ClinVar for Gene (Select 5358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367384	NM_005032.7(PLS3):c.346G>A (p.Gly116Arg)	PLS3 (G116R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3352125	NM_005032.7(PLS3):c.1124A>G (p.Asn375Ser)	PLS3 (N330S +3 more)	Single nucleotide variant (missense variant)	PLS3-related disorder	GLikely benign
Select item 3340485	NM_005032.7(PLS3):c.1848G>A (p.Met616Ile)	PLS3 (M571I +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 3336930	NM_005032.7(PLS3):c.471C>G (p.Phe157Leu)	PLS3 (F112L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307859	NM_005032.7(PLS3):c.313G>C (p.Ala105Pro)	PLS3 (A60P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255588	NM_005032.7(PLS3):c.365C>A (p.Ser122Ter)	PLS3 (S100* +3 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 18	GLikely pathogenic
Select item 3254618	NM_005032.7(PLS3):c.696G>A (p.Trp232Ter)	PLS3 (W187* +3 more)	Single nucleotide variant (nonsense)	Bone mineral density quantitative trait locus 18	GPathogenic
Select item 3251138	NM_005032.7(PLS3):c.912T>C (p.His304=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246685	NC_000023.10:g.(?_114844563)_(114883881_?)dup	PLS3	Duplication	not provided	GUncertain significance
Select item 3246674	NC_000023.10:g.(?_113818282)_(115590299_?)del	AGTR2, DANT2 +8 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3215465	NM_005032.7(PLS3):c.986A>G (p.Asn329Ser)	PLS3 (N302S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215464	NM_005032.7(PLS3):c.77T>C (p.Leu26Pro)	PLS3 (L26P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3215463	NM_005032.7(PLS3):c.1643C>T (p.Thr548Met)	PLS3 (T535M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068633	NM_005032.7(PLS3):c.1192dup (p.Arg398fs)	PLS3 (R353fs +3 more)	Duplication (frameshift variant)	X-linked osteoporosis with fractures	GLikely pathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3062002	NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)	PLS3 (K319E +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 3056480	NM_005032.7(PLS3):c.749-8dup	PLS3	Duplication (intron variant)	PLS3-related disorder	GBenign
Select item 3046819	NM_005032.7(PLS3):c.1269G>A (p.Leu423=)	PLS3	Single nucleotide variant (synonymous variant)	PLS3-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3023894	NM_005032.7(PLS3):c.500+19T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019943	NM_005032.7(PLS3):c.748+4del	PLS3	Deletion (intron variant)	not provided	GLikely benign
Select item 3015488	NM_005032.7(PLS3):c.145C>T (p.Pro49Ser)	PLS3 (P49S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012892	NM_005032.7(PLS3):c.280C>T (p.Arg94Cys)	PLS3 (R49C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012029	NM_005032.7(PLS3):c.1415A>G (p.His472Arg)	PLS3 (H427R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008381	NM_005032.7(PLS3):c.1142_1145del (p.Thr381fs)	PLS3 (T354fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2988069	NM_005032.7(PLS3):c.1683C>T (p.Ala561=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2983390	NM_005032.7(PLS3):c.191G>A (p.Gly64Asp)	PLS3 (G42D +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2979939	NM_005032.7(PLS3):c.1596G>A (p.Leu532=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2964684	NM_005032.7(PLS3):c.342C>T (p.Ser114=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963023	NM_005032.7(PLS3):c.15T>C (p.Ala5=)	PLS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959318	NM_005032.7(PLS3):c.988-20T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2918017	NM_005032.7(PLS3):c.270C>A (p.Ala90=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915784	NM_005032.7(PLS3):c.1353G>A (p.Pro451=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898406	NM_005032.7(PLS3):c.630T>C (p.His210=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898405	NM_005032.7(PLS3):c.606C>T (p.Asn202=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893821	NM_005032.7(PLS3):c.658A>C (p.Arg220=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893820	NM_005032.7(PLS3):c.651A>G (p.Glu217=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890433	NM_005032.7(PLS3):c.1798G>A (p.Val600Met)	PLS3 (V600M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889184	NM_005032.7(PLS3):c.478G>A (p.Val160Ile)	PLS3 (V115I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884658	NM_005032.7(PLS3):c.1593G>A (p.Thr531=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871996	NM_005032.7(PLS3):c.1644G>A (p.Thr548=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855550	NM_005032.7(PLS3):c.501-4T>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833036	NM_005032.7(PLS3):c.394del (p.Trp132fs)	PLS3 (W110fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2830873	NM_005032.7(PLS3):c.661G>A (p.Ala221Thr)	PLS3 (A221T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811444	NM_005032.7(PLS3):c.323del (p.Gly108fs)	PLS3 (G108fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2798470	NM_005032.7(PLS3):c.750C>G (p.Ala250=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796419	NM_005032.7(PLS3):c.1511+9C>T	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793665	NM_005032.7(PLS3):c.1767A>G (p.Ala589=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791627	NM_005032.7(PLS3):c.1383A>G (p.Glu461=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786263	NM_005032.7(PLS3):c.822T>C (p.Leu274=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776998	NM_005032.7(PLS3):c.1098C>T (p.Asn366=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760156	NM_005032.7(PLS3):c.1237A>G (p.Asn413Asp)	PLS3 (N386D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757377	NM_005032.7(PLS3):c.412G>A (p.Glu138Lys)	PLS3 (E138K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719179	NM_005032.7(PLS3):c.928G>T (p.Ala310Ser)	PLS3 (A283S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699544	NM_005032.7(PLS3):c.352C>T (p.Gln118Ter)	PLS3 (Q73* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2695078	NM_005032.7(PLS3):c.935A>C (p.Lys312Thr)	PLS3 (K299T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661253	NM_005032.7(PLS3):c.1209C>G (p.Phe403Leu)	PLS3 (F358L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637924	NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)	PLS3 (W499C +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 2637923	NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)	PLS3 (E270K +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 2637922	NM_005032.7(PLS3):c.1774A>G (p.Met592Val)	PLS3 (M592V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 2571376	NM_005032.7(PLS3):c.748+1G>A	PLS3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2496359	NM_005032.7(PLS3):c.1243C>T (p.His415Tyr)	PLS3 (H388Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485048	NM_005032.7(PLS3):c.1696T>G (p.Cys566Gly)	PLS3 (C539G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484587	NM_005032.7(PLS3):c.928G>A (p.Ala310Thr)	PLS3 (A283T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425282	NC_000023.10:g.(?_114871128)_(114871310_?)dup	PLS3	Duplication	not provided	GLikely pathogenic
Select item 2425281	NC_000023.10:g.(?_114844563)_(114844655_?)del	PLS3	Deletion	not provided	GPathogenic
Select item 2425280	NC_000023.10:g.(?_114844563)_(114883881_?)del	PLS3	Deletion	not provided	GPathogenic
Select item 2373382	NM_005032.7(PLS3):c.1343C>T (p.Pro448Leu)	PLS3 (P421L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339830	NM_005032.7(PLS3):c.1540G>C (p.Gly514Arg)	PLS3 (G469R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327650	NM_005032.7(PLS3):c.701T>C (p.Ile234Thr)	PLS3 (I207T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301800	NM_005032.7(PLS3):c.1802A>G (p.Tyr601Cys)	PLS3 (Y556C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2286112	NM_005032.7(PLS3):c.877A>G (p.Ser293Gly)	PLS3 (S266G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2273675	NM_005032.7(PLS3):c.56A>G (p.Glu19Gly)	PLS3 (E19G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192456	NM_005032.7(PLS3):c.1563C>T (p.Asp521=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2183929	NM_005032.7(PLS3):c.226G>A (p.Glu76Lys)	PLS3 (E54K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181656	NM_005032.7(PLS3):c.1727A>G (p.Asn576Ser)	PLS3 (N531S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119651	NM_005032.7(PLS3):c.1169G>A (p.Trp390Ter)	PLS3 (W390* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2111137	NM_005032.7(PLS3):c.1050_1053del (p.Arg350fs)	PLS3 (R305fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2106959	NM_005032.7(PLS3):c.73+8T>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100052	NM_005032.7(PLS3):c.281G>A (p.Arg94His)	PLS3 (R49H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090539	NM_005032.7(PLS3):c.865_866delinsG (p.Ile289fs)	PLS3 (I267fs +3 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2088078	NM_005032.7(PLS3):c.501-7G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081062	NM_005032.7(PLS3):c.86A>G (p.Asn29Ser)	PLS3 (N7S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2069649	NM_005032.7(PLS3):c.1425A>G (p.Lys475=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067907	NM_005032.7(PLS3):c.471C>T (p.Phe157=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2065860	NM_005032.7(PLS3):c.1108G>A (p.Val370Met)	PLS3 (V343M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058539	NM_005032.7(PLS3):c.1545T>C (p.Asp515=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2047157	NM_005032.7(PLS3):c.501-6T>C	PLS3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2044534	NM_005032.7(PLS3):c.132T>G (p.Ala44=)	PLS3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2041133	NM_005032.7(PLS3):c.1453G>T (p.Asp485Tyr)	PLS3 (D458Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032457	NM_005032.7(PLS3):c.683del (p.Leu228fs)	PLS3 (L201fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2032414	NM_005032.7(PLS3):c.754G>A (p.Ala252Thr)	PLS3 (A207T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972104	NM_005032.7(PLS3):c.987+13G>A	PLS3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950437	NM_005032.7(PLS3):c.794T>A (p.Met265Lys)	PLS3 (M220K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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