Related gene-specific medical variations for Gene (Select 152518) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299592	NM_001278624.2(NFXL1):c.1613C>T (p.Pro538Leu)	LOC101927179, NFXL1 (P538L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299591	NM_001278624.2(NFXL1):c.1940T>C (p.Val647Ala)	LOC101927179, NFXL1 (V647A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299589	NM_001278624.2(NFXL1):c.2517A>C (p.Glu839Asp)	LOC101927179, NFXL1 (E839D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299588	NM_001278624.2(NFXL1):c.2159G>A (p.Arg720Gln)	LOC101927179, NFXL1 (R720Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3299586	NM_001278624.2(NFXL1):c.1843T>C (p.Trp615Arg)	LOC101927179, NFXL1 (W615R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299585	NM_001278624.2(NFXL1):c.1891C>T (p.Pro631Ser)	LOC101927179, NFXL1 (P631S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299584	NM_001278624.2(NFXL1):c.1514A>G (p.Asn505Ser)	LOC101927179, NFXL1 (N505S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299581	NM_001278624.2(NFXL1):c.2509A>T (p.Ile837Leu)	LOC101927179, NFXL1 (I837L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299580	NM_001278624.2(NFXL1):c.1667G>A (p.Arg556Gln)	LOC101927179, NFXL1 (R556Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299578	NM_001278624.2(NFXL1):c.2600G>A (p.Arg867His)	LOC101927179, NFXL1 (R867H)	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 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 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 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 3060049	NM_001278624.2(NFXL1):c.1569C>T (p.Thr523=)	LOC101927179, NFXL1	Single nucleotide variant (synonymous variant +1 more)	NFXL1-related disorder	GBenign
Select item 3059749	NM_001278624.2(NFXL1):c.1803A>G (p.Ala601=)	LOC101927179, NFXL1	Single nucleotide variant (synonymous variant +1 more)	NFXL1-related disorder	GBenign
Select item 3049869	NM_001278624.2(NFXL1):c.2719A>G (p.Thr907Ala)	LOC101927179, NFXL1 (T907A)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
Select item 3044056	NM_001278624.2(NFXL1):c.1452+3T>G	LOC101927179, NFXL1	Single nucleotide variant (intron variant)	NFXL1-related disorder	GLikely benign
Select item 3042907	NM_001278624.2(NFXL1):c.2080-3C>G	LOC101927179, NFXL1	Single nucleotide variant (non-coding transcript variant +1 more)	NFXL1-related disorder	GBenign
Select item 3041147	NM_001278624.2(NFXL1):c.1453-4T>A	LOC101927179, NFXL1	Single nucleotide variant (intron variant)	NFXL1-related disorder	GLikely benign
Select item 3038168	NM_001278624.2(NFXL1):c.1330-7C>T	LOC101927179, NFXL1	Single nucleotide variant (intron variant)	NFXL1-related disorder	GBenign
Select item 3037752	NM_001278624.2(NFXL1):c.2258C>G (p.Thr753Arg)	LOC101927179, NFXL1 (T753R)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
Select item 3035860	NM_001278624.2(NFXL1):c.1294C>T (p.Arg432Cys)	LOC101927179, NFXL1 (R432C)	Single nucleotide variant (non-coding transcript variant +1 more)	NFXL1-related disorder	GLikely benign
Select item 3034738	NM_001278624.2(NFXL1):c.1706G>A (p.Arg569His)	LOC101927179, NFXL1 (R569H)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 2206233	NM_001278624.2(NFXL1):c.2381A>G (p.Gln794Arg)	LOC101927179, NFXL1 (Q794R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 40