ClinVar for Gene (Select 5361) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215532	NM_032242.4(PLXNA1):c.526G>A (p.Gly176Arg)	PLXNA1 (G176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215531	NM_032242.4(PLXNA1):c.4997G>A (p.Arg1666His)	PLXNA1 (R1666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215530	NM_032242.4(PLXNA1):c.4594A>G (p.Lys1532Glu)	PLXNA1 (K1532E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215529	NM_032242.4(PLXNA1):c.3989G>A (p.Arg1330Gln)	PLXNA1 (R1330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215528	NM_032242.4(PLXNA1):c.3775G>A (p.Val1259Ile)	PLXNA1 (V1259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215527	NM_032242.4(PLXNA1):c.3320C>T (p.Pro1107Leu)	PLXNA1 (P1107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215526	NM_032242.4(PLXNA1):c.314C>T (p.Pro105Leu)	PLXNA1 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215524	NM_032242.4(PLXNA1):c.2722A>G (p.Ser908Gly)	PLXNA1 (S908G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215523	NM_032242.4(PLXNA1):c.2618C>G (p.Thr873Arg)	PLXNA1 (T873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215522	NM_032242.4(PLXNA1):c.231C>A (p.Asn77Lys)	PLXNA1 (N77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215521	NM_032242.4(PLXNA1):c.2246C>T (p.Pro749Leu)	PLXNA1 (P749L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215519	NM_032242.4(PLXNA1):c.2043A>C (p.Lys681Asn)	PLXNA1 (K681N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215518	NM_032242.4(PLXNA1):c.2042A>C (p.Lys681Thr)	PLXNA1 (K681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215517	NM_032242.4(PLXNA1):c.2041A>C (p.Lys681Gln)	PLXNA1 (K681Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215516	NM_032242.4(PLXNA1):c.1733C>T (p.Ser578Phe)	PLXNA1 (S578F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068005	NM_032242.4(PLXNA1):c.2111A>G (p.Glu704Gly)	PLXNA1 (E704G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GLikely pathogenic
Select item 3067401	NM_032242.4(PLXNA1):c.5551G>A (p.Ala1851Thr)	PLXNA1 (A1851T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065658	NM_032242.4(PLXNA1):c.3679G>A (p.Glu1227Lys)	PLXNA1 (E1227K)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome +1 more	GUncertain significance
Select item 3065648	NM_032242.4(PLXNA1):c.1043G>C (p.Arg348Pro)	PLXNA1 (R348P)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3064773	NM_032242.4(PLXNA1):c.1643A>G (p.Glu548Gly)	PLXNA1 (E548G)	Single nucleotide variant (missense variant)	Dworschak-Punetha neurodevelopmental syndrome	GUncertain significance
Select item 3064008	NM_032242.4(PLXNA1):c.2618C>T (p.Thr873Met)	PLXNA1 (T873M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 3061536	NM_032242.4(PLXNA1):c.5112G>A (p.Thr1704=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3061472	NM_032242.4(PLXNA1):c.4482C>T (p.Ile1494=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3060564	NM_032242.4(PLXNA1):c.2412G>A (p.Ala804=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3060431	NM_032242.4(PLXNA1):c.2568C>T (p.His856=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3060064	NM_032242.4(PLXNA1):c.5157C>T (p.Phe1719=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3058563	NM_032242.4(PLXNA1):c.3369G>A (p.Pro1123=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3058511	NM_032242.4(PLXNA1):c.3364C>T (p.Arg1122Trp)	PLXNA1 (R1122W)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3058159	NM_032242.4(PLXNA1):c.4509+6C>T	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3057655	NM_032242.4(PLXNA1):c.447G>A (p.Leu149=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3057512	NM_032242.4(PLXNA1):c.2751G>A (p.Ala917=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3057431	NM_032242.4(PLXNA1):c.2988C>T (p.Val996=)	LOC129937476, PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3057361	NM_032242.4(PLXNA1):c.209G>A (p.Arg70His)	PLXNA1 (R70H)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3057087	NM_032242.4(PLXNA1):c.1701T>G (p.Thr567=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3056645	NM_032242.4(PLXNA1):c.486C>T (p.Ser162=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3055074	NM_032242.4(PLXNA1):c.2499C>T (p.Ala833=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054959	NM_032242.4(PLXNA1):c.2529C>T (p.Cys843=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054785	NM_032242.4(PLXNA1):c.972G>T (p.Leu324=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054587	NM_032242.4(PLXNA1):c.846C>T (p.Ile282=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054577	NM_032242.4(PLXNA1):c.1998-7C>T	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3054355	NM_032242.4(PLXNA1):c.183C>T (p.Gly61=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054322	NM_032242.4(PLXNA1):c.1889G>A (p.Arg630Gln)	PLXNA1 (R630Q)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3054307	NM_032242.4(PLXNA1):c.4818C>T (p.Ser1606=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054301	NM_032242.4(PLXNA1):c.2052C>T (p.His684=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054197	NM_032242.4(PLXNA1):c.1194G>A (p.Ser398=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054184	NM_032242.4(PLXNA1):c.4173G>A (p.Ser1391=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054131	NM_032242.4(PLXNA1):c.4338C>T (p.Thr1446=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054055	NM_032242.4(PLXNA1):c.3384C>T (p.Phe1128=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054014	NM_032242.4(PLXNA1):c.1362T>C (p.Ser454=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3054007	NM_032242.4(PLXNA1):c.525C>T (p.Ala175=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3053979	NM_032242.4(PLXNA1):c.2188C>T (p.Arg730Trp)	PLXNA1 (R730W)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3053954	NM_032242.4(PLXNA1):c.1704G>A (p.Val568=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3053936	NM_032242.4(PLXNA1):c.4510-8G>A	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3053325	NM_032242.4(PLXNA1):c.2247G>A (p.Pro749=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3053053	NM_032242.4(PLXNA1):c.49T>C (p.Leu17=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052960	NM_032242.4(PLXNA1):c.2625G>T (p.Pro875=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052920	NM_032242.4(PLXNA1):c.1299C>G (p.Gly433=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052460	NM_032242.4(PLXNA1):c.66G>A (p.Pro22=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052309	NM_032242.4(PLXNA1):c.558C>T (p.Phe186=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052140	NM_032242.4(PLXNA1):c.1083G>A (p.Thr361=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3052026	NM_032242.4(PLXNA1):c.970C>T (p.Leu324=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3051699	NM_032242.4(PLXNA1):c.640G>A (p.Asp214Asn)	PLXNA1 (D214N)	Single nucleotide variant (missense variant)	PLXNA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3051549	NM_032242.4(PLXNA1):c.3849C>G (p.Leu1283=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3051529	NM_032242.4(PLXNA1):c.1432G>A (p.Val478Ile)	PLXNA1 (V478I)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GLikely benign
Select item 3051120	NM_032242.4(PLXNA1):c.864C>T (p.Asp288=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3051069	NM_032242.4(PLXNA1):c.619A>T (p.Met207Leu)	PLXNA1 (M207L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3051039	NM_032242.4(PLXNA1):c.5062-4G>A	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3051009	NM_032242.4(PLXNA1):c.3567G>A (p.Thr1189=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3051000	NM_032242.4(PLXNA1):c.1378-4G>A	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3050652	NM_032242.4(PLXNA1):c.2112+6G>A	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3050552	NM_032242.4(PLXNA1):c.3339G>T (p.Val1113=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3049497	NM_032242.4(PLXNA1):c.1628G>A (p.Arg543Gln)	PLXNA1 (R543Q)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3049216	NM_032242.4(PLXNA1):c.2908C>T (p.Arg970Cys)	LOC129937476, PLXNA1 (R970C)	Single nucleotide variant (missense variant)	PLXNA1-related condition +1 more	GUncertain significance
Select item 3049188	NM_032242.4(PLXNA1):c.3096C>T (p.Arg1032=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3049128	NM_032242.4(PLXNA1):c.2484C>T (p.Cys828=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3048832	NM_032242.4(PLXNA1):c.3182+7C>T	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3048819	NM_032242.4(PLXNA1):c.3337G>C (p.Val1113Leu)	PLXNA1 (V1113L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GLikely benign
Select item 3048763	NM_032242.4(PLXNA1):c.882G>A (p.Ser294=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3048239	NM_032242.4(PLXNA1):c.5049A>T (p.Leu1683=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3048154	NM_032242.4(PLXNA1):c.4935C>T (p.Pro1645=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047988	NM_032242.4(PLXNA1):c.2268C>T (p.Thr756=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047877	NM_032242.4(PLXNA1):c.2494G>A (p.Val832Met)	PLXNA1 (V832M)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GLikely benign
Select item 3047732	NM_032242.4(PLXNA1):c.2067C>T (p.Asn689=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047654	NM_032242.4(PLXNA1):c.5406C>T (p.Tyr1802=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047567	NM_032242.4(PLXNA1):c.4008C>T (p.Ile1336=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047072	NM_032242.4(PLXNA1):c.168G>A (p.Val56=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3047056	NM_032242.4(PLXNA1):c.3095G>A (p.Arg1032His)	PLXNA1 (R1032H)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3046864	NM_032242.4(PLXNA1):c.2787C>T (p.Ser929=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3046695	NM_032242.4(PLXNA1):c.3564C>T (p.Tyr1188=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3046304	NM_032242.4(PLXNA1):c.4363-5C>T	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3046032	NM_032242.4(PLXNA1):c.1456A>G (p.Ile486Val)	PLXNA1 (I486V)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3045944	NM_032242.4(PLXNA1):c.2148C>T (p.Tyr716=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3045683	NM_032242.4(PLXNA1):c.2757-3C>T	PLXNA1	Single nucleotide variant (intron variant)	PLXNA1-related condition	GLikely benign
Select item 3045514	NM_032242.4(PLXNA1):c.15G>A (p.Pro5=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3045410	NM_032242.4(PLXNA1):c.627C>T (p.Asn209=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3045407	NM_032242.4(PLXNA1):c.3678C>T (p.Phe1226=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3045213	NM_032242.4(PLXNA1):c.3540A>G (p.Ala1180=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3044810	NM_032242.4(PLXNA1):c.5181C>T (p.Asp1727=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3044290	NM_032242.4(PLXNA1):c.3202G>T (p.Val1068Phe)	PLXNA1 (V1068F)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance

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