ClinVar for Gene (Select 23654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3421240	NM_012401.4(PLXNB2):c.2035A>C (p.Met679Leu)	PLXNB2 (M679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421239	NM_012401.4(PLXNB2):c.1158G>C (p.Gln386His)	PLXNB2 (Q386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421238	NM_012401.4(PLXNB2):c.805C>G (p.Pro269Ala)	PLXNB2 (P269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421237	NM_012401.4(PLXNB2):c.2090G>A (p.Gly697Asp)	PLXNB2 (G697D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3421236	NM_012401.4(PLXNB2):c.804C>A (p.Asp268Glu)	PLXNB2 (D268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421235	NM_012401.4(PLXNB2):c.3926G>A (p.Arg1309Gln)	PLXNB2 (R1278Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421234	NM_012401.4(PLXNB2):c.4023G>C (p.Glu1341Asp)	PLXNB2 (E1333D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421233	NM_012401.4(PLXNB2):c.2866C>T (p.Arg956Trp)	LOC126863184, PLXNB2 (R956W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421232	NM_012401.4(PLXNB2):c.2657C>A (p.Pro886His)	PLXNB2 (P886H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421231	NM_012401.4(PLXNB2):c.2420G>A (p.Arg807Lys)	PLXNB2 (R776K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421230	NM_012401.4(PLXNB2):c.5335C>T (p.Arg1779Trp)	PLXNB2 (R1771W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421229	NM_012401.4(PLXNB2):c.1690C>A (p.Pro564Thr)	PLXNB2 (P564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421228	NM_012401.4(PLXNB2):c.2749G>A (p.Gly917Ser)	LOC126863184, PLXNB2 (G917S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421227	NM_012401.4(PLXNB2):c.1294A>G (p.Ile432Val)	PLXNB2 (I432V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3421226	NM_012401.4(PLXNB2):c.2620G>A (p.Glu874Lys)	PLXNB2 (E897K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421225	NM_012401.4(PLXNB2):c.3583G>A (p.Asp1195Asn)	PLXNB2 (D1195N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421224	NM_012401.4(PLXNB2):c.1817C>T (p.Thr606Met)	PLXNB2 (T606M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421223	NM_012401.4(PLXNB2):c.2950G>C (p.Val984Leu)	LOC126863184, PLXNB2 (V1007L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421222	NM_012401.4(PLXNB2):c.1030C>T (p.Pro344Ser)	PLXNB2 (P344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421221	NM_012401.4(PLXNB2):c.3653A>C (p.Tyr1218Ser)	PLXNB2 (Y1297S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421220	NM_012401.4(PLXNB2):c.1159C>T (p.Arg387Cys)	PLXNB2 (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421219	NM_012401.4(PLXNB2):c.2368T>C (p.Tyr790His)	PLXNB2 (Y813H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421218	NM_012401.4(PLXNB2):c.2938C>T (p.Arg980Cys)	LOC126863184, PLXNB2 (R1003C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421217	NM_012401.4(PLXNB2):c.2371G>A (p.Glu791Lys)	PLXNB2 (E760K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421216	NM_012401.4(PLXNB2):c.850G>A (p.Val284Met)	PLXNB2 (V284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421215	NM_012401.4(PLXNB2):c.236C>T (p.Thr79Met)	PLXNB2 (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421213	NM_012401.4(PLXNB2):c.2320A>G (p.Asn774Asp)	PLXNB2 (N774D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3421212	NM_012401.4(PLXNB2):c.1187C>T (p.Thr396Met)	PLXNB2 (T396M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3421211	NM_012401.4(PLXNB2):c.3089G>A (p.Arg1030Gln)	LOC126863184, PLXNB2 (R1109Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392208	GRCh37/hg19 22q13.33(chr22:50489358-51121377)x3	ADM2, ARSA +26 more	Copy number gain	not provided	GUncertain significance
Select item 3307962	NM_012401.4(PLXNB2):c.3122T>C (p.Val1041Ala)	PLXNB2 (V1120A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307961	NM_012401.4(PLXNB2):c.974C>T (p.Ala325Val)	PLXNB2 (A325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307960	NM_012401.4(PLXNB2):c.922G>A (p.Gly308Ser)	PLXNB2 (G308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307959	NM_012401.4(PLXNB2):c.625G>A (p.Gly209Ser)	PLXNB2 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307958	NM_012401.4(PLXNB2):c.1561G>A (p.Val521Ile)	PLXNB2 (V521I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307957	NM_012401.4(PLXNB2):c.3975C>G (p.Ser1325Arg)	PLXNB2 (S1294R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307956	NM_012401.4(PLXNB2):c.1940G>A (p.Arg647Gln)	PLXNB2 (R647Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307955	NM_012401.4(PLXNB2):c.2426A>T (p.Gln809Leu)	PLXNB2 (Q832L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307954	NM_012401.4(PLXNB2):c.1513G>A (p.Glu505Lys)	PLXNB2 (E505K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307953	NM_012401.4(PLXNB2):c.868G>A (p.Gly290Ser)	PLXNB2 (G290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307952	NM_012401.4(PLXNB2):c.1767C>A (p.His589Gln)	PLXNB2 (H589Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307951	NM_012401.4(PLXNB2):c.800G>A (p.Arg267Gln)	PLXNB2 (R267Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307950	NM_012401.4(PLXNB2):c.1753C>T (p.Pro585Ser)	PLXNB2 (P585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307948	NM_012401.4(PLXNB2):c.1262C>T (p.Thr421Ile)	PLXNB2 (T421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215671	NM_012401.4(PLXNB2):c.944C>T (p.Pro315Leu)	PLXNB2 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215670	NM_012401.4(PLXNB2):c.86G>A (p.Arg29His)	PLXNB2 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215669	NM_012401.4(PLXNB2):c.844G>A (p.Ala282Thr)	PLXNB2 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215668	NM_012401.4(PLXNB2):c.802G>A (p.Asp268Asn)	PLXNB2 (D268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215667	NM_012401.4(PLXNB2):c.655G>A (p.Val219Met)	PLXNB2 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215666	NM_012401.4(PLXNB2):c.578G>A (p.Ser193Asn)	PLXNB2 (S193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215664	NM_012401.4(PLXNB2):c.5341C>T (p.His1781Tyr)	PLXNB2 (H1773Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215663	NM_012401.4(PLXNB2):c.5177C>T (p.Thr1726Met)	PLXNB2 (T1726M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215662	NM_012401.4(PLXNB2):c.490G>A (p.Gly164Ser)	PLXNB2 (G164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215661	NM_012401.4(PLXNB2):c.4847C>T (p.Ala1616Val)	PLXNB2 (A1590V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215660	NM_012401.4(PLXNB2):c.4537G>A (p.Val1513Met)	PLXNB2 (V1536M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215659	NM_012401.4(PLXNB2):c.4381G>T (p.Ala1461Ser)	PLXNB2 (A1430S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215657	NM_012401.4(PLXNB2):c.4141G>A (p.Val1381Met)	PLXNB2 (V1350M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215656	NM_012401.4(PLXNB2):c.4112C>T (p.Thr1371Met)	PLXNB2 (T1340M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215655	NM_012401.4(PLXNB2):c.3992A>G (p.Asn1331Ser)	PLXNB2 (N1331S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215654	NM_012401.4(PLXNB2):c.3928C>A (p.Pro1310Thr)	PLXNB2 (P1279T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215653	NM_012401.4(PLXNB2):c.3923G>A (p.Arg1308Gln)	PLXNB2 (R1331Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215652	NM_012401.4(PLXNB2):c.370G>T (p.Ala124Ser)	PLXNB2 (A124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215651	NM_012401.4(PLXNB2):c.3343C>T (p.Arg1115Trp)	PLXNB2 (R1138W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215650	NM_012401.4(PLXNB2):c.3331C>A (p.Leu1111Ile)	PLXNB2 (L1080I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215649	NM_012401.4(PLXNB2):c.3011C>T (p.Thr1004Met)	LOC126863184, PLXNB2 (T1004M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215648	NM_012401.4(PLXNB2):c.2965G>A (p.Glu989Lys)	LOC126863184, PLXNB2 (E1012K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215647	NM_012401.4(PLXNB2):c.2960C>T (p.Ala987Val)	LOC126863184, PLXNB2 (A1010V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215646	NM_012401.4(PLXNB2):c.2957G>A (p.Arg986Gln)	LOC126863184, PLXNB2 (R986Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215645	NM_012401.4(PLXNB2):c.2950G>A (p.Val984Ile)	LOC126863184, PLXNB2 (V953I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215644	NM_012401.4(PLXNB2):c.2807C>T (p.Pro936Leu)	LOC126863184, PLXNB2 (P905L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215643	NM_012401.4(PLXNB2):c.2791A>G (p.Thr931Ala)	LOC126863184, PLXNB2 (T900A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215642	NM_012401.4(PLXNB2):c.2723C>T (p.Ala908Val)	LOC126863184, PLXNB2 (A877V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215641	NM_012401.4(PLXNB2):c.2717C>T (p.Pro906Leu)	LOC126863184, PLXNB2 (P906L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215640	NM_012401.4(PLXNB2):c.2660A>G (p.Asn887Ser)	PLXNB2 (N887S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215639	NM_012401.4(PLXNB2):c.2647C>T (p.Arg883Cys)	PLXNB2 (R852C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215638	NM_012401.4(PLXNB2):c.2551C>T (p.Arg851Cys)	PLXNB2 (R851C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215637	NM_012401.4(PLXNB2):c.2510G>A (p.Arg837Lys)	PLXNB2 (R837K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215636	NM_012401.4(PLXNB2):c.2461A>C (p.Ile821Leu)	PLXNB2 (I790L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215635	NM_012401.4(PLXNB2):c.2458C>T (p.Arg820Cys)	PLXNB2 (R843C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215634	NM_012401.4(PLXNB2):c.2410G>C (p.Val804Leu)	PLXNB2 (V773L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215633	NM_012401.4(PLXNB2):c.2224G>A (p.Val742Ile)	PLXNB2 (V711I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215632	NM_012401.4(PLXNB2):c.2044G>A (p.Glu682Lys)	PLXNB2 (E682K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215631	NM_012401.4(PLXNB2):c.1972G>A (p.Val658Ile)	PLXNB2 (V658I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215630	NM_012401.4(PLXNB2):c.1925G>A (p.Arg642His)	PLXNB2 (R642H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215629	NM_012401.4(PLXNB2):c.1696C>T (p.Arg566Cys)	PLXNB2 (R566C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215628	NM_012401.4(PLXNB2):c.1508G>A (p.Arg503Gln)	PLXNB2 (R503Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215627	NM_012401.4(PLXNB2):c.1435C>T (p.Arg479Cys)	PLXNB2 (R479C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215626	NM_012401.4(PLXNB2):c.1387C>T (p.Arg463Trp)	PLXNB2 (R463W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215624	NM_012401.4(PLXNB2):c.1192G>A (p.Ala398Thr)	PLXNB2 (A398T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215623	NM_012401.4(PLXNB2):c.1063G>A (p.Ala355Thr)	PLXNB2 (A355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215622	NM_012401.4(PLXNB2):c.1012C>T (p.Arg338Cys)	PLXNB2 (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215621	NM_012401.4(PLXNB2):c.1004G>A (p.Arg335Gln)	PLXNB2 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	LOC105377205, LOC107181287 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	PIM3, PLXNB2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	PPP6R2, SELENOO +35 more	Copy number loss	not provided	GPathogenic

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