C0268450[trait identifier] AND "MVZ Medizinische Genetik Mainz"[submit - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068357	NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)	SLC12A3 (N148K +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3236146	NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)	SLC12A3 (G211R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3256613	NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)	SLC12A3 (T338P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3248532	NM_001126108.2(SLC12A3):c.1420G>T (p.Val474Phe)	SLC12A3 (V473F +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3066173	NM_001126108.2(SLC12A3):c.1568-12G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3068413	NM_001126108.2(SLC12A3):c.1825+1G>C	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3256662	NM_001126108.2(SLC12A3):c.1984G>T (p.Val662Leu)	SLC12A3 (V661L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3248533	NM_001126108.2(SLC12A3):c.2420-80G>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3236185	NM_001126108.2(SLC12A3):c.2925-1G>A	LOC126862361, SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic