2673[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 898898	NM_001244710.2(GFPT1):c.*6378G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336780	NM_001244710.2(GFPT1):c.*6366T>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 336781	NM_001244710.2(GFPT1):c.*6284G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 895935	NM_001244710.2(GFPT1):c.*6136C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336782	NM_001244710.2(GFPT1):c.*6126A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 895936	NM_001244710.2(GFPT1):c.*6102T>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336783	NM_001244710.2(GFPT1):c.*6094C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 336784	NM_001244710.2(GFPT1):c.*6085C>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 896211	NM_001244710.2(GFPT1):c.*6039G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336785	NM_001244710.2(GFPT1):c.*6016C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896212	NM_001244710.2(GFPT1):c.*6003G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 336786	NM_001244710.2(GFPT1):c.*5901del	GFPT1	Deletion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 896213	NM_001244710.2(GFPT1):c.*5884A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896214	NM_001244710.2(GFPT1):c.*5820C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896215	NM_001244710.2(GFPT1):c.*5800G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896216	NM_001244710.2(GFPT1):c.*5764A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896217	NM_001244710.2(GFPT1):c.*5713T>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336787	NM_001244710.2(GFPT1):c.*5673C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336788	NM_001244710.2(GFPT1):c.*5514G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897817	NM_001244710.2(GFPT1):c.*5476C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897818	NM_001244710.2(GFPT1):c.*5464A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897819	NM_001244710.2(GFPT1):c.*5448A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897820	NM_001244710.2(GFPT1):c.*5437G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336789	NM_001244710.2(GFPT1):c.*5432G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336790	NM_001244710.2(GFPT1):c.*5401dup	GFPT1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 897821	NM_001244710.2(GFPT1):c.*5390T>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336791	NM_001244710.2(GFPT1):c.*5354G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 898972	NM_001244710.2(GFPT1):c.*5353C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336792	NM_001244710.2(GFPT1):c.*5325T>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336793	NM_001244710.2(GFPT1):c.*5288TC[9]	GFPT1	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 336794	NM_001244710.2(GFPT1):c.*5261G>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336795	NM_001244710.2(GFPT1):c.5195_5199delinsTGTCTTTTTTATA	GFPT1	Indel (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 336796	NM_001244710.2(GFPT1):c.*5004G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336797	NM_001244710.2(GFPT1):c.*5001G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336798	NM_001244710.2(GFPT1):c.*4944A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 898973	NM_001244710.2(GFPT1):c.*4830A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336799	NM_001244710.2(GFPT1):c.*4826A>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336800	NM_001244710.2(GFPT1):c.*4761G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336801	NM_001244710.2(GFPT1):c.*4730G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 894843	NM_001244710.2(GFPT1):c.*4724A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336802	NM_001244710.2(GFPT1):c.*4650A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336803	NM_001244710.2(GFPT1):c.*4520G>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 894844	NM_001244710.2(GFPT1):c.*4403G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 896282	NM_001244710.2(GFPT1):c.*4375A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336804	NM_001244710.2(GFPT1):c.*4274A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 336805	NM_001244710.2(GFPT1):c.*4259C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896283	NM_001244710.2(GFPT1):c.*4230C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336806	NM_001244710.2(GFPT1):c.*4229A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896284	NM_001244710.2(GFPT1):c.*4121A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336807	NM_001244710.2(GFPT1):c.*4059A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336808	NM_001244710.2(GFPT1):c.*4053T>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336809	NM_001244710.2(GFPT1):c.3987_3989del	GFPT1	Deletion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GLikely benign
Select item 897902	NM_001244710.2(GFPT1):c.*3921C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336810	NM_001244710.2(GFPT1):c.*3805del	GFPT1	Deletion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Recessive	GUncertain significance
Select item 336811	NM_001244710.2(GFPT1):c.*3781G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336812	NM_001244710.2(GFPT1):c.*3679G>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336813	NM_001244710.2(GFPT1):c.*3579T>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336814	NM_001244710.2(GFPT1):c.*3576A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897903	NM_001244710.2(GFPT1):c.*3438A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336815	NM_001244710.2(GFPT1):c.*3385G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336817	NM_001244710.2(GFPT1):c.*3345C>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336816	NM_001244710.2(GFPT1):c.*3345C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 899039	NM_001244710.2(GFPT1):c.*3287G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336818	NM_001244710.2(GFPT1):c.*3285A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336819	NM_001244710.2(GFPT1):c.*3134A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 336821	NM_001244710.2(GFPT1):c.*3091A>C	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336820	NM_001244710.2(GFPT1):c.*3091A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336822	NM_001244710.2(GFPT1):c.*3090G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336823	NM_001244710.2(GFPT1):c.*3065G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336824	NM_001244710.2(GFPT1):c.*3021T>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336825	NM_001244710.2(GFPT1):c.*3019G>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336826	NM_001244710.2(GFPT1):c.*2916A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 894913	NM_001244710.2(GFPT1):c.*2907C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 896354	NM_001244710.2(GFPT1):c.*2758G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896355	NM_001244710.2(GFPT1):c.*2722C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336827	NM_001244710.2(GFPT1):c.*2720C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336828	NM_001244710.2(GFPT1):c.*2685A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 336829	NM_001244710.2(GFPT1):c.*2669C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +1 more	GBenign
Select item 896356	NM_001244710.2(GFPT1):c.*2634C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 896357	NM_001244710.2(GFPT1):c.*2622G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897968	NM_001244710.2(GFPT1):c.*2511T>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GBenign
Select item 336831	NM_001244710.2(GFPT1):c.*2510A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336830	NM_001244710.2(GFPT1):c.*2510del	GFPT1	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 336832	NM_001244710.2(GFPT1):c.*2509A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897969	NM_001244710.2(GFPT1):c.*2508A>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897970	NM_001244710.2(GFPT1):c.*2498A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336833	NM_001244710.2(GFPT1):c.*2473C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336834	NM_001244710.2(GFPT1):c.*2464C>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 897971	NM_001244710.2(GFPT1):c.*2428G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 336835	NM_001244710.2(GFPT1):c.*2420C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 899101	NM_001244710.2(GFPT1):c.*2418C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 899102	NM_001244710.2(GFPT1):c.*2410C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336836	NM_001244710.2(GFPT1):c.*2368C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336837	NM_001244710.2(GFPT1):c.*2364C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 336838	NM_001244710.2(GFPT1):c.*2325G>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 899103	NM_001244710.2(GFPT1):c.*2323C>T	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 336839	NM_001244710.2(GFPT1):c.*2310A>G	GFPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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