Related gene-specific medical variations for Gene (Select 4513) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994647	NC_012920.1(MT-CO2):m.7645T>C	MT-CO2	Single nucleotide variant	not specified	GBenign
Select item 994646	NC_012920.1(MT-CO2):m.7606A>G	MT-CO2	Single nucleotide variant	not specified	GBenign
Select item 692832	NC_012920.1(MT-CO2):m.8265T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692831	NC_012920.1(MT-CO2):m.8258T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692830	NC_012920.1(MT-CO2):m.8256T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692829	NC_012920.1(MT-CO2):m.8252C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692828	NC_012920.1(MT-CO2):m.8238T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692827	NC_012920.1(MT-CO2):m.8237A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692826	NC_012920.1(MT-CO2):m.8225A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692825	NC_012920.1(MT-CO2):m.8210A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692824	NC_012920.1(MT-CO2):m.8187G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692823	NC_012920.1(MT-CO2):m.8141G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692822	NC_012920.1(MT-CO2):m.8135T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692821	NC_012920.1(MT-CO2):m.8108A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692820	NC_012920.1(MT-CO2):m.8084A>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692819	NC_012920.1(MT-CO2):m.8079T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692818	NC_012920.1(MT-CO2):m.8078G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692817	NC_012920.1(MT-CO2):m.8075G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692816	NC_012920.1(MT-CO2):m.8069T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692815	NC_012920.1(MT-CO2):m.8060G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692814	NC_012920.1(MT-CO2):m.8033A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692813	NC_012920.1(MT-CO2):m.8030C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692812	NC_012920.1(MT-CO2):m.8027G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692811	NC_012920.1(MT-CO2):m.8026A>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692810	NC_012920.1(MT-CO2):m.8022T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692809	NC_012920.1(MT-CO2):m.8021A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692808	NC_012920.1(MT-CO2):m.8012G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692807	NC_012920.1(MT-CO2):m.8010T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692806	NC_012920.1(MT-CO2):m.8001A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692805	NC_012920.1(MT-CO2):m.7980A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692804	NC_012920.1(MT-CO2):m.7976G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692803	NC_012920.1(MT-CO2):m.7964T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692802	NC_012920.1(MT-CO2):m.7962T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692801	NC_012920.1(MT-CO2):m.7943T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692800	NC_012920.1(MT-CO2):m.7941A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692799	NC_012920.1(MT-CO2):m.7934A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692798	NC_012920.1(MT-CO2):m.7926G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692796	NC_012920.1(MT-CO2):m.7922T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692795	NC_012920.1(MT-CO2):m.7919G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692794	NC_012920.1(MT-CO2):m.7904A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692793	NC_012920.1(MT-CO2):m.7898T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692792	NC_012920.1(MT-CO2):m.7874A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692791	NC_012920.1(MT-CO2):m.7868C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692790	NC_012920.1(MT-CO2):m.7859G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692789	NC_012920.1(MT-CO2):m.7854T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692788	NC_012920.1(MT-CO2):m.7853G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692787	NC_012920.1(MT-CO2):m.7844A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692786	NC_012920.1(MT-CO2):m.7844A>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692785	NC_012920.1(MT-CO2):m.7833T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692784	NC_012920.1(MT-CO2):m.7830G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692783	NC_012920.1(MT-CO2):m.7814G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692782	NC_012920.1(MT-CO2):m.7811A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692781	NC_012920.1(MT-CO2):m.7808C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692780	NC_012920.1(MT-CO2):m.7806T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692779	NC_012920.1(MT-CO2):m.7805G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692778	NC_012920.1(MT-CO2):m.7797T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692777	NC_012920.1(MT-CO2):m.7796A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692776	NC_012920.1(MT-CO2):m.7785T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692775	NC_012920.1(MT-CO2):m.7784A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692774	NC_012920.1(MT-CO2):m.7775G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692773	NC_012920.1(MT-CO2):m.7772A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692772	NC_012920.1(MT-CO2):m.7761A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692771	NC_012920.1(MT-CO2):m.7757G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692770	NC_012920.1(MT-CO2):m.7754G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692769	NC_012920.1(MT-CO2):m.7751T>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692766	NC_012920.1(MT-CO2):m.7718A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692765	NC_012920.1(MT-CO2):m.7713T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692764	NC_012920.1(MT-CO2):m.7706G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692763	NC_012920.1(MT-CO2):m.7698T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692762	NC_012920.1(MT-CO2):m.7697G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692761	NC_012920.1(MT-CO2):m.7691T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692760	NC_012920.1(MT-CO2):m.7686T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692759	NC_012920.1(MT-CO2):m.7679T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692757	NC_012920.1(MT-CO2):m.7673A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692756	NC_012920.1(MT-CO2):m.7664G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692755	NC_012920.1(MT-CO2):m.7664G>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692754	NC_012920.1(MT-CO2):m.7650C>T	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692753	NC_012920.1(MT-CO2):m.7649A>G	MT-CO2	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692752	NC_012920.1(MT-CO2):m.7632T>C	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692751	NC_012920.1(MT-CO2):m.7628C>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692750	NC_012920.1(MT-CO2):m.7608G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692749	NC_012920.1(MT-CO2):m.7604G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692748	NC_012920.1(MT-CO2):m.7598G>A	MT-CO2	Single nucleotide variant	Leigh syndrome	GBenign
Select item 618723	NC_012920.1:m.8156G>C	MT-CO2	Single nucleotide variant	not provided	GUncertain significance
Select item 618722	NC_012920.1:m.8202T>C	MT-CO2	Single nucleotide variant	not provided	GUncertain significance
Select item 430690	NC_012920.1:m.7989T>C	MT-CO2	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 377045	NC_012920.1:m.8260T>C	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 376897	NC_012920.1:m.7789G>A	MT-CO2	Single nucleotide variant	not provided	GBenign
Select item 235679	NC_012920.1:m.8047T>C	MT-CO2	Single nucleotide variant	not provided	GUncertain significance
Select item 235521	NC_012920.1:m.7861T>C	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 235379	NC_012920.1:m.7819C>A	MT-CO2	Single nucleotide variant	not provided	GLikely benign
Select item 235282	NC_012920.1:m.7867C>T	MT-CO2	Single nucleotide variant	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 92