"TRPM7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2645329	NM_017672.6(TRPM7):c.5309-5T>C	TRPM7	Single nucleotide variant (intron variant)	TRPM7-related disorder +1 more	GBenign/Likely benign
Select item 3038023	NM_017672.6(TRPM7):c.5268C>T (p.Tyr1756=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3037491	NM_017672.6(TRPM7):c.4979G>A (p.Ser1660Asn)	TRPM7 (S1659N +1 more)	Single nucleotide variant (missense variant +1 more)	TRPM7-related disorder	GBenign
Select item 3056472	NM_017672.6(TRPM7):c.4926G>A (p.Gly1642=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder	GBenign
Select item 3056286	NM_017672.6(TRPM7):c.4500_4502del (p.Ser1500del)	TRPM7 (S1499del +1 more)	Deletion (inframe deletion +1 more)	TRPM7-related disorder	GBenign
Select item 4807	NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)	TRPM7 (T1482I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3049123	NM_017672.6(TRPM7):c.4262A>G (p.Asp1421Gly)	TRPM7 (D1421G)	Single nucleotide variant (missense variant +1 more)	TRPM7-related disorder	GLikely benign
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 1283601	NM_017672.6(TRPM7):c.3174T>C (p.Asn1058=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	TRPM7-related disorder +1 more	GBenign
Select item 778493	NM_017672.6(TRPM7):c.2937T>C (p.Phe979=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 713636	NM_017672.6(TRPM7):c.2846T>A (p.Phe949Tyr)	TRPM7 (F949Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3050165	NM_017672.6(TRPM7):c.1635+4T>C	TRPM7	Single nucleotide variant (intron variant)	TRPM7-related disorder	GBenign
Select item 784683	NM_017672.6(TRPM7):c.1485C>T (p.Asp495=)	TRPM7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 776889	NM_017672.6(TRPM7):c.1131+3A>G	TRPM7	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex +2 more	GBenign
Select item 3031483	NM_001414947.1(LOC128092252):c.268-3_268-2dup	LOC128092252, TRPM7	Duplication (splice acceptor variant)	TRPM7-related disorder	GLikely benign