ClinVar for MedGen (Select 1684740) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234017	NM_002249.6(KCNN3):c.1786A>G (p.Lys596Glu)	KCNN3 (K283E +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2572455	NM_002249.6(KCNN3):c.1259G>A (p.Arg420Gln)	KCNN3 (R107Q +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2433011	NM_002249.6(KCNN3):c.2059C>T (p.Gln687Ter)	KCNN3 (Q374* +4 more)	Single nucleotide variant (nonsense)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 2431680	NM_002249.6(KCNN3):c.682C>T (p.His228Tyr)	KCNN3 (H228Y)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1804639	NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)	KCNN3 (P217L)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1679705	NM_002249.6(KCNN3):c.1701+3059C>T	KCNN3	Single nucleotide variant (intron variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1333820	NM_002249.6(KCNN3):c.504C>A (p.Asn168Lys)	KCNN3 (N168K)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1290509	NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not provided +2 more	GBenign
Select item 1098591	NM_002249.6(KCNN3):c.2080G>A (p.Glu694Lys)	KCNN3 (E381K +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 1064423	NM_002249.6(KCNN3):c.1606G>A (p.Ala536Thr)	KCNN3 (A223T +4 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 1029428	NM_002249.6(KCNN3):c.1343G>A (p.Arg448His)	KCNN3 (R135H +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GUncertain significance
Select item 804202	NM_002249.6(KCNN3):c.1049G>A (p.Gly350Asp)	KCNN3 (G350D +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 804201	NM_002249.6(KCNN3):c.805A>G (p.Lys269Glu)	KCNN3 (K269E)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 804200	NM_002249.6(KCNN3):c.1306A>T (p.Ser436Cys)	KCNN3 (S436C +2 more)	Single nucleotide variant (missense variant)	Zimmermann-laband syndrome 3	GPathogenic
Select item 403005	NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	Zimmermann-laband syndrome 3 +2 more	GBenign/Likely benign
Select item 403002	NM_002249.6(KCNN3):c.1047T>C (p.Asn349=)	KCNN3	Single nucleotide variant (synonymous variant)	Zimmermann-laband syndrome 3 +1 more	GBenign
Select item 403001	NM_002249.6(KCNN3):c.1092G>C (p.Leu364=)	KCNN3	Single nucleotide variant (synonymous variant)	Zimmermann-laband syndrome 3 +1 more	GBenign