ClinVar for MedGen (Select 1631337) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341382	NM_001134232.2(TMEM106B):c.322C>G (p.Leu108Val)	TMEM106B (L108V)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2585394	NM_001134232.2(TMEM106B):c.167G>T (p.Arg56Ile)	TMEM106B (R56I)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2437108	NM_001134232.2(TMEM106B):c.697A>G (p.Thr233Ala)	TMEM106B (T233A)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 2229552	NM_001134232.2(TMEM106B):c.464A>G (p.Asn155Ser)	TMEM106B (N155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806032	NM_001134232.2(TMEM106B):c.523G>A (p.Val175Ile)	TMEM106B (V175I)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 1342221	NM_001134232.2(TMEM106B):c.686+29T>A	TMEM106B	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 16	GBenign
Select item 1342220	NM_001134232.2(TMEM106B):c.442-44_442-43insGTTT	TMEM106B	Insertion (intron variant)	Leukodystrophy, hypomyelinating, 16	GBenign
Select item 1168270	NM_001134232.2(TMEM106B):c.687-11A>G	TMEM106B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168238	NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser)	TMEM106B (T185S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1028107	NM_001134232.2(TMEM106B):c.55G>C (p.Asp19His)	TMEM106B (D19H)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 16	GUncertain significance
Select item 523236	NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	TMEM106B (D252N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic