Related gene-specific medical variations for Gene (Select 54822) - ClinVar

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Links from Gene

Items: 21

	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 3336067	NM_017672.6(TRPM7):c.4074T>G (p.Ser1358Arg)	LOC126862130, TRPM7 (S1358R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329306	NM_017672.6(TRPM7):c.3650G>A (p.Arg1217His)	LOC126862130, TRPM7 (R1217H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329302	NM_017672.6(TRPM7):c.11A>G (p.Lys4Arg)	LOC128092252, TRPM7 (K4R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3234682	NM_017672.6(TRPM7):c.3754C>T (p.Gln1252Ter)	LOC126862130, TRPM7 (Q1252*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3183418	NM_017672.6(TRPM7):c.4051T>C (p.Ser1351Pro)	LOC126862130, TRPM7 (S1351P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183417	NM_017672.6(TRPM7):c.3808A>C (p.Ile1270Leu)	LOC126862130, TRPM7 (I1270L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183407	NM_017672.6(TRPM7):c.136C>T (p.Arg46Cys)	LOC128092252, TRPM7 (R46C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3037328	NM_017672.6(TRPM7):c.3846T>G (p.Gly1282=)	LOC126862130, TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3031483	NM_017672.6(TRPM7):c.84-3_84-2dup	LOC128092252, TRPM7	Duplication (splice acceptor variant)	TRPM7-related disorder	GLikely benign
Select item 2645333	NM_001414947.1(LOC128092252):c.147G>A (p.Val49=)	LOC128092252, TRPM7	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2488330	NM_017672.6(TRPM7):c.184T>C (p.Tyr62His)	LOC128092252, TRPM7 (Y62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474469	NM_017672.6(TRPM7):c.3898T>C (p.Ser1300Pro)	LOC126862130, TRPM7 (S1300P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458569	NM_017672.6(TRPM7):c.3880G>A (p.Val1294Ile)	LOC126862130, TRPM7 (V1294I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408141	NM_017672.6(TRPM7):c.4043C>G (p.Ala1348Gly)	LOC126862130, TRPM7 (A1348G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244881	NM_017672.6(TRPM7):c.3656A>G (p.Asn1219Ser)	LOC126862130, TRPM7 (N1219S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1265922	NM_017672.6(TRPM7):c.123-26G>C	LOC128092252, TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232550	NM_017672.6(TRPM7):c.83+217A>G	LOC128092252, TRPM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 998083	NM_017672.6(TRPM7):c.3+1G>C	LOC128092252, TRPM7	Single nucleotide variant (splice donor variant)	Intestinal hypomagnesemia 1	GPathogenic
Select item 736080	NM_017672.6(TRPM7):c.3968A>G (p.Lys1323Arg)	LOC126862130, TRPM7 (K1323R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 21