ClinVar for MedGen (Select 1785163) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068383	NM_170741.4(KCNJ16):c.397G>T (p.Gly133Ter)	KCNJ16 (G133*)	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GLikely pathogenic
Select item 3068382	NM_170741.4(KCNJ16):c.12C>G (p.Tyr4Ter)	KCNJ16 (Y4*)	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GLikely pathogenic
Select item 1174521	NM_170741.4(KCNJ16):c.191C>T (p.Thr64Ile)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174520	NM_170741.4(KCNJ16):c.404G>C (p.Gly135Ala)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174519	NM_170741.4(KCNJ16):c.749C>T (p.Pro250Leu)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174518	NM_170741.4(KCNJ16):c.395T>G (p.Ile132Arg)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174517	NM_170741.4(KCNJ16):c.526C>T (p.Arg176Ter)	KCNJ16	Single nucleotide variant (nonsense)	Hypokalemic tubulopathy and deafness	GPathogenic
Select item 1174516	NM_170741.4(KCNJ16):c.409C>T (p.Arg137Cys)	KCNJ16	Single nucleotide variant (missense variant)	Hypokalemic tubulopathy and deafness	GPathogenic

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