ClinVar for Gene (Select 10482) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301701	NM_006362.5(NXF1):c.622C>G (p.Gln208Glu)	NXF1 (Q208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301700	NM_006362.5(NXF1):c.125G>A (p.Arg42Lys)	NXF1 (R42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301699	NM_006362.5(NXF1):c.1456C>G (p.Gln486Glu)	NXF1 (Q486E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3203477	NM_006362.5(NXF1):c.676G>A (p.Ala226Thr)	NXF1 (A226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203476	NM_006362.5(NXF1):c.544C>T (p.Arg182Trp)	NXF1 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203475	NM_006362.5(NXF1):c.487G>A (p.Val163Ile)	NXF1 (V163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203474	NM_006362.5(NXF1):c.323C>T (p.Ala108Val)	NXF1 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203473	NM_006362.5(NXF1):c.25A>G (p.Ser9Gly)	NXF1 (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203472	NM_006362.5(NXF1):c.1747G>C (p.Glu583Gln)	NXF1 (E583Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3203471	NM_006362.5(NXF1):c.110A>C (p.Asn37Thr)	NXF1 (N37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203470	NM_006362.5(NXF1):c.1073C>T (p.Pro358Leu)	NXF1 (P358L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2589040	NM_006362.5(NXF1):c.271C>T (p.Arg91Cys)	NXF1 (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556964	NM_006362.5(NXF1):c.1430A>T (p.Asn477Ile)	NXF1 (N477I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545368	NM_006362.5(NXF1):c.130G>A (p.Gly44Ser)	NXF1 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461407	NM_006362.5(NXF1):c.130G>T (p.Gly44Cys)	NXF1 (G44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2399511	NM_006362.5(NXF1):c.449T>C (p.Ile150Thr)	NXF1 (I150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390812	NM_006362.5(NXF1):c.1412A>G (p.Lys471Arg)	NXF1 (K471R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2289321	NM_006362.5(NXF1):c.995G>A (p.Arg332Gln)	NXF1 (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265498	NM_006362.5(NXF1):c.598A>G (p.Ile200Val)	NXF1 (I200V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210363	NM_006362.5(NXF1):c.1373C>T (p.Thr458Met)	NXF1 (T458M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 773247	NM_006362.5(NXF1):c.640C>G (p.Leu214Val)	NXF1 (L214V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747517	NM_006362.5(NXF1):c.1761-4C>A	MIR6514, NXF1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37