PLXNA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 1636419	NM_032242.4(PLXNA1):c.5C>T (p.Pro2Leu)	PLXNA1 (P2L)	Single nucleotide variant (missense variant)	PLXNA1-related condition +1 more	GLikely benign
Select item 983372	NM_032242.4(PLXNA1):c.5C>A (p.Pro2Gln)	PLXNA1 (P2Q)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 2866220	NM_032242.4(PLXNA1):c.14C>T (p.Pro5Leu)	PLXNA1 (P5L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2654097	NM_032242.4(PLXNA1):c.15G>T (p.Pro5=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	GLikely benign
Select item 2713615	NM_032242.4(PLXNA1):c.16C>T (p.Arg6Trp)	PLXNA1 (R6W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2458296	NM_032242.4(PLXNA1):c.17G>A (p.Arg6Gln)	PLXNA1 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778111	NM_032242.4(PLXNA1):c.20G>T (p.Ser7Ile)	PLXNA1 (S7I)	Single nucleotide variant (missense variant)	PLXNA1-related condition +1 more	GBenign/Likely benign
Select item 2045806	NM_032242.4(PLXNA1):c.33C>T (p.Leu11=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	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 3036707	NM_032242.4(PLXNA1):c.65C>T (p.Pro22Leu)	PLXNA1 (P22L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
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 2636881	NM_032242.4(PLXNA1):c.86G>C (p.Gly29Ala)	PLXNA1 (G29A)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2635894	NM_032242.4(PLXNA1):c.103G>A (p.Gly35Arg)	PLXNA1 (G35R)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2636202	NM_032242.4(PLXNA1):c.115C>T (p.Pro39Ser)	PLXNA1 (P39S)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2610502	NM_032242.4(PLXNA1):c.115C>A (p.Pro39Thr)	PLXNA1 (P39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039386	NM_032242.4(PLXNA1):c.118C>G (p.Pro40Ala)	PLXNA1 (P40A)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GLikely benign
Select item 3032194	NM_032242.4(PLXNA1):c.119C>T (p.Pro40Leu)	PLXNA1 (P40L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2180461	NM_032242.4(PLXNA1):c.119C>G (p.Pro40Arg)	PLXNA1 (P40R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2070507	NM_032242.4(PLXNA1):c.119C>A (p.Pro40His)	PLXNA1 (P40H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3030557	NM_032242.4(PLXNA1):c.120C>T (p.Pro40=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2634543	NM_032242.4(PLXNA1):c.124C>T (p.Arg42Cys)	PLXNA1 (R42C)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2634535	NM_032242.4(PLXNA1):c.134C>T (p.Ser45Leu)	PLXNA1 (S45L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2958228	NM_032242.4(PLXNA1):c.135G>A (p.Ser45=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462098	NM_032242.4(PLXNA1):c.137C>A (p.Ala46Asp)	PLXNA1 (A46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632006	NM_032242.4(PLXNA1):c.142G>A (p.Asp48Asn)	PLXNA1 (D48N)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
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 3054355	NM_032242.4(PLXNA1):c.183C>T (p.Gly61=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2635004	NM_032242.4(PLXNA1):c.184G>A (p.Glu62Lys)	PLXNA1 (E62K)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2634385	NM_032242.4(PLXNA1):c.187G>T (p.Val63Leu)	PLXNA1 (V63L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3031751	NM_032242.4(PLXNA1):c.198C>T (p.Gly66=)	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 3040999	NM_032242.4(PLXNA1):c.225G>A (p.Ser75=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 1925876	NM_032242.4(PLXNA1):c.228G>C (p.Gly76=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 867239	NM_032242.4(PLXNA1):c.231C>G (p.Asn77Lys)	PLXNA1 (N77K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2993440	NM_032242.4(PLXNA1):c.237A>G (p.Thr79=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924688	NM_032242.4(PLXNA1):c.258G>A (p.Thr86=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3040773	NM_032242.4(PLXNA1):c.291G>A (p.Pro97=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3014332	NM_032242.4(PLXNA1):c.294G>A (p.Pro98=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515089	NM_032242.4(PLXNA1):c.301G>A (p.Val101Met)	PLXNA1 (V101M)	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 3037000	NM_032242.4(PLXNA1):c.319G>A (p.Gly107Ser)	PLXNA1 (G107S)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GLikely benign
Select item 2063862	NM_032242.4(PLXNA1):c.329G>A (p.Ser110Asn)	PLXNA1 (S110N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2284833	NM_032242.4(PLXNA1):c.344A>G (p.Asn115Ser)	PLXNA1 (N115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098571	NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro)	PLXNA1 (L119P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1601311	NM_032242.4(PLXNA1):c.369C>T (p.Ala123=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	GBenign
Select item 2672952	NM_032242.4(PLXNA1):c.370G>A (p.Ala124Thr)	PLXNA1 (A124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342549	NM_032242.4(PLXNA1):c.386C>T (p.Ala129Val)	PLXNA1 (A129V)	Single nucleotide variant (missense variant)	PLXNA1-associated encephalopathy	GUncertain significance
Select item 3032971	NM_032242.4(PLXNA1):c.396C>T (p.Ser132=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3029402	NM_032242.4(PLXNA1):c.420C>T (p.Phe140=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 1325617	NM_032242.4(PLXNA1):c.433G>A (p.Asp145Asn)	PLXNA1 (D145N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3056645	NM_032242.4(PLXNA1):c.486C>T (p.Ser162=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3031638	NM_032242.4(PLXNA1):c.487G>A (p.Val163Met)	PLXNA1 (V163M)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2628773	NM_032242.4(PLXNA1):c.496G>A (p.Ala166Thr)	PLXNA1 (A166T)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2634255	NM_032242.4(PLXNA1):c.509C>T (p.Ala170Val)	PLXNA1 (A170V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2605717	NM_032242.4(PLXNA1):c.520A>T (p.Ile174Phe)	PLXNA1 (I174F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605718	NM_032242.4(PLXNA1):c.524C>T (p.Ala175Val)	PLXNA1 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3215532	NM_032242.4(PLXNA1):c.526G>A (p.Gly176Arg)	PLXNA1 (G176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032313	NM_032242.4(PLXNA1):c.534G>A (p.Pro178=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2636904	NM_032242.4(PLXNA1):c.542G>A (p.Gly181Asp)	PLXNA1 (G181D)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3040485	NM_032242.4(PLXNA1):c.549C>T (p.Ala183=)	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 2044940	NM_032242.4(PLXNA1):c.573C>T (p.Ile191=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	GLikely benign
Select item 3029102	NM_032242.4(PLXNA1):c.582G>A (p.Lys194=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2323894	NM_032242.4(PLXNA1):c.582G>T (p.Lys194Asn)	PLXNA1 (K194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632100	NM_032242.4(PLXNA1):c.614G>A (p.Arg205Gln)	PLXNA1 (R205Q)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 2233799	NM_032242.4(PLXNA1):c.617T>G (p.Leu206Arg)	PLXNA1 (L206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3045410	NM_032242.4(PLXNA1):c.627C>T (p.Asn209=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2245973	NM_032242.4(PLXNA1):c.636T>A (p.Asp212Glu)	PLXNA1 (D212E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2960111	NM_032242.4(PLXNA1):c.639C>T (p.Ala213=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	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 3036335	NM_032242.4(PLXNA1):c.648C>T (p.Phe216=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2594826	NM_032242.4(PLXNA1):c.649G>A (p.Gly217Ser)	PLXNA1 (G217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1897485	NM_032242.4(PLXNA1):c.660C>T (p.Tyr220=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803541	NM_032242.4(PLXNA1):c.705G>A (p.Thr235=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635735	NM_032242.4(PLXNA1):c.719C>T (p.Pro240Leu)	PLXNA1 (P240L)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 1524459	NM_032242.4(PLXNA1):c.772T>C (p.Tyr258His)	PLXNA1 (Y258H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2279518	NM_032242.4(PLXNA1):c.779C>T (p.Thr260Met)	PLXNA1 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2888590	NM_032242.4(PLXNA1):c.786G>A (p.Gln262=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2461693	NM_032242.4(PLXNA1):c.809C>T (p.Pro270Leu)	PLXNA1 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1641395	NM_032242.4(PLXNA1):c.816C>T (p.Ala272=)	PLXNA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635779	NM_032242.4(PLXNA1):c.817G>A (p.Ala273Thr)	PLXNA1 (A273T)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3030621	NM_032242.4(PLXNA1):c.820G>A (p.Gly274Ser)	PLXNA1 (G274S)	Single nucleotide variant (missense variant)	PLXNA1-related condition	GUncertain significance
Select item 3032042	NM_032242.4(PLXNA1):c.831C>T (p.Phe277=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 3035917	NM_032242.4(PLXNA1):c.837G>A (p.Thr279=)	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 3032568	NM_032242.4(PLXNA1):c.846C>A (p.Ile282=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2332815	NM_032242.4(PLXNA1):c.847G>A (p.Val283Met)	PLXNA1 (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3048763	NM_032242.4(PLXNA1):c.882G>A (p.Ser294=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition	GLikely benign
Select item 2889872	NM_032242.4(PLXNA1):c.885C>T (p.Tyr295=)	PLXNA1	Single nucleotide variant (synonymous variant)	PLXNA1-related condition +1 more	GLikely benign

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