"Clinical Genetics, Academic Medical Center"[submitter] AND "TRPM4"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260834	NM_017636.4(TRPM4):c.-12G>A	TRPM4	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 389832	NM_017636.4(TRPM4):c.24+6C>G	TRPM4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329844	NM_017636.4(TRPM4):c.267+14C>G	TRPM4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 220959	NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr)	TRPM4 (A101T)	Single nucleotide variant (missense variant +1 more)	TRPM4-related condition +4 more	GBenign/Likely benign
Select item 220960	NM_017636.4(TRPM4):c.306T>G (p.Val102=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	TRPM4-related condition +4 more	GBenign/Likely benign
Select item 329846	NM_017636.4(TRPM4):c.375G>A (p.Ser125=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign
Select item 241180	NM_017636.4(TRPM4):c.449-10G>A	TRPM4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 386319	NM_017636.4(TRPM4):c.870C>T (p.Asn290=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 329852	NM_017636.4(TRPM4):c.1041G>T (p.Leu347=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign
Select item 329853	NM_017636.4(TRPM4):c.1050+13_1050+16dup	TRPM4	Duplication (intron variant)	Progressive familial heart block +3 more	GBenign/Likely benign
Select item 381197	NM_017636.4(TRPM4):c.1151-20T>A	TRPM4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 329854	NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)	TRPM4	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 35487	NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)	HRC, TRPM4 (A432T +3 more)	Single nucleotide variant (missense variant +1 more)	Progressive familial heart block, type 1A +4 more	GConflicting classifications of pathogenicity
Select item 241173	NM_017636.4(TRPM4):c.1368C>G (p.Thr456=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 241176	NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)	TRPM4 (W525* +3 more)	Single nucleotide variant (nonsense +1 more)	Sudden cardiac death +4 more	GConflicting classifications of pathogenicity
Select item 35486	NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)	HRC, TRPM4 (G582S +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 515281	NM_017636.4(TRPM4):c.2020-4A>C	TRPM4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 329864	NM_017636.4(TRPM4):c.2380C>T (p.Leu794=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block type IB +2 more	GBenign
Select item 35489	NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)	TRPM4 (G844D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264108	NM_017636.4(TRPM4):c.2934T>C (p.Ile978=)	TRPM4	Single nucleotide variant (synonymous variant)	Progressive familial heart block type IB +2 more	GBenign/Likely benign
Select item 1328064	NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser)	TRPM4 (G462S +5 more)	Single nucleotide variant (missense variant)	Progressive familial heart block type IB +2 more	GUncertain significance
Select item 1284851	NM_017636.4(TRPM4):c.2999G>A (p.Trp1000Ter)	TRPM4 (W1000* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 329871	NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=)	TRPM4	Single nucleotide variant (synonymous variant)	Progressive familial heart block type IB +2 more	GBenign
Select item 329872	NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=)	TRPM4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 381692	NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)	TRPM4 (P1204L +5 more)	Single nucleotide variant (missense variant)	Family history of sudden cardiac death +5 more	GConflicting classifications of pathogenicity
Select item 381216	NM_017636.4(TRPM4):c.3641-19C>G	TRPM4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 26