60[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	ABCB5, ACTB +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	ABCB5, ACTB +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	ACTB, ADAP1 +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	ABCB5, ACTB +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC126859939, LOC126859940 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC129389762, LOC129389763 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	LOC110120786, LOC110120961 +769 more	Copy number gain	See cases	GPathogenic
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	ACTB, AIMP2 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 150143	GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4	ACTB, FBXL18 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 58511	GRCh38/hg38 7p22.1(chr7:5497215-5531287)x1	ACTB, FBXL18 +10 more	Copy number loss	See cases	GPathogenic
Select item 1218686	NM_001101.5(ACTB):c.*280G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1260131	NM_001101.5(ACTB):c.*267G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1185839	NM_001101.5(ACTB):c.*260G>A	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249295	NM_001101.5(ACTB):c.*125G>T	ACTB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245930	NM_001101.5(ACTB):c.*124dup	ACTB	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1272390	NM_001101.5(ACTB):c.*124del	ACTB	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1213113	NM_001101.5(ACTB):c.*96dup	ACTB	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 987424	NM_001101.5(ACTB):c.930_*52del (p.Asp311fs)	ACTB (D311fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1706977	NM_001101.5(ACTB):c.1125C>T (p.Phe375=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1555653	NM_001101.5(ACTB):c.1122C>T (p.Cys374=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2580466	NM_001101.5(ACTB):c.1121G>A (p.Cys374Tyr)	ACTB (C374Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3725801	NM_001101.5(ACTB):c.1119A>G (p.Lys373=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 495295	NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter)	ACTB (K373*)	Single nucleotide variant (nonsense)	Baraitser-Winter syndrome 1	GPathogenic
Select item 2657286	NM_001101.5(ACTB):c.1116C>T (p.Arg372=)	ACTB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919118	NM_001101.5(ACTB):c.1115G>A (p.Arg372His)	ACTB (R372H)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3773846	NM_001101.5(ACTB):c.1112A>G (p.His371Arg)	ACTB (H371R)	Single nucleotide variant (missense variant)	ACTB-related disorder	GLikely pathogenic
Select item 2438838	NM_001101.5(ACTB):c.1111C>T (p.His371Tyr)	ACTB (H371Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842305	NM_001101.5(ACTB):c.1109T>G (p.Val370Gly)	ACTB (V370G)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 516170	NM_001101.5(ACTB):c.1107C>T (p.Ile369=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign/Likely benign
Select item 373015	NM_001101.5(ACTB):c.1092_1105dup (p.Ile369fs)	ACTB (I369fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2577407	NM_001101.5(ACTB):c.1101dup (p.Ser368fs)	ACTB (S368fs)	Duplication (frameshift variant)	ACTB-associated syndromic thrombocytopenia	GPathogenic
Select item 1939090	NM_001101.5(ACTB):c.1101C>G (p.Pro367=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 495294	NM_001101.5(ACTB):c.1097dup (p.Ser368fs)	ACTB (S368fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 707530	NM_001101.5(ACTB):c.1095C>T (p.Ser365=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3013715	NM_001101.5(ACTB):c.1094C>G (p.Ser365Cys)	ACTB (S365C)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 218132	NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys)	ACTB (E364K)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 516169	NM_001101.5(ACTB):c.1089C>T (p.Asp363=)	ACTB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2443462	NM_001101.5(ACTB):c.1085A>G (p.Tyr362Cys)	ACTB (Y362C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679831	NM_001101.5(ACTB):c.1063_1082del (p.Met355fs)	ACTB (M355fs)	Deletion (frameshift variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 591451	NM_001101.5(ACTB):c.1081G>A (p.Glu361Lys)	ACTB (E361K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627812	NM_001101.5(ACTB):c.1078_1079dup (p.Gln360fs)	ACTB (Q360fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 561721	NM_001101.5(ACTB):c.1078dup (p.Gln360fs)	ACTB (Q360fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1805665	NM_001101.5(ACTB):c.1077_1078delinsTT (p.Lys359_Gln360delinsAsnTer)	ACTB	Indel (nonsense)	Developmental malformations-deafness-dystonia syndrome	GLikely pathogenic
Select item 2078369	NM_001101.5(ACTB):c.1074C>T (p.Ser358=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1177327	NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg)	ACTB (W356R)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1078155	NM_001101.5(ACTB):c.1059G>A (p.Gln353=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2442085	NM_001101.5(ACTB):c.1058A>C (p.Gln353Pro)	ACTB (Q353P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2139009	NM_001101.5(ACTB):c.1056C>T (p.Phe352=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1157195	NM_001101.5(ACTB):c.1053C>T (p.Thr351=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2165699	NM_001101.5(ACTB):c.1047G>A (p.Leu349=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1200439	NM_001101.5(ACTB):c.1045C>G (p.Leu349Val)	ACTB (L349V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 381956	NM_001101.5(ACTB):c.1044G>A (p.Ser348=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +2 more	GBenign
Select item 279997	NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)	ACTB (S348L)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 3647033	NM_001101.5(ACTB):c.1041C>G (p.Ala347=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1167827	NM_001101.5(ACTB):c.1041C>T (p.Ala347=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GBenign
Select item 3640746	NM_001101.5(ACTB):c.1036C>T (p.Leu346=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 393092	NM_001101.5(ACTB):c.1028G>A (p.Gly343Asp)	ACTB (G343D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083765	NM_001101.5(ACTB):c.1026C>T (p.Gly342=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2577406	NM_001101.5(ACTB):c.1012_1023del (p.Ser338_Ile341del)	ACTB	Deletion (inframe_indel +1 more)	ACTB-associated syndromic thrombocytopenia	GPathogenic
Select item 128263	NM_001101.5(ACTB):c.1023C>T (p.Ile341=)	ACTB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 985391	NM_001101.5(ACTB):c.1021A>G (p.Ile341Val)	ACTB (I341V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 279990	NM_001101.5(ACTB):c.1021A>C (p.Ile341Leu)	ACTB (I341L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372965	NM_001101.5(ACTB):c.1020G>C (p.Trp340Cys)	ACTB (W340C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 280619	NM_001101.5(ACTB):c.1020G>T (p.Trp340Cys)	ACTB (W340C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 697397	NM_001101.5(ACTB):c.1017G>C (p.Val339=)	ACTB	Single nucleotide variant (synonymous variant)	Developmental malformations-deafness-dystonia syndrome +2 more	GBenign
Select item 1107606	NM_001101.5(ACTB):c.1014C>T (p.Ser338=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 438273	NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe)	ACTB (S338F)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GLikely pathogenic
Select item 3028959	NM_001101.5(ACTB):c.1010dup (p.Tyr337Ter)	ACTB (Y337*)	Duplication (nonsense +1 more)	ACTB-related disorder	GLikely pathogenic
Select item 534592	NM_001101.5(ACTB):c.1011C>T (p.Tyr337=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1 +1 more	GLikely benign
Select item 2577405	NM_001101.5(ACTB):c.992_1008del (p.Ala331fs)	ACTB (A331fs)	Deletion (frameshift variant)	ACTB-associated syndromic thrombocytopenia	GPathogenic
Select item 3369117	NM_001101.5(ACTB):c.1004G>A (p.Arg335His)	ACTB (R335H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1044904	NM_001101.5(ACTB):c.1004G>C (p.Arg335Pro)	ACTB (R335P)	Single nucleotide variant (missense variant)	Baraitser-Winter syndrome 1	GUncertain significance
Select item 871389	NM_001101.5(ACTB):c.1003C>T (p.Arg335Cys)	ACTB (R335C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2875503	NM_001101.5(ACTB):c.996T>G (p.Pro332=)	ACTB	Single nucleotide variant (synonymous variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1800651	NM_001101.5(ACTB):c.985-43_993dup	ACTB	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 985755	NM_001101.5(ACTB):c.987_990dup (p.Ala331fs)	ACTB (A331fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1127802	NM_001101.5(ACTB):c.985-5_985-3del	ACTB	Microsatellite (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 383008	NM_001101.5(ACTB):c.985-6C>T	ACTB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1396478	NM_001101.5(ACTB):c.985-7T>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2046943	NM_001101.5(ACTB):c.985-8C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 1573918	NM_001101.5(ACTB):c.985-9C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GBenign
Select item 1636309	NM_001101.5(ACTB):c.985-10C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2916387	NM_001101.5(ACTB):c.985-13C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2072212	NM_001101.5(ACTB):c.985-15C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3615864	NM_001101.5(ACTB):c.985-17_985-16delinsAT	ACTB	Indel (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 2180465	NM_001101.5(ACTB):c.985-16C>T	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign
Select item 3653466	NM_001101.5(ACTB):c.985-18G>A	ACTB	Single nucleotide variant (intron variant)	Baraitser-Winter syndrome 1	GLikely benign

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