Related gene-specific medical variations for Gene (Select 161145) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326989	NM_001348543.2(TMEM229B):c.464G>A (p.Gly155Asp)	GPHN, TMEM229B (G155D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326988	NM_001348543.2(TMEM229B):c.488A>G (p.His163Arg)	GPHN, TMEM229B (H207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326987	NM_001348543.2(TMEM229B):c.368C>T (p.Pro123Leu)	GPHN, TMEM229B (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179203	NM_001348543.2(TMEM229B):c.470T>C (p.Leu157Pro)	GPHN, TMEM229B (L201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179202	NM_001348543.2(TMEM229B):c.399G>T (p.Gln133His)	GPHN, TMEM229B (Q133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484446	NM_001348543.2(TMEM229B):c.348C>G (p.Ile116Met)	GPHN, TMEM229B (I160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483740	NM_001348543.2(TMEM229B):c.353T>C (p.Leu118Pro)	GPHN, TMEM229B (L118P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247037	NM_001348543.2(TMEM229B):c.208C>A (p.Arg70Ser)	GPHN, TMEM229B (R114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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