"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NELFA"[ - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 793397	NM_005663.5(NELFA):c.1362C>T (p.Pro454=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710318	NM_005663.5(NELFA):c.1335C>T (p.Phe445=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788777	NM_005663.5(NELFA):c.1290C>T (p.Asn430=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720183	NM_005663.5(NELFA):c.1251G>A (p.Pro417=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771140	NM_005663.5(NELFA):c.1209C>T (p.Val403=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734593	NM_005663.5(NELFA):c.1170G>A (p.Ala390=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734801	NM_005663.5(NELFA):c.1160C>T (p.Thr387Met)	NELFA (T387M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722458	NM_005663.5(NELFA):c.1104G>A (p.Ala368=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750368	NM_005663.5(NELFA):c.1080C>T (p.Ser360=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787171	NM_005663.5(NELFA):c.1023C>T (p.Ser341=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732754	NM_005663.5(NELFA):c.1012A>G (p.Ile338Val)	NELFA (I338V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721255	NM_005663.5(NELFA):c.1003T>G (p.Ser335Ala)	NELFA (S335A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789469	NM_005663.5(NELFA):c.1000G>A (p.Ala334Thr)	NELFA (A334T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728507	NM_005663.5(NELFA):c.966G>A (p.Thr322=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709406	NM_005663.5(NELFA):c.925-10dup	NELFA	Duplication (intron variant)	not provided	GBenign
Select item 720327	NM_005663.5(NELFA):c.924+10G>A	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756264	NM_005663.5(NELFA):c.906C>T (p.Ala302=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742126	NM_005663.5(NELFA):c.891C>T (p.Thr297=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734594	NM_005663.5(NELFA):c.798C>T (p.Gly266=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762292	NM_005663.5(NELFA):c.681G>A (p.Thr227=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744568	NM_005663.5(NELFA):c.672A>G (p.Arg224=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718432	NM_005663.5(NELFA):c.661G>C (p.Ala221Pro)	NELFA (A221P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745322	NM_005663.5(NELFA):c.648C>T (p.Gly216=)	MIR943, NELFA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 718995	NM_005663.5(NELFA):c.645A>G (p.Lys215=)	MIR943, NELFA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 720328	NM_005663.5(NELFA):c.588C>A (p.Pro196=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718851	NM_005663.5(NELFA):c.528G>A (p.Ala176=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750082	NM_005663.5(NELFA):c.477G>A (p.Pro159=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717075	NM_005663.5(NELFA):c.441C>T (p.Asn147=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728737	NM_005663.5(NELFA):c.399G>A (p.Ala133=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725054	NM_005663.5(NELFA):c.383-6C>T	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761394	NM_005663.5(NELFA):c.383-10T>G	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722052	NM_005663.5(NELFA):c.315G>A (p.Ser105=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719091	NM_005663.5(NELFA):c.309A>C (p.Thr103=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753115	NM_005663.5(NELFA):c.282C>T (p.Ala94=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741181	NM_005663.5(NELFA):c.279C>T (p.Val93=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748442	NM_005663.5(NELFA):c.211-4G>C	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798933	NM_005663.5(NELFA):c.150G>C (p.Ser50=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740659	NM_005663.5(NELFA):c.75G>A (p.Ala25=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759147	NM_005663.5(NELFA):c.24C>T (p.Asp8=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	DOK7, FAM193A +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1075075	NC_000004.11:g.(?_1619775)_(2181192_?)del	FAM53A, FGFR3 +9 more	Deletion	not provided	GPathogenic

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Items: 45