)	CDC42BPB (L1678P +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 3336342	NM_006035.4(CDC42BPB):c.5012C>T (p.Ser1671Leu)	CDC42BPB (S1645L +1 more)	Single nucleotide variant (missense variant)	not specified	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 3264987	NM_006035.4(CDC42BPB):c.4861G>T (p.Gly1621Cys)	CDC42BPB (G1621C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257152	NM_006035.4(CDC42BPB):c.4821G>A (p.Leu1607=)	CDC42BPB	Single nucleotide variant (synonymous 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	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 3365033	NM_006035.4(CDC42BPB):c.4710-3C>T	CDC42BPB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 779741	NM_006035.4(CDC42BPB):c.4707G>A (p.Arg1569=)	CDC42BPB	Single nucleotide variant (synonymous variant)	not provided	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 3347373	NM_006035.4(CDC42BPB):c.4633A>C (p.Lys1545Gln)	CDC42BPB (K1519Q +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	GUncertain significance
Select item 3368989	NM_006035.4(CDC42BPB):c.4622A>C (p.Asp1541Ala)	CDC42BPB (D1515A +1 more)	Single nucleotide variant (missense variant)	not provided	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 3343097	NM_006035.4(CDC42BPB):c.4481G>A (p.Trp1494Ter)	CDC42BPB (W1468* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3347119	NM_006035.4(CDC42BPB):c.4397C>G (p.Pro1466Arg)	CDC42BPB (P1440R +1 more)	Single nucleotide variant (missense variant)	CDC42BPB-related disorder	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 3343463	NM_006035.4(CDC42BPB):c.4268C>G (p.Ser1423Cys)	CDC42BPB (S1397C +1 more)	Single nucleotide variant (missense variant)	not provided	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 3376483	NM_006035.4(CDC42BPB):c.4103A>G (p.Asn1368Ser)	CDC42BPB (N1342S +1 more)	Single nucleotide variant (missense variant)	Chilton-Okur-Chung neurodevelopmental syndrome	GUncertain significance
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)	not provided +1 more	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 3340896	NM_006035.4(CDC42BPB):c.3811+1G>A	CDC42BPB, LOC126862066	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3264983	NM_006035.4(CDC42BPB):c.3806G>A (p.Arg1269Gln)	CDC42BPB, LOC126862066 (R1243Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2272722	NM_006035.4(CDC42BPB):c.3796G>C (p.Glu1266Gln)	CDC42BPB, LOC126862066 (E1240Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359760	NM_006035.4(CDC42BPB):c.3784C>T (p.Leu1262Phe)	CDC42BPB, LOC126862066 (L1262F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1098691	NM_006035.4(CDC42BPB):c.3749-2A>C	CDC42BPB, LOC126862066	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

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