"Ambry Genetics"[submitter] AND "FIGNL1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095217	NM_001287492.4(FIGNL1):c.1972A>C (p.Lys658Gln)	FIGNL1 (K547Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542414	NM_001287492.4(FIGNL1):c.1922A>G (p.Tyr641Cys)	FIGNL1 (Y530C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217471	NM_001287492.4(FIGNL1):c.1898C>T (p.Pro633Leu)	FIGNL1 (P522L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355159	NM_001287492.4(FIGNL1):c.1826C>T (p.Thr609Ile)	FIGNL1 (T609I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278882	NM_001287492.4(FIGNL1):c.1825A>G (p.Thr609Ala)	FIGNL1 (T498A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095216	NM_001287492.4(FIGNL1):c.1822A>G (p.Met608Val)	FIGNL1 (M497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095215	NM_001287492.4(FIGNL1):c.1805C>T (p.Ala602Val)	FIGNL1 (A491V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292602	NM_001287492.4(FIGNL1):c.1784A>G (p.Gln595Arg)	FIGNL1 (Q484R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315455	NM_001287492.4(FIGNL1):c.1628G>A (p.Gly543Glu)	FIGNL1 (G432E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213856	NM_001287492.4(FIGNL1):c.1613G>A (p.Arg538His)	FIGNL1 (R538H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524723	NM_001287492.4(FIGNL1):c.1612C>T (p.Arg538Cys)	FIGNL1 (R427C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463809	NM_001287492.4(FIGNL1):c.1610A>G (p.Asp537Gly)	FIGNL1 (D426G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095213	NM_001287492.4(FIGNL1):c.1534G>A (p.Gly512Ser)	FIGNL1 (G401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095212	NM_001287492.4(FIGNL1):c.1511C>T (p.Ser504Phe)	FIGNL1 (S504F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095211	NM_001287492.4(FIGNL1):c.1489A>G (p.Ile497Val)	FIGNL1 (I497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379865	NM_001287492.4(FIGNL1):c.1448G>A (p.Arg483His)	FIGNL1 (R372H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376884	NM_001287492.4(FIGNL1):c.1429G>A (p.Glu477Lys)	FIGNL1 (E366K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238711	NM_001287492.4(FIGNL1):c.1417A>C (p.Lys473Gln)	FIGNL1 (K362Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240316	NM_001287492.4(FIGNL1):c.1151T>C (p.Ile384Thr)	FIGNL1 (I273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609165	NM_001287492.4(FIGNL1):c.1109A>G (p.His370Arg)	FIGNL1 (H370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389187	NM_001287492.4(FIGNL1):c.1081T>C (p.Tyr361His)	FIGNL1 (Y361H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385530	NM_001287492.4(FIGNL1):c.956C>T (p.Ser319Phe)	FIGNL1 (S208F +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 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 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 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 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 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 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 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 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 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 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 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 3278883	NM_001287492.4(FIGNL1):c.380A>G (p.Asp127Gly)	FIGNL1, LOC126860033 (D127G +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 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 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 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 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 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 2210849	NM_001287492.4(FIGNL1):c.40T>C (p.Trp14Arg)	FIGNL1, LOC126860033 (W14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 45