SEC63[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 369511	NM_007214.4(SEC63):c.*3959dupT	SEC63	Duplication	Polycystic liver disease 1	GBenign
Select item 354806	NM_007214.5(SEC63):c.*3948A>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354807	NM_007214.5(SEC63):c.*3895T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904008	NM_007214.5(SEC63):c.*3819A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354808	NM_007214.5(SEC63):c.*3800A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354809	NM_007214.5(SEC63):c.*3772G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354810	NM_007214.5(SEC63):c.*3705T>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354811	NM_007214.5(SEC63):c.*3704C>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354812	NM_007214.5(SEC63):c.*3580G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354813	NM_007214.5(SEC63):c.3574_3575insGAC	SEC63	Insertion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354814	NM_007214.5(SEC63):c.*3510T>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354815	NM_007214.5(SEC63):c.*3502C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354816	NM_007214.5(SEC63):c.*3501A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354817	NM_007214.5(SEC63):c.*3499A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354818	NM_007214.5(SEC63):c.*3498C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354819	NM_007214.5(SEC63):c.*3497A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 905882	NM_007214.5(SEC63):c.*3489A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354820	NM_007214.5(SEC63):c.*3480dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354821	NM_007214.5(SEC63):c.*3480del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354822	NM_007214.5(SEC63):c.*3469T>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GLikely benign
Select item 905883	NM_007214.5(SEC63):c.*3456T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354823	NM_007214.5(SEC63):c.*3434A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354824	NM_007214.5(SEC63):c.*3432dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354825	NM_007214.5(SEC63):c.*3431A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 906399	NM_007214.5(SEC63):c.*3430A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354826	NM_007214.5(SEC63):c.*3393C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 906400	NM_007214.5(SEC63):c.*3390G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354827	NM_007214.5(SEC63):c.*3334C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354828	NM_007214.5(SEC63):c.*3210C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354829	NM_007214.5(SEC63):c.*3171G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354830	NM_007214.5(SEC63):c.*3170C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 907404	NM_007214.5(SEC63):c.*3133C>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354831	NM_007214.5(SEC63):c.*3128G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354832	NM_007214.5(SEC63):c.*3127C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 907405	NM_007214.5(SEC63):c.*3116T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354833	NM_007214.5(SEC63):c.*3107T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904070	NM_007214.5(SEC63):c.*3032A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354834	NM_007214.5(SEC63):c.*3031dup	SEC63	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 354835	NM_007214.5(SEC63):c.*3031del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 904071	NM_007214.5(SEC63):c.*2946C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354836	NM_007214.5(SEC63):c.*2886A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354837	NM_007214.5(SEC63):c.*2876T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354838	NM_007214.5(SEC63):c.*2862A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354839	NM_007214.5(SEC63):c.*2833A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354840	NM_007214.5(SEC63):c.*2811C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904072	NM_007214.5(SEC63):c.*2791T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904848	NM_007214.5(SEC63):c.*2783G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354841	NM_007214.5(SEC63):c.*2705T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904849	NM_007214.5(SEC63):c.*2704A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354842	NM_007214.5(SEC63):c.*2662G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354843	NM_007214.5(SEC63):c.*2624T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904850	NM_007214.5(SEC63):c.*2618C>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354844	NM_007214.5(SEC63):c.*2607G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354845	NM_007214.5(SEC63):c.*2522G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354846	NM_007214.5(SEC63):c.*2504dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354847	NM_007214.5(SEC63):c.*2479dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GLikely benign
Select item 906465	NM_007214.5(SEC63):c.*2465C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354848	NM_007214.5(SEC63):c.*2456G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 906466	NM_007214.5(SEC63):c.*2379G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354849	NM_007214.5(SEC63):c.*2376A>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 906467	NM_007214.5(SEC63):c.*2301A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 906468	NM_007214.5(SEC63):c.*2287G>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354850	NM_007214.5(SEC63):c.*2223G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 907455	NM_007214.5(SEC63):c.*2131C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354851	NM_007214.5(SEC63):c.*2086G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354852	NM_007214.5(SEC63):c.*2046C>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 907456	NM_007214.5(SEC63):c.*2041A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354853	NM_007214.5(SEC63):c.*1941C>T	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354854	NM_007214.5(SEC63):c.1932_1937del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354855	NM_007214.5(SEC63):c.*1936del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GLikely benign
Select item 354856	NM_007214.5(SEC63):c.1932_1933insA	SEC63	Insertion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354858	NM_007214.5(SEC63):c.*1931dup	SEC63	Duplication (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354857	NM_007214.5(SEC63):c.1927_1932del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 907457	NM_007214.5(SEC63):c.*1931A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354859	NM_007214.5(SEC63):c.1926_1931del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354860	NM_007214.5(SEC63):c.1920_1921insC	SEC63	Insertion (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 354861	NM_007214.5(SEC63):c.*1901A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 354862	NM_007214.5(SEC63):c.*1839C>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904137	NM_007214.5(SEC63):c.*1832A>G	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354863	NM_007214.5(SEC63):c.1790_1793del	SEC63	Deletion (3 prime UTR variant)	Polycystic liver disease 1	GBenign
Select item 354864	NM_007214.5(SEC63):c.*1787GTT[1]	SEC63	Microsatellite (3 prime UTR variant)	Polycystic liver disease 1	GUncertain significance
Select item 904138	NM_007214.5(SEC63):c.*1760T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904139	NM_007214.5(SEC63):c.*1725G>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354865	NM_007214.5(SEC63):c.*1705G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904140	NM_007214.5(SEC63):c.*1696G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354866	NM_007214.5(SEC63):c.*1685A>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904914	NM_007214.5(SEC63):c.*1655G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 904915	NM_007214.5(SEC63):c.*1650G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354867	NM_007214.5(SEC63):c.*1612T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign
Select item 904916	NM_007214.5(SEC63):c.*1568G>A	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GUncertain significance
Select item 354868	NM_007214.5(SEC63):c.*1526T>C	SEC63	Single nucleotide variant (3 prime UTR variant)	Polycystic liver disease 2	GBenign

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