ClinVar for Gene (Select 8425) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381453	NM_001042545.2(LTBP4):c.2321G>T (p.Gly774Val)	LTBP4 (G774V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378289	NM_001042545.2(LTBP4):c.2501T>C (p.Phe834Ser)	LTBP4 (F834S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375752	NM_003573.2(LTBP4):c.184C>T (p.Pro62Ser)	LTBP4 (P62S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375733	NM_001042545.2(LTBP4):c.4619G>A (p.Gly1540Glu)	LTBP4 (G1540E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373386	NM_001042545.2(LTBP4):c.1361G>A (p.Arg454Gln)	LTBP4 (R454Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373274	NM_001042545.2(LTBP4):c.301C>T (p.Arg101Cys)	LTBP4 (R101C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369708	NM_001042545.2(LTBP4):c.3296G>A (p.Arg1099His)	LTBP4 (R1099H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369580	NM_001042545.2(LTBP4):c.301C>G (p.Arg101Gly)	LTBP4 (R101G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369210	NM_001042545.2(LTBP4):c.2056G>A (p.Val686Met)	LTBP4 (V686M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368398	NM_001042544.1(LTBP4):c.22G>T (p.Gly8Cys)	LTBP4 (G8C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366762	NM_001042545.2(LTBP4):c.3766T>A (p.Cys1256Ser)	LTBP4 (C1256S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365894	NM_001042545.2(LTBP4):c.3514C>T (p.Arg1172Trp)	LTBP4 (R1172W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363698	NM_001042545.2(LTBP4):c.4472G>A (p.Arg1491His)	LTBP4 (R1491H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361597	NM_001042545.2(LTBP4):c.4106C>T (p.Pro1369Leu)	LTBP4 (P1369L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359820	NM_001042545.2(LTBP4):c.1906C>T (p.Arg636Trp)	LTBP4 (R636W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352277	NM_003573.2(LTBP4):c.17-1964C>T	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 3351827	NM_001042545.2(LTBP4):c.4289G>A (p.Arg1430His)	LTBP4 (R1430H +2 more)	Single nucleotide variant (missense variant)	LTBP4-related disorder	GUncertain significance
Select item 3350565	NM_001042545.2(LTBP4):c.358G>T (p.Ala120Ser)	LTBP4 (A120S +2 more)	Single nucleotide variant (missense variant)	LTBP4-related disorder	GUncertain significance
Select item 3349609	NM_003573.2(LTBP4):c.17-1969C>A	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 3343858	NM_001042545.2(LTBP4):c.519_520del (p.Ser174fs)	LTBP4 (S174fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3342747	NM_001042545.2(LTBP4):c.567_584del (p.187RAEAAA[1])	LTBP4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3342111	NM_001042545.2(LTBP4):c.1784C>A (p.Ala595Asp)	LTBP4 (A595D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341166	NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)	LTBP4 (P1543L +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely benign
Select item 3292275	NM_001042545.2(LTBP4):c.2644G>A (p.Gly882Arg)	LTBP4 (G882R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292274	NM_001042545.2(LTBP4):c.722A>G (p.Gln241Arg)	LOC130064475, LTBP4 (Q241R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292273	NM_001042545.2(LTBP4):c.2293T>A (p.Cys765Ser)	LTBP4 (C765S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292272	NM_001042545.2(LTBP4):c.3294C>T (p.Pro1098=)	LTBP4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3292271	NM_001042545.2(LTBP4):c.562G>A (p.Ala188Thr)	LTBP4 (A188T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292270	NM_001042545.2(LTBP4):c.1462G>T (p.Val488Phe)	LTBP4 (V518F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292269	NM_001042545.2(LTBP4):c.2168C>A (p.Ser723Tyr)	LTBP4 (S790Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292268	NM_001042545.2(LTBP4):c.2023C>T (p.Arg675Cys)	LTBP4 (R675C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292267	NM_003573.2(LTBP4):c.332A>G (p.Lys111Arg)	LTBP4 (K111R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292266	NM_001042545.2(LTBP4):c.2035C>T (p.Pro679Ser)	LTBP4 (P679S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292265	NM_001042545.2(LTBP4):c.1654C>G (p.Arg552Gly)	LTBP4 (R619G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292263	NM_001042545.2(LTBP4):c.2041G>T (p.Ala681Ser)	LTBP4 (A681S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292262	NM_001042545.2(LTBP4):c.2665C>G (p.Leu889Val)	LTBP4 (L919V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292261	NM_001042545.2(LTBP4):c.949C>T (p.Pro317Ser)	LOC121627876, LTBP4 (P317S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292260	NM_001042545.2(LTBP4):c.3469C>T (p.Pro1157Ser)	LTBP4 (P1157S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235012	NM_001042545.2(LTBP4):c.283G>A (p.Val95Met)	LTBP4 (V125M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 3233626	NM_001042545.2(LTBP4):c.4162C>T (p.Pro1388Ser)	LTBP4 (P1388S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121464	NM_001042545.2(LTBP4):c.4615C>T (p.Pro1539Ser)	LTBP4 (P1606S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121463	NM_001042545.2(LTBP4):c.4555C>T (p.Pro1519Ser)	LTBP4 (P1519S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121462	NM_001042545.2(LTBP4):c.364C>A (p.Pro122Thr)	LTBP4 (P122T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121461	NM_001042545.2(LTBP4):c.2947G>A (p.Val983Met)	LTBP4 (V983M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121459	NM_001042545.2(LTBP4):c.2818G>T (p.Asp940Tyr)	LTBP4 (D1007Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121458	NM_001042545.2(LTBP4):c.2665C>T (p.Leu889Phe)	LTBP4 (L919F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121456	NM_001042545.2(LTBP4):c.2455G>T (p.Asp819Tyr)	LTBP4 (D819Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121454	NM_001042545.2(LTBP4):c.2099G>A (p.Arg700Gln)	LTBP4 (R730Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121453	NM_001042545.2(LTBP4):c.2072G>A (p.Arg691Gln)	LTBP4 (R691Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121451	NM_001042545.2(LTBP4):c.1055C>T (p.Ser352Leu)	LTBP4 (S419L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121450	NM_001042545.2(LTBP4):c.1031G>A (p.Arg344His)	LTBP4 (R374H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069146	NM_001042545.2(LTBP4):c.113del (p.Pro38fs)	LTBP4 (P38fs)	Deletion (frameshift variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 3064433	NM_001042545.2(LTBP4):c.999dup (p.Val334fs)	LTBP4 (V334fs +2 more)	Duplication (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3053695	NM_001042545.2(LTBP4):c.429C>G (p.Arg143=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3051980	NM_001042545.2(LTBP4):c.2701C>A (p.Arg901=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3047813	NM_001042545.2(LTBP4):c.3200C>G (p.Pro1067Arg)	LTBP4 (P1067R +2 more)	Single nucleotide variant (missense variant)	LTBP4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3047612	NM_001042545.2(LTBP4):c.3549C>T (p.Leu1183=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3045965	NM_001042545.2(LTBP4):c.3844G>T (p.Gly1282Ter)	LTBP4 (G1282* +2 more)	Single nucleotide variant (nonsense)	LTBP4-related disorder	GLikely benign
Select item 3045652	NM_001042545.2(LTBP4):c.1437C>T (p.Ser479=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3042801	NM_003573.2(LTBP4):c.318T>C (p.Arg106=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3038923	NM_003573.2(LTBP4):c.17-1807C>T	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related disorder	GLikely benign
Select item 3036820	NM_001042545.2(LTBP4):c.1427-3dup	LTBP4	Duplication (intron variant)	LTBP4-related disorder	GLikely benign
Select item 3035573	NM_001042544.1(LTBP4):c.114C>A (p.Val38=)	LTBP4	Single nucleotide variant (synonymous variant +1 more)	LTBP4-related disorder	GBenign
Select item 3034540	NM_001042545.2(LTBP4):c.3131A>G (p.Glu1044Gly)	LTBP4 (E1044G +2 more)	Single nucleotide variant (missense variant)	LTBP4-related disorder	GLikely benign
Select item 3032834	NM_001042545.2(LTBP4):c.2673C>T (p.Ser891=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3029788	NM_001042545.2(LTBP4):c.1515C>T (p.Cys505=)	LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related disorder	GLikely benign
Select item 3026340	NM_001042545.2(LTBP4):c.3501G>A (p.Leu1167=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3025884	NM_001042545.2(LTBP4):c.4553C>T (p.Ser1518Phe)	LTBP4 (S1518F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3025078	NM_001042545.2(LTBP4):c.36A>G (p.Leu12=)	LTBP4, LOC130064472	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023908	NM_001042545.2(LTBP4):c.3893G>A (p.Arg1298Gln)	LTBP4 (R1365Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022366	NM_001042545.2(LTBP4):c.2558-19C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019393	NM_001042545.2(LTBP4):c.1776G>A (p.Gly592=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017233	NM_001042545.2(LTBP4):c.1559-10G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017105	NM_001042545.2(LTBP4):c.2100G>T (p.Arg700=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014331	NM_001042545.2(LTBP4):c.3315G>A (p.Arg1105=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011746	NM_001042545.2(LTBP4):c.2812+19G>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011564	NM_001042545.2(LTBP4):c.3985+18G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011527	NM_001042545.2(LTBP4):c.3986-13C>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011078	NM_001042545.2(LTBP4):c.1878T>C (p.Ser626=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005992	NM_001042545.2(LTBP4):c.1647G>C (p.Pro549=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005562	NM_001042545.2(LTBP4):c.2812+17C>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004537	NM_001042545.2(LTBP4):c.2299+16G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004450	NM_001042545.2(LTBP4):c.3159del (p.Asn1053fs)	LTBP4 (N1053fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3003965	NM_001042545.2(LTBP4):c.2140A>G (p.Met714Val)	LTBP4 (M781V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3000763	NM_001042545.2(LTBP4):c.3218-13C>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999866	NM_001042545.2(LTBP4):c.3557-17C>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999158	NM_001042545.2(LTBP4):c.4520-18G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994355	NM_003573.2(LTBP4):c.69A>C (p.Ala23=)	LTBP4 (I67L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2993517	NM_001042545.2(LTBP4):c.1427-10G>A	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989315	NM_001042545.2(LTBP4):c.594G>A (p.Ala198=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988534	NM_001042545.2(LTBP4):c.1365C>T (p.Pro455=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984412	NM_001042545.2(LTBP4):c.4520-18G>T	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984311	NM_001042545.2(LTBP4):c.3298C>A (p.Arg1100=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983930	NM_001042545.2(LTBP4):c.2385C>T (p.Cys795=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983535	NM_001042545.2(LTBP4):c.2681-11T>G	LTBP4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982541	NM_001042545.2(LTBP4):c.351C>G (p.Ser117=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982417	NM_001042545.2(LTBP4):c.1684+2T>A	LOC130064476, LTBP4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2982232	NM_001042545.2(LTBP4):c.653G>A (p.Gly218Asp)	LOC130064475, LTBP4 (G218D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2981791	NM_001042545.2(LTBP4):c.2470C>T (p.His824Tyr)	LTBP4 (H854Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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