"GeneDx"[submitter] AND "FLVCR2-AS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 58332	GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3	BATF, ERG28 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1211844	NC_000014.9:g.75578407G>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 314403	NM_017791.2(FLVCR2):c.-356G>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 314404	NM_017791.3(FLVCR2):c.-121CT[1]	FLVCR2, FLVCR2-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 314405	NM_017791.3(FLVCR2):c.-111T>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign/Likely benign
Select item 314406	NM_017791.3(FLVCR2):c.-96T>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 314407	NM_017791.3(FLVCR2):c.-71C>T	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 95818	NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	FLVCR2, FLVCR2-AS1 (V16A)	Single nucleotide variant (non-coding transcript variant +1 more)	Fowler syndrome +3 more	GBenign
Select item 770428	NM_017791.3(FLVCR2):c.84GGTCCATCCCAGCGTCTC[1] (p.29VHPSVS[1])	FLVCR2, FLVCR2-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 95817	NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 95819	NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	FLVCR2-AS1, FLVCR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 1305414	NM_017791.3(FLVCR2):c.580A>G (p.Ile194Val)	FLVCR2, FLVCR2-AS1 (I194V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance