ClinVar for MedGen (Select 1794187) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235081	NM_001829.4(CLCN3):c.171T>A (p.Tyr57Ter)	CLCN3 (Y30* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 3066106	NM_001829.4(CLCN3):c.866C>A (p.Ala289Asp)	CLCN3 (A262D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2692340	NM_001829.4(CLCN3):c.2333T>G (p.Leu778Arg)	CLCN3 (L751R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2575062	NM_001829.4(CLCN3):c.1949A>G (p.His650Arg)	CLCN3 (H623R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2574683	NM_001829.4(CLCN3):c.1819A>G (p.Ile607Val)	CLCN3 (I580V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 2572465	NM_001829.4(CLCN3):c.1109G>A (p.Gly370Asp)	CLCN3 (G343D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1687210	NM_001829.4(CLCN3):c.466C>G (p.Leu156Val)	CLCN3 (L129V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1687158	NM_001829.4(CLCN3):c.491C>T (p.Ala164Val)	CLCN3 (A137V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1333367	NM_001829.4(CLCN3):c.1100A>G (p.Asn367Ser)	CLCN3 (N340S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1192291	NM_001829.4(CLCN3):c.2315T>C (p.Val772Ala)	CLCN3 (V745A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1192290	NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)	CLCN3 (I580T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1192289	NM_001829.4(CLCN3):c.1238C>T (p.Ala413Val)	CLCN3 (A386V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1192288	NM_001829.4(CLCN3):c.971T>C (p.Val324Ala)	CLCN3 (V297A +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1192287	NM_001829.4(CLCN3):c.1357A>C (p.Ser453Arg)	CLCN3 (S426R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1192286	NM_001829.4(CLCN3):c.254A>G (p.Tyr85Cys)	CLCN3 (Y58C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 995566	NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)	CLCN3 (I225T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 929948	NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)	CLCN3 (T543I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities +1 more	GLikely pathogenic