Related gene-specific medical variations for Gene (Select 3758) - ClinVar - NCBI

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

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359194	NM_153766.3(KCNJ1):c.388G>T (p.Val130Leu)	KCNJ1 (V130L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3359193	NM_153766.3(KCNJ1):c.770G>T (p.Ser257Ile)	KCNJ1 (S257I +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3068007	NM_153766.3(KCNJ1):c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)	KCNJ1	Indel (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3064889	NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter)	KCNJ1 (W80* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GLikely pathogenic
Select item 2689288	NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)	KCNJ1 (S72T +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2432998	NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)	KCNJ1 (D27G +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1809678	NM_153766.3(KCNJ1):c.*1C>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 591731	NM_153766.3(KCNJ1):c.305G>A (p.Cys102Tyr)	KCNJ1 (C102Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591567	NM_153766.3(KCNJ1):c.623A>G (p.Tyr208Cys)	KCNJ1 (Y208C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591088	NM_153766.3(KCNJ1):c.1000C>T (p.Pro334Ser)	KCNJ1 (P334S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161825	NM_153766.3(KCNJ1):c.1094A>T (p.Asn365Ile)	KCNJ1 (N365I +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 64393	NM_153766.3(KCNJ1):c.719A>C (p.Asn240Thr)	KCNJ1 (N240T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64390	NM_153766.3(KCNJ1):c.98A>C (p.Glu33Ala)	KCNJ1 (E33A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64389	NM_153766.3(KCNJ1):c.1028A>C (p.Glu343Ala)	KCNJ1 (E343A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64388	NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys)	KCNJ1 (E343K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64387	NM_153766.3(KCNJ1):c.*5G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 9156	KCNJ1, TRP58TER	KCNJ1	Variation	Bartter disease type 2	GPathogenic