Related gene-specific medical variations for Gene (Select 54664) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361320	NM_001134232.2(TMEM106B):c.583A>T (p.Ile195Phe)	TMEM106B (I195F)	Single nucleotide variant (missense variant)	not provided	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 1340813	GRCh37/hg19 7p21.3(chr7:12234647-12300809)x1	TMEM106B	Copy number loss	not provided	GUncertain significance
Select item 688070	GRCh37/hg19 7p21.3(chr7:12272341-12311788)x1	TMEM106B	Copy number loss	not provided	GUncertain significance
Select item 563327	GRCh37/hg19 7p21.3(chr7:11970873-12259649)x1	TMEM106B	Copy number loss	not provided	GUncertain significance
Select item 563285	GRCh37/hg19 7p21.3(chr7:12229501-12303848)x1	TMEM106B	Copy number loss	not provided	GUncertain significance

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