ClinVar for MedGen (Select 107775) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367048	NM_017672.6(TRPM7):c.3868A>C (p.Lys1290Gln)	LOC126862130, TRPM7 (K1290Q)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 3065375	NM_017672.6(TRPM7):c.1729C>T (p.His577Tyr)	TRPM7 (H577Y)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 1683689	NM_017672.6(TRPM7):c.4928A>G (p.His1643Arg)	TRPM7 (H1642R +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 1029635	NM_017672.6(TRPM7):c.2141A>C (p.Lys714Thr)	TRPM7 (K714T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GUncertain significance
Select item 873319	NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)	PARK7 (Q45*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex	GPathogenic
Select item 776889	NM_017672.6(TRPM7):c.1131+3A>G	TRPM7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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