"GeneDx"[submitter] AND "FRYL"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 3342492	NM_015030.2(FRYL):c.8729A>C (p.Glu2910Ala)	FRYL (E2910A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342740	NM_015030.2(FRYL):c.8350G>A (p.Glu2784Lys)	FRYL (E2784K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342565	NM_015030.2(FRYL):c.8222C>T (p.Thr2741Ile)	FRYL (T2741I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365873	NM_015030.2(FRYL):c.7998_8001del (p.Ser2669fs)	FRYL (S2669fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367426	NM_015030.2(FRYL):c.7947dup (p.Glu2650fs)	FRYL (E2650fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342635	NM_015030.2(FRYL):c.7934C>T (p.Ser2645Phe)	FRYL (S2645F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342360	NM_015030.2(FRYL):c.7706T>G (p.Leu2569Ter)	FRYL (L2569*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3372250	NM_015030.2(FRYL):c.7364T>C (p.Leu2455Pro)	FRYL (L2455P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364756	NM_015030.2(FRYL):c.6453C>A (p.Tyr2151Ter)	FRYL (Y2151*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342465	NM_015030.2(FRYL):c.6382C>T (p.Arg2128Ter)	FRYL (R2128*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342495	NM_015030.2(FRYL):c.6018A>G (p.Ile2006Met)	FRYL (I2006M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365701	NM_015030.2(FRYL):c.5633T>A (p.Ile1878Asn)	FRYL (I1878N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342833	NM_015030.2(FRYL):c.5444A>G (p.Gln1815Arg)	FRYL (Q1815R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343774	NM_015030.2(FRYL):c.5395_5400del (p.Ser1799_Ser1800del)	FRYL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3342464	NM_015030.2(FRYL):c.4681dup (p.His1561fs)	FRYL (H1561fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342829	NM_015030.2(FRYL):c.4065del (p.Trp1356fs)	FRYL (W1356fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342940	NM_015030.2(FRYL):c.4027C>T (p.Leu1343Phe)	FRYL (L1343F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342964	NM_015030.2(FRYL):c.3441+1G>A	FRYL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1235248	NM_015030.2(FRYL):c.2232C>T (p.Ser744=)	FRYL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3342778	NM_015030.2(FRYL):c.2159T>C (p.Leu720Pro)	FRYL (L720P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342738	NM_015030.2(FRYL):c.1821del (p.Pro608fs)	FRYL (P608fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3372441	NM_015030.2(FRYL):c.1335+3A>G	FRYL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342796	NM_015030.2(FRYL):c.1246C>T (p.Gln416Ter)	FRYL (Q416*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342655	NM_015030.2(FRYL):c.1007del (p.Phe336fs)	FRYL (F336fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342664	NM_015030.2(FRYL):c.860C>G (p.Pro287Arg)	FRYL (P287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363246	NM_015030.2(FRYL):c.785A>C (p.Lys262Thr)	FRYL (K262T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342576	NM_015030.2(FRYL):c.411+1G>C	FRYL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 151678	GRCh38/hg38 4p11(chr4:48744719-48763015)x1	FRYL	Copy number loss	See cases	GLikely benign
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
Select item 3360117	NM_015030.2(FRYL):c.1615A>G (p.Asn539Asp)	FRYL (N539D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 32