ClinVar for MedGen (Select 1840880) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897989	NM_001366145.2(TRPM3):c.4437G>A (p.Met1479Ile)	KLF9-DT, TRPM3 (M1304I +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3462122	NM_001366145.2(TRPM3):c.1511T>C (p.Leu504Ser)	TRPM3 (L504S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3391096	NM_001366145.2(TRPM3):c.2672C>A (p.Ala891Glu)	TRPM3 (A716E +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3377169	NM_001366145.2(TRPM3):c.1025A>G (p.Asn342Ser)	TRPM3 (N189S +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3370516	NM_001366145.2(TRPM3):c.616G>C (p.Gly206Arg)	TRPM3 (G206R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3362446	NM_001366145.2(TRPM3):c.308T>C (p.Ile103Thr)	TRPM3 (I103T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3362273	NM_001366145.2(TRPM3):c.3658G>A (p.Asp1220Asn)	KLF9-DT, TRPM3 (D1045N +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3236575	NM_001366145.2(TRPM3):c.4698G>T (p.Arg1566Ser)	KLF9-DT, TRPM3 (R1391S +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 3183318	NM_001366145.2(TRPM3):c.2878G>A (p.Ala960Thr)	TRPM3 (A785T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2663879	NM_001366145.2(TRPM3):c.2132A>C (p.Asp711Ala)	TRPM3 (D536A +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Gnot provided
Select item 1193351	NM_001366145.2(TRPM3):c.3376A>G (p.Asn1126Asp)	TRPM3 (N1104D +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 983336	NM_001366145.2(TRPM3):c.1106C>T (p.Ser369Leu)	TRPM3 (S216L +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	GUncertain significance
Select item 585073	NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	TRPM3 (V837M +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures +5 more	GPathogenic/Likely pathogenic