NFXL1[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 149579	GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3	ATP10D, CNGA1 +57 more	Copy number gain	See cases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 3041147	NM_001278624.2(NFXL1):c.1453-4T>A	LOC101927179, NFXL1	Single nucleotide variant (intron variant)	NFXL1-related disorder	GLikely benign
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 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 3038168	NM_001278624.2(NFXL1):c.1330-7C>T	LOC101927179, NFXL1	Single nucleotide variant (intron variant)	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 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 3056100	NM_001278624.2(NFXL1):c.876G>A (p.Lys292=)	NFXL1	Single nucleotide variant (synonymous variant +1 more)	NFXL1-related disorder	GBenign
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 3060540	NM_001278624.2(NFXL1):c.737C>T (p.Pro246Leu)	NFXL1 (P246L)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
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 3044900	NM_001278624.2(NFXL1):c.582C>T (p.Asp194=)	NFXL1	Single nucleotide variant (synonymous variant +1 more)	NFXL1-related disorder	GBenign
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 3039460	NM_001278624.2(NFXL1):c.450T>A (p.Asn150Lys)	NFXL1 (N150K)	Single nucleotide variant (missense variant +1 more)	NFXL1-related disorder	GBenign
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 3050544	NM_001278624.2(NFXL1):c.93C>T (p.Arg31=)	NFXL1	Single nucleotide variant (synonymous variant +1 more)	NFXL1-related disorder	GLikely benign
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
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1527085	GRCh37/hg19 4p12(chr4:47488430-47906770)	ATP10D, CORIN +1 more	Copy number gain	not specified	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814550	GRCh37/hg19 4p12(chr4:47913550-48036790)x1	NIPAL1, CNGA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814549	GRCh37/hg19 4p12(chr4:47618736-47895086)x3	NFXL1, CORIN	Copy number gain	not provided	GUncertain significance
Select item 694454	GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3	ATP10D, CNGA1 +11 more	Copy number gain	Autism	GLikely pathogenic
Select item 562910	GRCh37/hg19 4p12(chr4:47828849-48182073)x1	TEC, NIPAL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 83