"Genetic Services Laboratory, University of Chicago"[submitter] AND "K - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205823	NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	KCNJ10 (R348H)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 7470	NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)	KCNJ10 (R348C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 129318	NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)	KCNJ10 (R271H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 129317	NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)	KCNJ10 (R271C)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GBenign/Likely benign
Select item 205815	NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)	KCNJ10 (D245E)	Single nucleotide variant (missense variant)	KCNJ10-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 287539	NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41471	NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)	KCNJ10 (R175Q)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GConflicting classifications of pathogenicity
Select item 129315	NM_002241.5(KCNJ10):c.501G>A (p.Ala167=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +2 more	GLikely benign
Select item 435553	NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)	KCNJ10 (D100E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 435551	NM_002241.5(KCNJ10):c.274G>T (p.Ala92Ser)	KCNJ10 (A92S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 416616	NM_002241.5(KCNJ10):c.225T>C (p.Phe75=)	KCNJ10	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 378001	NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)	KCNJ10	Single nucleotide variant (synonymous variant)	KCNJ10-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1335935	NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)	KCNJ10 (V39M)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 447633	NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)	KCNJ10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 211218	NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	KCNJ10 (R26*)	Single nucleotide variant (nonsense)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 129316	NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)	KCNJ10 (R18Q)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 435552	NM_002241.5(KCNJ10):c.10G>A (p.Val4Ile)	KCNJ10 (V4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance