"Ambry Genetics"[submitter] AND "CDC42BPB"[gene] - ClinVar

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Items: 53

	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 2409073	NM_006035.4(CDC42BPB):c.5101C>G (p.Leu1701Val)	CDC42BPB (L1701V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2305591	NM_006035.4(CDC42BPB):c.2824C>T (p.Leu942Phe)	CDC42BPB (L942F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317479	NM_006035.4(CDC42BPB):c.2420A>G (p.Lys807Arg)	CDC42BPB (K807R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325427	NM_006035.4(CDC42BPB):c.2396A>G (p.Asp799Gly)	CDC42BPB (D799G)	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 2395275	NM_006035.4(CDC42BPB):c.2018C>T (p.Ala673Val)	CDC42BPB (A673V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2206438	NM_006035.4(CDC42BPB):c.2011C>G (p.Arg671Gly)	CDC42BPB (R671G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223707	NM_006035.4(CDC42BPB):c.2000A>G (p.Lys667Arg)	CDC42BPB (K667R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350927	NM_006035.4(CDC42BPB):c.1949G>A (p.Ser650Asn)	CDC42BPB (S650N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366666	NM_006035.4(CDC42BPB):c.1796G>A (p.Arg599Gln)	CDC42BPB (R599Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230152	NM_006035.4(CDC42BPB):c.1787G>A (p.Arg596Gln)	CDC42BPB (R596Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2603197	NM_006035.4(CDC42BPB):c.1616G>A (p.Arg539Gln)	CDC42BPB (R539Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2314953	NM_006035.4(CDC42BPB):c.1612G>A (p.Val538Ile)	CDC42BPB (V538I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371806	NM_006035.4(CDC42BPB):c.1606C>T (p.Arg536Cys)	CDC42BPB (R536C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214761	NM_006035.4(CDC42BPB):c.1562G>A (p.Arg521His)	CDC42BPB (R521H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 985783	NM_006035.4(CDC42BPB):c.1534G>C (p.Glu512Gln)	CDC42BPB (E512Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332873	NM_006035.4(CDC42BPB):c.1501A>G (p.Ile501Val)	CDC42BPB (I501V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289899	NM_006035.4(CDC42BPB):c.1432C>A (p.Leu478Ile)	CDC42BPB (L478I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384735	NM_006035.4(CDC42BPB):c.1426C>T (p.Arg476Trp)	CDC42BPB (R476W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2216856	NM_006035.4(CDC42BPB):c.1411del (p.Leu471fs)	CDC42BPB (L471fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 2554233	NM_006035.4(CDC42BPB):c.1052G>A (p.Arg351Gln)	CDC42BPB (R351Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355451	NM_006035.4(CDC42BPB):c.976C>T (p.Arg326Cys)	CDC42BPB (R326C)	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 2465931	NM_006035.4(CDC42BPB):c.376G>A (p.Asp126Asn)	CDC42BPB (D126N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222904	NM_006035.4(CDC42BPB):c.352-5T>C	CDC42BPB	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2470966	NM_006035.4(CDC42BPB):c.151T>C (p.Tyr51His)	CDC42BPB (Y51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 53