Related gene-specific medical variations for Gene (Select 50488) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126640	NM_153827.5(MINK1):c.20C>T (p.Ala7Val)	LOC130060036, MINK1 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647272	NM_153827.5(MINK1):c.6C>T (p.Gly2=)	LOC130060036, MINK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 892125	NM_153827.5(MINK1):c.*701C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 890890	NM_153827.5(MINK1):c.*594G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323959	NM_000080.4(CHRNE):c.*743T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323958	NM_000080.4(CHRNE):c.*745G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323957	NM_000080.4(CHRNE):c.744_745insA	MINK1, CHRNE	Insertion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323956	NM_153827.5(MINK1):c.*693TCCC[1]	CHRNE, MINK1	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323955	NM_153827.5(MINK1):c.*671TG[3]	MINK1, CHRNE	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323954	NM_000080.4(CHRNE):c.*805T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323953	NM_000080.4(CHRNE):c.*806G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323952	NM_000080.4(CHRNE):c.*836C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323951	NM_000080.4(CHRNE):c.*837A>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323950	NM_000080.4(CHRNE):c.*852G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323949	NM_000080.4(CHRNE):c.*858G>C	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GLikely benign
Select item 323948	NM_000080.4(CHRNE):c.*868G>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323947	NM_000080.4(CHRNE):c.*875C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323946	NM_000080.4(CHRNE):c.*876G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323945	NM_000080.4(CHRNE):c.*902C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323944	NM_000080.4(CHRNE):c.*903G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323943	NM_000080.4(CHRNE):c.*906G>C	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323942	NM_000080.4(CHRNE):c.*930T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign

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Links from Gene

Items: 22