"Ambry Genetics"[submitter] AND "NFXL1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230726	NM_001278624.2(NFXL1):c.2623G>A (p.Asp875Asn)	LOC101927179, NFXL1 (D875N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260362	NM_001278624.2(NFXL1):c.2519C>G (p.Ala840Gly)	LOC101927179, NFXL1 (A840G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511732	NM_001278624.2(NFXL1):c.2443C>T (p.Arg815Cys)	LOC101927179, NFXL1 (R815C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198759	NM_001278624.2(NFXL1):c.2392C>G (p.Leu798Val)	LOC101927179, NFXL1 (L798V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206233	NM_001278624.2(NFXL1):c.2381A>G (p.Gln794Arg)	LOC101927179, NFXL1 (Q794R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597199	NM_001278624.2(NFXL1):c.2320C>T (p.Pro774Ser)	LOC101927179, NFXL1 (P774S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322803	NM_001278624.2(NFXL1):c.2264A>T (p.Asp755Val)	LOC101927179, NFXL1 (D755V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265550	NM_001278624.2(NFXL1):c.2147C>T (p.Pro716Leu)	LOC101927179, NFXL1 (P716L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2618570	NM_001278624.2(NFXL1):c.1919A>C (p.Glu640Ala)	LOC101927179, NFXL1 (E640A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198737	NM_001278624.2(NFXL1):c.1861C>T (p.Pro621Ser)	LOC101927179, NFXL1 (P621S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609097	NM_001278624.2(NFXL1):c.1850A>G (p.Gln617Arg)	LOC101927179, NFXL1 (Q617R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556459	NM_001278624.2(NFXL1):c.1814A>C (p.Gln605Pro)	LOC101927179, NFXL1 (Q605P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511199	NM_001278624.2(NFXL1):c.1802C>T (p.Ala601Val)	LOC101927179, NFXL1 (A601V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198726	NM_001278624.2(NFXL1):c.1694A>G (p.Gln565Arg)	LOC101927179, NFXL1 (Q565R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198723	NM_001278624.2(NFXL1):c.1663A>C (p.Ser555Arg)	LOC101927179, NFXL1 (S555R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599201	NM_001278624.2(NFXL1):c.1496G>A (p.Arg499Gln)	LOC101927179, NFXL1 (R499Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367569	NM_001278624.2(NFXL1):c.1375C>G (p.Pro459Ala)	LOC101927179, NFXL1 (P459A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198715	NM_001278624.2(NFXL1):c.1349G>T (p.Arg450Leu)	LOC101927179, NFXL1 (R450L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382559	NM_001278624.2(NFXL1):c.1349G>A (p.Arg450His)	LOC101927179, NFXL1 (R450H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359546	NM_001278624.2(NFXL1):c.1334T>C (p.Val445Ala)	LOC101927179, NFXL1 (V445A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623988	NM_001278624.2(NFXL1):c.1129G>A (p.Glu377Lys)	NFXL1 (E377K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358825	NM_001278624.2(NFXL1):c.1009A>G (p.Arg337Gly)	NFXL1 (R337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551750	NM_001278624.2(NFXL1):c.985G>A (p.Ala329Thr)	NFXL1 (A329T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198832	NM_001278624.2(NFXL1):c.896G>A (p.Arg299His)	NFXL1 (R299H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198830	NM_001278624.2(NFXL1):c.887C>G (p.Pro296Arg)	NFXL1 (P296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291896	NM_001278624.2(NFXL1):c.799C>T (p.His267Tyr)	NFXL1 (H267Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198819	NM_001278624.2(NFXL1):c.776G>A (p.Arg259His)	NFXL1 (R259H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517020	NM_001278624.2(NFXL1):c.754T>G (p.Ser252Ala)	NFXL1 (S252A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359064	NM_001278624.2(NFXL1):c.595G>A (p.Val199Ile)	NFXL1 (V199I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300267	NM_001278624.2(NFXL1):c.461A>G (p.Gln154Arg)	NFXL1 (Q154R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468340	NM_001278624.2(NFXL1):c.402G>C (p.Gln134His)	NFXL1 (Q134H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361279	NM_001278624.2(NFXL1):c.397A>G (p.Thr133Ala)	NFXL1 (T133A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198790	NM_001278624.2(NFXL1):c.355A>G (p.Lys119Glu)	NFXL1 (K119E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404167	NM_001278624.2(NFXL1):c.317G>C (p.Ser106Thr)	NFXL1 (S106T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198782	NM_001278624.2(NFXL1):c.290C>T (p.Ala97Val)	NFXL1 (A97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198777	NM_001278624.2(NFXL1):c.277A>G (p.Asn93Asp)	NFXL1 (N93D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198773	NM_001278624.2(NFXL1):c.266T>A (p.Ile89Asn)	NFXL1 (I89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198770	NM_001278624.2(NFXL1):c.265A>G (p.Ile89Val)	NFXL1 (I89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198751	NM_001278624.2(NFXL1):c.230C>T (p.Ala77Val)	NFXL1 (A77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198748	NM_001278624.2(NFXL1):c.218A>C (p.Gln73Pro)	NFXL1 (Q73P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198743	NM_001278624.2(NFXL1):c.199G>A (p.Ala67Thr)	NFXL1 (A67T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224198	NM_001278624.2(NFXL1):c.181G>T (p.Gly61Trp)	NFXL1 (G61W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258411	NM_001278624.2(NFXL1):c.110G>T (p.Arg37Leu)	NFXL1 (R37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466261	NM_001278624.2(NFXL1):c.71C>T (p.Ser24Leu)	NFXL1 (S24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467714	NM_001278624.2(NFXL1):c.64G>A (p.Ala22Thr)	NFXL1 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266196	NM_001278624.2(NFXL1):c.64G>C (p.Ala22Pro)	NFXL1 (A22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 46