4929[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 154597	GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1	ACVR1, ACVR1C +147 more	Copy number loss	See cases	GPathogenic
Select item 154896	GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1	LOC129934943, LOC129934944 +74 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 236378	Single allele	ACVR1C, LOC129934963 +61 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 2651440	NC_000002.12:g.156238340T>C	LINC01876, NR4A2	Single nucleotide variant	not provided	GBenign
Select item 331648	NM_006186.3(NR4A2):c.*1311A>G	NR4A2	Single nucleotide variant	Parkinson disease, late-onset	GUncertain significance
Select item 892745	NM_006186.4(NR4A2):c.*1249A>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 331649	NM_006186.4(NR4A2):c.*1198C>T	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892746	NM_006186.4(NR4A2):c.*1017T>C	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331650	NM_006186.4(NR4A2):c.*933G>A	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 331651	NM_006186.4(NR4A2):c.*822A>C	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331652	NM_006186.4(NR4A2):c.659_661del	NR4A2	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892747	NM_006186.4(NR4A2):c.*599T>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331653	NM_006186.4(NR4A2):c.*400CA[9]	NR4A2	Microsatellite (3 prime UTR variant)	Parkinson Disease, Dominant/Recessive	GBenign
Select item 331654	NM_006186.4(NR4A2):c.*352C>A	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GBenign
Select item 331655	NM_006186.4(NR4A2):c.*331T>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 331656	NM_006186.4(NR4A2):c.*192C>G	NR4A2	Single nucleotide variant (3 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 3064509	NM_006186.4(NR4A2):c.1789C>T (p.Pro597Ser)	NR4A2 (P534S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1712771	NM_006186.4(NR4A2):c.1786_1787del (p.Leu596fs)	NR4A2 (L533fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1303909	NM_006186.4(NR4A2):c.1764T>G (p.Ile588Met)	NR4A2 (I525M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 331657	NM_006186.4(NR4A2):c.1746G>A (p.Val582=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 3367023	NM_006186.4(NR4A2):c.1715G>C (p.Arg572Pro)	NR4A2 (R509P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1330227	NM_006186.4(NR4A2):c.1670G>C (p.Gly557Ala)	NR4A2 (G494A +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GUncertain significance
Select item 331658	NM_006186.4(NR4A2):c.1659C>G (p.Ser553=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893543	NM_006186.4(NR4A2):c.1638G>A (p.Leu546=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GLikely benign
Select item 331659	NM_006186.4(NR4A2):c.1635G>T (p.Gly545=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893544	NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln)	NR4A2 (K467Q +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2580845	NM_006186.4(NR4A2):c.1579C>G (p.Leu527Val)	NR4A2 (L464V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067505	NM_006186.4(NR4A2):c.1577A>G (p.Glu526Gly)	NR4A2 (E463G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339811	NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter)	NR4A2 (E463* +1 more)	Single nucleotide variant (nonsense)	History of neurodevelopmental disorder	Gnot provided
Select item 2429897	NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)	NR4A2 (K459N +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 893837	NM_006186.4(NR4A2):c.1548C>T (p.His516=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 3338024	NM_006186.4(NR4A2):c.1159-81_1540+67del	NR4A2	Deletion (splice acceptor variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3258076	NM_006186.4(NR4A2):c.1511C>T (p.Ser504Phe)	NR4A2 (S441F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 808830	NM_006186.4(NR4A2):c.1494_1497dup (p.Ile500fs)	NR4A2 (I437fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 760597	NM_006186.4(NR4A2):c.1467C>T (p.Phe489=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2573073	NM_006186.4(NR4A2):c.1426G>C (p.Val476Leu)	NR4A2 (V413L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1303592	NM_006186.4(NR4A2):c.1423T>A (p.Cys475Ser)	NR4A2 (C412S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364748	NM_006186.4(NR4A2):c.1410G>C (p.Leu470Phe)	NR4A2 (L407F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429898	NM_006186.4(NR4A2):c.1405del (p.Val469fs)	NR4A2 (V406fs +1 more)	Deletion (frameshift variant)	Developmental disorder	GLikely pathogenic
Select item 3201965	NM_006186.4(NR4A2):c.1362G>A (p.Arg454=)	NR4A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3352413	NM_006186.4(NR4A2):c.1361+1G>A	NR4A2	Single nucleotide variant (splice donor variant)	NR4A2-related disorder	GLikely pathogenic
Select item 2651441	NM_006186.4(NR4A2):c.1287C>T (p.Asp429=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 893838	NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser)	NR4A2 (P362S +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2632378	NM_006186.4(NR4A2):c.1255G>T (p.Gly419Cys)	NR4A2 (G356C +1 more)	Single nucleotide variant (missense variant)	NR4A2-related disorder	GUncertain significance
Select item 2506742	NM_006186.4(NR4A2):c.1235G>T (p.Gly412Val)	NR4A2 (G349V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 893839	NM_006186.4(NR4A2):c.1230G>A (p.Leu410=)	NR4A2	Single nucleotide variant (synonymous variant)	Parkinson disease, late-onset	GUncertain significance
Select item 893840	NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys)	NR4A2 (N390K +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 1311476	NM_006186.4(NR4A2):c.1167del (p.Asn390fs)	NR4A2 (N327fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 893841	NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu)	NR4A2 (Q325L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2581379	NM_006186.4(NR4A2):c.1159-3C>T	NR4A2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 331660	NM_006186.4(NR4A2):c.1158+13C>T	NR4A2	Single nucleotide variant (intron variant)	Parkinson disease, late-onset	GUncertain significance
Select item 1321298	NM_006186.4(NR4A2):c.1157_1158insCCTGGACTAGACCAGCCTGGACTATTCCAG (p.Arg386delinsSerLeuAspTer)	NR4A2	Insertion (nonsense)	Global developmental delay	GLikely pathogenic
Select item 3065339	NM_006186.4(NR4A2):c.1157G>C (p.Arg386Thr)	NR4A2 (R323T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3336538	NM_006186.4(NR4A2):c.1147G>A (p.Asp383Asn)	NR4A2 (D320N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700885	NM_006186.4(NR4A2):c.1144C>G (p.Leu382Val)	NR4A2 (L319V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700519	NM_006186.4(NR4A2):c.1118T>G (p.Val373Gly)	NR4A2 (V310G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753144	NM_006186.4(NR4A2):c.1108A>C (p.Arg370=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201964	NM_006186.4(NR4A2):c.1096A>G (p.Ser366Gly)	NR4A2 (S366G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 758571	NM_006186.4(NR4A2):c.1047G>C (p.Pro349=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253459	NM_006186.4(NR4A2):c.1021C>G (p.Arg341Gly)	NR4A2 (R278G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2298791	NM_006186.4(NR4A2):c.994+3A>G	NR4A2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3066310	NM_006186.4(NR4A2):c.968G>A (p.Cys323Tyr)	NR4A2 (C260Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 946314	NM_006186.4(NR4A2):c.968G>T (p.Cys323Phe)	NR4A2 (C323F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3068080	NM_006186.4(NR4A2):c.960_961delinsGT (p.Phe320_Gln321delinsLeuTer)	NR4A2	Indel (nonsense)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 1693498	NM_006186.4(NR4A2):c.956G>A (p.Arg319Gln)	NR4A2 (R256Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 2498142	NM_006186.4(NR4A2):c.947A>G (p.Gln316Arg)	NR4A2 (Q253R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1700112	NM_006186.4(NR4A2):c.943T>C (p.Cys315Arg)	NR4A2 (C252R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 2691885	NM_006186.4(NR4A2):c.934C>T (p.Arg312Trp)	NR4A2 (R249W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3256745	NM_006186.4(NR4A2):c.920T>G (p.Val307Gly)	NR4A2 (V244G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3068081	NM_006186.4(NR4A2):c.916C>G (p.Pro306Ala)	NR4A2 (P243A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1693496	NM_006186.4(NR4A2):c.914G>A (p.Cys305Tyr)	NR4A2 (C242Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 2434437	NM_006186.4(NR4A2):c.899T>C (p.Leu300Ser)	NR4A2 (L237S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 1685988	NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)	NR4A2 (C236F +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GPathogenic
Select item 3252393	NM_006186.4(NR4A2):c.892G>A (p.Val298Met)	NR4A2 (V235M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296717	NM_006186.4(NR4A2):c.892G>T (p.Val298Leu)	NR4A2 (V235L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930579	NM_006186.4(NR4A2):c.881dup (p.Asn294fs)	NR4A2 (N231fs +1 more)	Duplication (frameshift variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2578337	NM_006186.4(NR4A2):c.863A>C (p.Lys288Thr)	NR4A2 (K225T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2499614	NM_006186.4(NR4A2):c.863A>G (p.Lys288Arg)	NR4A2 (K225R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3220885	NM_006186.4(NR4A2):c.859T>C (p.Phe287Leu)	NR4A2 (F224L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 2582359	NM_006186.4(NR4A2):c.854G>T (p.Gly285Val)	NR4A2 (G222V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 1992352	NM_006186.4(NR4A2):c.854G>A (p.Gly285Asp)	NR4A2 (G222D +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 1693495	NM_006186.4(NR4A2):c.839G>A (p.Cys280Tyr)	NR4A2 (C280Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 871822	NM_006186.4(NR4A2):c.825C>A (p.Tyr275Ter)	NR4A2 (Y212* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2582489	NM_006186.4(NR4A2):c.822C>G (p.His274Gln)	NR4A2 (H211Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 753085	NM_006186.4(NR4A2):c.819A>G (p.Gln273=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582129	NM_006186.4(NR4A2):c.798T>G (p.Cys266Trp)	NR4A2 (C203W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377115	NM_006186.4(NR4A2):c.755C>A (p.Pro252Gln)	NR4A2 (P252Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 331661	NM_006186.4(NR4A2):c.732C>A (p.Leu244=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2651442	NM_006186.4(NR4A2):c.717C>T (p.His239=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631914	NM_006186.4(NR4A2):c.709_711del (p.Ile237del)	NR4A2 (I174del +1 more)	Deletion (inframe_deletion)	NR4A2-related disorder	GUncertain significance
Select item 1710386	NM_006186.4(NR4A2):c.698del (p.Pro233fs)	NR4A2 (P170fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3201968	NM_006186.4(NR4A2):c.691G>A (p.Gly231Ser)	NR4A2 (G231S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201967	NM_006186.4(NR4A2):c.680C>T (p.Pro227Leu)	NR4A2 (P227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204730	NM_006186.4(NR4A2):c.665A>G (p.Asn222Ser)	NR4A2 (N159S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 331662	NM_006186.4(NR4A2):c.657T>C (p.Ala219=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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