Related gene-specific medical variations for Gene (Select 283232) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327185	NM_001042463.2(TMEM80):c.199C>G (p.Pro67Ala)	DEAF1, TMEM80 (P19A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327183	NM_001042463.2(TMEM80):c.202G>A (p.Ala68Thr)	DEAF1, TMEM80 (A68T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179660	NM_001042463.3(TMEM80):c.361G>A (p.Ala121Thr)	DEAF1, TMEM80 (A121T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179659	NM_001042463.3(TMEM80):c.299T>A (p.Leu100His)	DEAF1, TMEM80 (L117H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641089	NM_001367390.1(DEAF1):c.-438+2046C>T	DEAF1, TMEM80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641088	NM_001042463.3(TMEM80):c.80G>A (p.Gly27Glu)	DEAF1, TMEM80 (G27E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2641087	NM_001042463.3(TMEM80):c.9C>T (p.Ala3=)	DEAF1, TMEM80	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2589122	NM_001042463.3(TMEM80):c.352G>A (p.Ala118Thr)	DEAF1, TMEM80 (A98T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528437	NM_001042463.3(TMEM80):c.172G>C (p.Asp58His)	DEAF1, TMEM80 (D38H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508340	NM_001042463.3(TMEM80):c.158G>A (p.Arg53His)	DEAF1, TMEM80 (R53H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455624	NM_001042463.3(TMEM80):c.344C>T (p.Ala115Val)	DEAF1, TMEM80 (A115V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2412496	NM_001042463.3(TMEM80):c.151C>T (p.Pro51Ser)	DEAF1, TMEM80 (P51S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389860	NM_001042463.3(TMEM80):c.5C>T (p.Ala2Val)	DEAF1, TMEM80 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373224	NM_001042463.3(TMEM80):c.157C>T (p.Arg53Cys)	DEAF1, TMEM80 (R53C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348330	NM_001042463.3(TMEM80):c.8C>T (p.Ala3Val)	DEAF1, TMEM80 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345981	NM_001042463.3(TMEM80):c.365C>T (p.Thr122Met)	DEAF1, TMEM80 (T139M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344764	NM_001042463.2(TMEM80):c.161G>A (p.Arg54Gln)	DEAF1, TMEM80 (R54Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328228	NM_001042463.3(TMEM80):c.394G>A (p.Val132Ile)	DEAF1, TMEM80 (V112I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313016	NM_001042463.3(TMEM80):c.118A>G (p.Met40Val)	DEAF1, TMEM80 (M40V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301811	NM_001042463.3(TMEM80):c.202C>G (p.Leu68Val)	DEAF1, TMEM80 (L68V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226271	NM_001042463.3(TMEM80):c.322T>C (p.Trp108Arg)	DEAF1, TMEM80 (W88R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213176	NM_001042463.3(TMEM80):c.268G>A (p.Ala90Thr)	DEAF1, TMEM80 (A107T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22