Related gene-specific medical variations for Gene (Select 254863) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327044	NM_152766.5(TMEM256):c.308T>C (p.Leu103Pro)	TMEM256, TMEM256-PLSCR3 (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327043	NM_152766.5(TMEM256):c.161C>A (p.Ala54Asp)	TMEM256, TMEM256-PLSCR3 (A54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327042	NM_152766.5(TMEM256):c.56C>T (p.Ala19Val)	LOC130060142, TMEM256 +1 more (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179325	NM_152766.5(TMEM256):c.239C>G (p.Thr80Ser)	TMEM256, TMEM256-PLSCR3 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179324	NM_152766.5(TMEM256):c.163C>G (p.Leu55Val)	TMEM256, TMEM256-PLSCR3 (L55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620483	NM_152766.5(TMEM256):c.11C>T (p.Pro4Leu)	LOC130060142, TMEM256 +1 more (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2608072	NM_152766.5(TMEM256):c.193C>A (p.Leu65Ile)	TMEM256, TMEM256-PLSCR3 (L65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 266078	NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)	TMEM256, TMEM256-PLSCR3 (F82fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic