450[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 304608	NM_021926.4(ALX4):c.*4105C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880045	NM_021926.4(ALX4):c.*4094T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304609	NM_021926.4(ALX4):c.*3999C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304610	NM_021926.4(ALX4):c.*3988T>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877250	NM_021926.4(ALX4):c.*3949C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304611	NM_021926.4(ALX4):c.*3825G>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304612	NM_021926.4(ALX4):c.*3805G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 877251	NM_021926.4(ALX4):c.*3773A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877252	NM_021926.4(ALX4):c.*3769T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304613	NM_021926.4(ALX4):c.3755_3760del	ALX4	Deletion (3 prime UTR variant)	Cranium bifidum occultum	GUncertain significance
Select item 877253	NM_021926.4(ALX4):c.*3626T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304614	NM_021926.4(ALX4):c.*3596C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304615	NM_021926.4(ALX4):c.*3577C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878296	NM_021926.4(ALX4):c.*3553T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304616	NM_021926.4(ALX4):c.*3506T>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878297	NM_021926.4(ALX4):c.*3405G>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304617	NM_021926.4(ALX4):c.*3405G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304618	NM_021926.4(ALX4):c.*3382G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304619	NM_021926.4(ALX4):c.*3381C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878298	NM_021926.4(ALX4):c.*3259G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304620	NM_021926.4(ALX4):c.*3241C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878884	NM_021926.4(ALX4):c.*3220G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304621	NM_021926.4(ALX4):c.*3166C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878885	NM_021926.4(ALX4):c.*3134G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878886	NM_021926.4(ALX4):c.*3123G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304622	NM_021926.4(ALX4):c.*3112C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304623	NM_021926.4(ALX4):c.*3107A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304624	NM_021926.4(ALX4):c.*3081C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880109	NM_021926.4(ALX4):c.*3033G>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304625	NM_021926.4(ALX4):c.*3033G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304626	NM_021926.4(ALX4):c.*3016G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304627	NM_021926.4(ALX4):c.*3012C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304628	NM_021926.4(ALX4):c.*2991G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2 +1 more	GUncertain significance
Select item 880110	NM_021926.4(ALX4):c.*2939C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304629	NM_021926.4(ALX4):c.*2883C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877312	NM_021926.4(ALX4):c.*2861C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 877313	NM_021926.4(ALX4):c.*2845G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304630	NM_021926.4(ALX4):c.*2835A>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304631	NM_021926.4(ALX4):c.*2832A>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304632	NM_021926.4(ALX4):c.*2828C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877314	NM_021926.4(ALX4):c.*2750G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304633	NM_021926.4(ALX4):c.*2682C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304634	NM_021926.4(ALX4):c.*2673T>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304635	NM_021926.4(ALX4):c.*2668T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304636	NM_021926.4(ALX4):c.*2507G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304637	NM_021926.4(ALX4):c.*2489C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304638	NM_021926.4(ALX4):c.*2479T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304639	NM_021926.4(ALX4):c.*2478T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304640	NM_021926.4(ALX4):c.*2469T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878341	NM_021926.4(ALX4):c.*2463T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304641	NM_021926.4(ALX4):c.*2431C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878931	NM_021926.4(ALX4):c.*2349C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GLikely benign
Select item 304642	NM_021926.4(ALX4):c.*2244G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304643	NM_021926.4(ALX4):c.*2226G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878932	NM_021926.4(ALX4):c.*2208C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 878933	NM_021926.4(ALX4):c.*2181A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304644	NM_021926.4(ALX4):c.*2110A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304645	NM_021926.4(ALX4):c.*2071C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304646	NM_021926.4(ALX4):c.*2030G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304647	NM_021926.4(ALX4):c.*1913G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304648	NM_021926.4(ALX4):c.*1901A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304649	NM_021926.4(ALX4):c.*1896A>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304650	NM_021926.4(ALX4):c.*1713G>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304651	NM_021926.4(ALX4):c.*1710T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304652	NM_021926.4(ALX4):c.*1699G>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 880154	NM_021926.4(ALX4):c.*1629C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 877366	NM_021926.4(ALX4):c.*1627T>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877367	NM_021926.4(ALX4):c.*1599C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 877368	NM_021926.4(ALX4):c.*1590G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304653	NM_021926.4(ALX4):c.*1532G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304654	NM_021926.4(ALX4):c.*1470C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304655	NM_021926.4(ALX4):c.*1466G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304656	NM_021926.4(ALX4):c.*1463C>G	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304657	NM_021926.4(ALX4):c.*1447G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304658	NM_021926.4(ALX4):c.*1444G>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304659	NM_021926.4(ALX4):c.*1408G>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304660	NM_021926.4(ALX4):c.*1365C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304661	NM_021926.4(ALX4):c.*1356T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304662	NM_021926.4(ALX4):c.*1346del	ALX4	Deletion (3 prime UTR variant)	Cranium bifidum occultum	GUncertain significance
Select item 304663	NM_021926.4(ALX4):c.*1345G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304664	NM_021926.4(ALX4):c.*1227G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304665	NM_021926.4(ALX4):c.*1157C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304666	NM_021926.4(ALX4):c.*1135C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304667	NM_021926.4(ALX4):c.*1131T>C	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878983	NM_021926.4(ALX4):c.*1122G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304668	NM_021926.4(ALX4):c.*1121C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 304669	NM_021926.4(ALX4):c.*1088G>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878984	NM_021926.4(ALX4):c.*1076C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304670	NM_021926.4(ALX4):c.*1048C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GBenign
Select item 878985	NM_021926.4(ALX4):c.*1025C>T	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance
Select item 304671	NM_021926.4(ALX4):c.*1003C>A	ALX4	Single nucleotide variant (3 prime UTR variant)	Parietal foramina 2	GUncertain significance

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