649[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 1257685	NC_000011.10:g.118572359dup	ARCN1, IFT46	Duplication	not provided	GBenign
Select item 1229114	NC_000011.10:g.118572348G>C	ARCN1, IFT46	Single nucleotide variant	not provided	GBenign
Select item 1273616	NC_000011.10:g.118572359del	ARCN1, IFT46	Deletion	not provided	GBenign
Select item 3339875	NM_001655.5(ARCN1):c.-3A>G	ARCN1, IFT46	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 718664	NM_001655.5(ARCN1):c.3+8C>T	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1965357	NM_001655.5(ARCN1):c.3+9C>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110616	NM_001655.5(ARCN1):c.3+16G>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262467	NM_001655.5(ARCN1):c.4-60T>C	ARCN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2018168	NM_001655.5(ARCN1):c.4-11G>A	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928338	NM_001655.5(ARCN1):c.4-8C>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566214	NM_001655.5(ARCN1):c.4-8C>T	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718665	NM_001655.5(ARCN1):c.16G>T (p.Ala6Ser)	ARCN1 (A6S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2987299	NM_001655.5(ARCN1):c.21G>T (p.Ala7=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577372	NM_001655.5(ARCN1):c.21G>A (p.Ala7=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2122823	NM_001655.5(ARCN1):c.26G>A (p.Cys9Tyr)	ARCN1 (C9Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987964	NM_001655.5(ARCN1):c.46A>G (p.Ile16Val)	ARCN1 (I16V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3309902	NM_001655.5(ARCN1):c.56G>A (p.Arg19Gln)	ARCN1 (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2783725	NM_001655.5(ARCN1):c.73A>G (p.Thr25Ala)	ARCN1 (T2A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2229622	NM_001655.5(ARCN1):c.76C>T (p.Arg26Ter)	ARCN1 (R26*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3128300	NM_001655.5(ARCN1):c.83G>A (p.Arg28Gln)	ARCN1 (R28Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1591688	NM_001655.5(ARCN1):c.114G>A (p.Lys38=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2309868	NM_001655.5(ARCN1):c.136C>A (p.His46Asn)	ARCN1 (H46N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2015704	NM_001655.5(ARCN1):c.140C>T (p.Thr47Met)	ARCN1 (T47M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 267208	NM_001655.5(ARCN1):c.157_158del (p.Ser53fs)	ARCN1 (S53fs)	Microsatellite (frameshift variant +1 more)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 2555559	NM_001655.5(ARCN1):c.155A>G (p.Glu52Gly)	ARCN1 (E52G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1988767	NM_001655.5(ARCN1):c.163A>C (p.Arg55=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1946122	NM_001655.5(ARCN1):c.168T>C (p.Tyr56=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943761	NM_001655.5(ARCN1):c.181A>G (p.Met61Val)	ARCN1 (M61V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842922	NM_001655.5(ARCN1):c.195T>C (p.Tyr65=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1320069	NM_001655.5(ARCN1):c.231AGA[1] (p.Glu78del)	ARCN1 (E78del)	Microsatellite (inframe_deletion +1 more)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GLikely pathogenic
Select item 1643341	NM_001655.5(ARCN1):c.247C>T (p.Leu83=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983682	NM_001655.5(ARCN1):c.255C>T (p.Leu85=)	ARCN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 267209	NM_001655.5(ARCN1):c.260C>A (p.Ser87Ter)	ARCN1 (S87*)	Single nucleotide variant (nonsense +1 more)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 2816306	NM_001655.5(ARCN1):c.265G>C (p.Val89Leu)	ARCN1 (V70L +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1928304	NM_001655.5(ARCN1):c.267+6A>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1657886	NM_001655.5(ARCN1):c.267+10C>T	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231719	NM_001655.5(ARCN1):c.267+110G>C	ARCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225737	NM_001655.5(ARCN1):c.268-213A>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776850	NM_001655.5(ARCN1):c.268-8A>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187297	NM_001655.5(ARCN1):c.268-7C>T	ARCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714500	NM_001655.5(ARCN1):c.268-6G>A	ARCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2805355	NM_001655.5(ARCN1):c.268-3T>C	ARCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 739934	NM_001655.5(ARCN1):c.279T>C (p.Tyr93=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055854	NM_001655.5(ARCN1):c.284G>A (p.Arg95Gln)	ARCN1 (R95Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000601	NM_001655.5(ARCN1):c.299A>G (p.Asn100Ser)	ARCN1 (N100S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419384	NM_001655.5(ARCN1):c.304A>G (p.Ile102Val)	ARCN1 (I14V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988212	NM_001655.5(ARCN1):c.312G>A (p.Glu104=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251848	NM_001655.5(ARCN1):c.319T>C (p.Phe107Leu)	ARCN1 (F107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1588109	NM_001655.5(ARCN1):c.351C>T (p.Val117=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913369	NM_001655.5(ARCN1):c.352G>A (p.Ala118Thr)	ARCN1 (A30T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108084	NM_001655.5(ARCN1):c.365G>A (p.Arg122Gln)	ARCN1 (R34Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704215	NM_001655.5(ARCN1):c.380dup (p.Leu127fs)	ARCN1 (L127fs +1 more)	Duplication (frameshift variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 2860610	NM_001655.5(ARCN1):c.384A>G (p.Ala128=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068968	NM_001655.5(ARCN1):c.387G>A (p.Gln129=)	ARCN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2712810	NM_001655.5(ARCN1):c.405A>G (p.Glu135=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068967	NM_001655.5(ARCN1):c.406A>G (p.Met136Val)	ARCN1 (M113V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2009400	NM_001655.5(ARCN1):c.414T>G (p.Ser138=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663717	NM_001655.5(ARCN1):c.421G>C (p.Glu141Gln)	ARCN1 (E118Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577358	NM_001655.5(ARCN1):c.428T>G (p.Val143Gly)	ARCN1 (V143G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698729	NM_001655.5(ARCN1):c.431dup (p.Arg145fs)	ARCN1 (R145fs +1 more)	Duplication (frameshift variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 751729	NM_001655.5(ARCN1):c.438C>T (p.Ala146=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1475563	NM_001655.5(ARCN1):c.439G>A (p.Val147Ile)	ARCN1 (V59I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805111	NM_001655.5(ARCN1):c.440T>C (p.Val147Ala)	ARCN1 (V147A +1 more)	Single nucleotide variant (missense variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GUncertain significance
Select item 1996756	NM_001655.5(ARCN1):c.441C>T (p.Val147=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1230118	NM_001655.5(ARCN1):c.447+104A>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2695584	NM_001655.5(ARCN1):c.448-20A>G	ARCN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1504214	NM_001655.5(ARCN1):c.458G>A (p.Arg153His)	ARCN1 (R153H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381949	NM_001655.5(ARCN1):c.472G>C (p.Glu158Gln)	ARCN1 (E70Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188874	NM_001655.5(ARCN1):c.478C>T (p.Arg160Cys)	ARCN1 (R72C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990454	NM_001655.5(ARCN1):c.479G>A (p.Arg160His)	ARCN1 (R72H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3309892	NM_001655.5(ARCN1):c.482G>A (p.Arg161His)	ARCN1 (R73H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1698855	NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter)	ARCN1 (R170* +1 more)	Single nucleotide variant (nonsense)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 1415231	NM_001655.5(ARCN1):c.518C>G (p.Ala173Gly)	ARCN1 (A173G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687551	NM_001655.5(ARCN1):c.522_525del (p.Glu174fs)	ARCN1 (E174fs +1 more)	Microsatellite (frameshift variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GLikely pathogenic
Select item 2979771	NM_001655.5(ARCN1):c.538G>A (p.Ala180Thr)	ARCN1 (A179T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317523	NM_001655.5(ARCN1):c.541C>A (p.Pro181Thr)	ARCN1 (P93T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2898502	NM_001655.5(ARCN1):c.543A>C (p.Pro181=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592037	NM_001655.5(ARCN1):c.552C>T (p.Gly184=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454993	NM_001655.5(ARCN1):c.553G>T (p.Gly185Ter)	ARCN1 (G185* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1422623	NM_001655.5(ARCN1):c.553G>A (p.Gly185Arg)	ARCN1 (G185R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237533	NM_001655.5(ARCN1):c.593C>A (p.Ala198Asp)	ARCN1 (A110D +5 more)	Single nucleotide variant (missense variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GUncertain significance
Select item 1478010	NM_001655.5(ARCN1):c.595A>G (p.Met199Val)	ARCN1 (M111V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449727	NM_001655.5(ARCN1):c.597G>T (p.Met199Ile)	ARCN1 (M111I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499364	NM_001655.5(ARCN1):c.605A>C (p.Glu202Ala)	ARCN1 (E202A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047342	NM_001655.5(ARCN1):c.609C>T (p.Thr203=)	ARCN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378776	NM_001655.5(ARCN1):c.613A>C (p.Ile205Leu)	ARCN1 (I205L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 267210	NM_001655.5(ARCN1):c.633del (p.Val212fs)	ARCN1 (V124fs +1 more)	Deletion (frameshift variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GPathogenic
Select item 1390683	NM_001655.5(ARCN1):c.644C>T (p.Ala215Val)	ARCN1 (A127V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556581	NM_001655.5(ARCN1):c.646C>T (p.Pro216Ser)	ARCN1 (P128S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629888	NM_001655.5(ARCN1):c.649G>C (p.Ala217Pro)	ARCN1 (A129P +5 more)	Single nucleotide variant (missense variant)	ARCN1-related disorder	GUncertain significance
Select item 1923459	NM_001655.5(ARCN1):c.653+4T>C	ARCN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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