"Ambry Genetics"[submitter] AND "TMEM101"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490205	NM_032376.4(TMEM101):c.718C>T (p.Leu240Phe)	TMEM101 (L182F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486450	NM_032376.4(TMEM101):c.332C>T (p.Ser111Leu)	TMEM101 (S53L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295082	NM_032376.4(TMEM101):c.284T>A (p.Ile95Asn)	LOC126862572, TMEM101 (I95N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356368	NM_032376.4(TMEM101):c.274G>A (p.Ala92Thr)	LOC126862572, TMEM101 (A34T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482776	NM_032376.4(TMEM101):c.245C>T (p.Ala82Val)	LOC126862572, TMEM101 (A24V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253665	NM_032376.4(TMEM101):c.88G>T (p.Gly30Cys)	LOC126862572, TMEM101 (G30C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408479	NM_032376.4(TMEM101):c.77G>A (p.Cys26Tyr)	LOC126862572, TMEM101 (C26Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547614	NM_032376.4(TMEM101):c.65T>C (p.Leu22Pro)	LOC126862572, TMEM101 (L22P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475134	NM_032376.4(TMEM101):c.16G>A (p.Gly6Ser)	LOC126862572, TMEM101 (G6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance