Related gene-specific medical variations for Gene (Select 63979) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095226	NM_001287492.4(FIGNL1):c.815C>T (p.Pro272Leu)	FIGNL1, LOC126860033 (P161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095225	NM_001287492.4(FIGNL1):c.718G>A (p.Val240Met)	FIGNL1, LOC126860033 (V129M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095224	NM_001287492.4(FIGNL1):c.649G>T (p.Val217Phe)	FIGNL1, LOC126860033 (V106F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095222	NM_001287492.4(FIGNL1):c.541C>A (p.Arg181Ser)	FIGNL1, LOC126860033 (R70S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095221	NM_001287492.4(FIGNL1):c.539A>G (p.Asn180Ser)	FIGNL1, LOC126860033 (N180S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095220	NM_001287492.4(FIGNL1):c.511G>C (p.Asp171His)	FIGNL1, LOC126860033 (D60H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095219	NM_001287492.4(FIGNL1):c.323A>G (p.Asn108Ser)	FIGNL1, LOC126860033 (N108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095218	NM_001287492.4(FIGNL1):c.221A>G (p.Asn74Ser)	FIGNL1, LOC126860033 (N74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095214	NM_001287492.4(FIGNL1):c.169A>C (p.Lys57Gln)	FIGNL1, LOC126860033 (K57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537883	NM_001287492.4(FIGNL1):c.808T>G (p.Ser270Ala)	FIGNL1, LOC126860033 (S159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521131	NM_001287492.4(FIGNL1):c.220A>G (p.Asn74Asp)	FIGNL1, LOC126860033 (N74D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512510	NM_001287492.4(FIGNL1):c.97G>A (p.Ala33Thr)	FIGNL1, LOC126860033 (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473435	NM_001287492.4(FIGNL1):c.500C>T (p.Ala167Val)	FIGNL1, LOC126860033 (A56V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460507	NM_001287492.4(FIGNL1):c.913G>A (p.Asp305Asn)	FIGNL1, LOC126860033 (D194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456566	NM_001287492.4(FIGNL1):c.550C>T (p.Leu184Phe)	FIGNL1, LOC126860033 (L184F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395979	NM_001287492.4(FIGNL1):c.59C>T (p.Ala20Val)	FIGNL1, LOC126860033 (A20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331869	NM_001287492.4(FIGNL1):c.710G>C (p.Gly237Ala)	FIGNL1, LOC126860033 (G126A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304472	NM_001287492.4(FIGNL1):c.732C>A (p.Asn244Lys)	FIGNL1, LOC126860033 (N133K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295360	NM_001287492.4(FIGNL1):c.542G>A (p.Arg181His)	FIGNL1, LOC126860033 (R181H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253546	NM_001287492.4(FIGNL1):c.86C>G (p.Pro29Arg)	FIGNL1, LOC126860033 (P29R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2215866	NM_001287492.4(FIGNL1):c.707T>C (p.Ile236Thr)	FIGNL1, LOC126860033 (I125T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210849	NM_001287492.4(FIGNL1):c.40T>C (p.Trp14Arg)	FIGNL1, LOC126860033 (W14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791288	NM_001287492.4(FIGNL1):c.531G>A (p.Pro177=)	FIGNL1, LOC126860033	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23