ClinVar for MedGen (Select 893350) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303575	NM_153766.3(KCNJ1):c.45G>A (p.Gly15=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 303567	NM_153766.3(KCNJ1):c.*73A>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome +1 more	GBenign
Select item 303565	NM_153766.3(KCNJ1):c.*141G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GUncertain significance
Select item 303561	NM_153766.3(KCNJ1):c.499_501dup	KCNJ1	Duplication (3 prime UTR variant)	Antenatal Bartter syndrome	GBenign
Select item 303558	NM_153766.3(KCNJ1):c.*597C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GUncertain significance
Select item 303557	NM_153766.3(KCNJ1):c.*669A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GLikely benign
Select item 303556	NM_153766.3(KCNJ1):c.*676A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GBenign
Select item 303554	NM_153766.3(KCNJ1):c.*1011C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GBenign
Select item 303553	NM_153766.3(KCNJ1):c.*1045C>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Antenatal Bartter syndrome	GBenign
Select item 235236	NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)	KCNJ1 (T67A +2 more)	Single nucleotide variant (missense variant)	KCNJ1-related disorder +2 more	GBenign/Likely benign