1130[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 296318	NM_000081.4(LYST):c.*1861C>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296319	NM_000081.4(LYST):c.*1831A>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 296320	NM_000081.4(LYST):c.*1792A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 873712	NM_000081.4(LYST):c.*1723A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 873713	NM_000081.4(LYST):c.*1533G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 873714	NM_000081.4(LYST):c.*1499G>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 296321	NM_000081.4(LYST):c.*1438C>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296322	NM_000081.4(LYST):c.*1428T>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296323	NM_000081.4(LYST):c.*1379G>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296324	NM_000081.4(LYST):c.*1356G>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296325	NM_000081.4(LYST):c.*1295T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 296326	NM_000081.4(LYST):c.*1275T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 296327	NM_000081.4(LYST):c.*1211G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 874685	NM_000081.4(LYST):c.*962G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 874686	NM_000081.4(LYST):c.*921C>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296328	NM_000081.4(LYST):c.*907G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296329	NM_000081.4(LYST):c.*891G>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 296330	NM_000081.4(LYST):c.*873G>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296331	NM_000081.4(LYST):c.*831A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296332	NM_000081.4(LYST):c.*824A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 875628	NM_000081.4(LYST):c.*809A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296333	NM_000081.4(LYST):c.*725G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 875629	NM_000081.4(LYST):c.*712T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296334	NM_000081.4(LYST):c.*694T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296335	NM_000081.4(LYST):c.*685G>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 296336	NM_000081.4(LYST):c.*519C>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296337	NM_000081.4(LYST):c.*446T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GBenign
Select item 296338	NM_000081.4(LYST):c.*329A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 876628	NM_000081.4(LYST):c.*319C>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 876629	NM_000081.4(LYST):c.*275A>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296339	NM_000081.4(LYST):c.*247G>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 873775	NM_000081.4(LYST):c.*246C>T	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296340	NM_000081.4(LYST):c.*191T>C	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296341	NM_000081.4(LYST):c.*94A>G	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296342	NM_000081.4(LYST):c.*5G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2126782	NM_000081.4(LYST):c.11403G>A (p.Gly3801=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 525177	NM_000081.4(LYST):c.11401G>C (p.Gly3801Arg)	LYST (G3801R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1656848	NM_000081.4(LYST):c.11400C>T (p.Ala3800=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 968096	NM_000081.4(LYST):c.11393A>G (p.Tyr3798Cys)	LYST (Y3798C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2137839	NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)	LYST (Y3798H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2984169	NM_000081.4(LYST):c.11391C>T (p.Ser3797=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 706164	NM_000081.4(LYST):c.11382C>T (p.Phe3794=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 1045854	NM_000081.4(LYST):c.11375A>G (p.Tyr3792Cys)	LYST (Y3792C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1046121	NM_000081.4(LYST):c.11368A>G (p.Met3790Val)	LYST (M3790V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 595196	NM_000081.4(LYST):c.11362C>T (p.Gln3788Ter)	LYST (Q3788*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2829723	NM_000081.4(LYST):c.11358G>A (p.Leu3786=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1644773	NM_000081.4(LYST):c.11355C>G (p.Arg3785=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 451194	NM_000081.4(LYST):c.11354G>A (p.Arg3785His)	LYST (R3785H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2706688	NM_000081.4(LYST):c.11349G>A (p.Gln3783=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2806653	NM_000081.4(LYST):c.11346C>T (p.Asp3782=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2704022	NM_000081.4(LYST):c.11346C>A (p.Asp3782Glu)	LYST (D3782E)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2188609	NM_000081.4(LYST):c.11339G>A (p.Arg3780Gln)	LYST (R3780Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2838220	NM_000081.4(LYST):c.11325G>A (p.Val3775=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 856610	NM_000081.4(LYST):c.11323G>A (p.Val3775Met)	LYST (V3775M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1420602	NM_000081.4(LYST):c.11322C>T (p.Thr3774=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1988461	NM_000081.4(LYST):c.11320A>T (p.Thr3774Ser)	LYST (T3774S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1985607	NM_000081.4(LYST):c.11312G>A (p.Ser3771Asn)	LYST (S3771N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1902693	NM_000081.4(LYST):c.11310C>T (p.Asn3770=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2108479	NM_000081.4(LYST):c.11308A>G (p.Asn3770Asp)	LYST (N3770D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1026495	NM_000081.4(LYST):c.11306C>T (p.Ala3769Val)	LYST (A3769V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1418793	NM_000081.4(LYST):c.11303C>T (p.Thr3768Ile)	LYST (T3768I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1923632	NM_000081.4(LYST):c.11301C>T (p.Tyr3767=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 836271	NM_000081.4(LYST):c.11300A>T (p.Tyr3767Phe)	LYST (Y3767F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2756078	NM_000081.4(LYST):c.11289C>G (p.Gly3763=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1582959	NM_000081.4(LYST):c.11289C>T (p.Gly3763=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2539693	NM_000081.4(LYST):c.11282G>A (p.Cys3761Tyr)	LYST (C3761Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 570750	NM_000081.4(LYST):c.11278T>C (p.Ser3760Pro)	LYST (S3760P)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2805926	NM_000081.4(LYST):c.11274A>T (p.Thr3758=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1379183	NM_000081.4(LYST):c.11268C>G (p.Ser3756Arg)	LYST (S3756R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296343	NM_000081.4(LYST):c.11268-17dup	LYST	Duplication (intron variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 403065	NM_000081.4(LYST):c.11268-5del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome +3 more	GBenign/Likely benign
Select item 296344	NM_000081.4(LYST):c.11268-6_11268-5del	LYST	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2848809	NM_000081.4(LYST):c.11268-9T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2858010	NM_000081.4(LYST):c.11268-11T>A	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2697183	NM_000081.4(LYST):c.11268-13T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2730331	NM_000081.4(LYST):c.11268-15T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2913537	NM_000081.4(LYST):c.11268-17T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1668587	NM_000081.4(LYST):c.11268-17T>A	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3004827	NM_000081.4(LYST):c.11268-18A>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2905345	NM_000081.4(LYST):c.11268-18del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1283354	NM_000081.4(LYST):c.11268-205C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2857734	NM_000081.4(LYST):c.11267+20T>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign

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