"Ambry Genetics"[submitter] AND "FAHD1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2257141	NM_031208.4(FAHD1):c.169C>A (p.Leu57Ile)	FAHD1, LOC130058194 (L57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091594	NM_031208.4(FAHD1):c.172A>G (p.Met58Val)	FAHD1, LOC130058194 (M58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091595	NM_031208.4(FAHD1):c.184A>C (p.Thr62Pro)	FAHD1, LOC130058194 (T62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371286	NM_031208.4(FAHD1):c.187C>T (p.Arg63Cys)	FAHD1, LOC130058194 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339136	NM_031208.4(FAHD1):c.231G>C (p.Lys77Asn)	FAHD1 (K77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615506	NM_031208.4(FAHD1):c.245T>A (p.Val82Asp)	FAHD1 (V82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454579	NM_031208.4(FAHD1):c.290G>C (p.Cys97Ser)	FAHD1 (C97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091596	NM_031208.4(FAHD1):c.314T>C (p.Val105Ala)	FAHD1 (V105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486500	NM_031208.4(FAHD1):c.356C>A (p.Ala119Glu)	FAHD1 (A119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091597	NM_031208.4(FAHD1):c.379C>T (p.Pro127Ser)	FAHD1 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624403	NM_031208.4(FAHD1):c.499C>T (p.Pro167Ser)	FAHD1 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277061	NM_031208.4(FAHD1):c.508A>C (p.Ile170Leu)	FAHD1 (I170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277060	NM_031208.4(FAHD1):c.508A>G (p.Ile170Val)	FAHD1 (I170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241378	NM_031208.4(FAHD1):c.515A>G (p.Tyr172Cys)	FAHD1 (Y172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386601	NM_031208.4(FAHD1):c.533C>G (p.Thr178Ser)	FAHD1 (T178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277062	NM_031208.4(FAHD1):c.545G>A (p.Gly182Glu)	FAHD1 (G182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225259	NM_031208.4(FAHD1):c.545G>T (p.Gly182Val)	FAHD1 (G182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486132	NM_031208.4(FAHD1):c.577G>A (p.Val193Ile)	FAHD1 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091598	NM_031208.4(FAHD1):c.610G>A (p.Ala204Thr)	FAHD1 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315102	NM_031208.4(FAHD1):c.614G>A (p.Gly205Asp)	FAHD1 (G205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125263	NM_001163560.3(MEIOB):c.1407A>C (p.Lys469Asn)	FAHD1, MEIOB (K469N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610490	NM_001163560.3(MEIOB):c.1320C>A (p.His440Gln)	FAHD1, MEIOB (H411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125262	NM_001163560.3(MEIOB):c.1309G>A (p.Val437Ile)	FAHD1, MEIOB (V437I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483307	NM_001163560.3(MEIOB):c.1309G>C (p.Val437Leu)	FAHD1, MEIOB (V408L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125261	NM_001163560.3(MEIOB):c.1295T>G (p.Ile432Ser)	FAHD1, MEIOB (I432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492907	NM_001163560.3(MEIOB):c.1276C>A (p.Leu426Ile)	FAHD1, MEIOB (L426I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512500	NM_001163560.3(MEIOB):c.1243G>A (p.Asp415Asn)	FAHD1, MEIOB (D415N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363716	NM_001163560.3(MEIOB):c.1217C>T (p.Thr406Met)	FAHD1, MEIOB (T406M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28