"GeneDx"[submitter] AND "LOC130064775"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 1327792	NC_000019.10:g.46746008C>G	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181076	NC_000019.10:g.46746021G>A	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270326	NC_000019.10:g.46746039G>C	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190029	NC_000019.10:g.46746040C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420683	NM_024301.5(FKRP):c.-272GGC[8]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 518044	NM_024301.5(FKRP):c.-272GGC[3]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516899	NM_024301.5(FKRP):c.-253+5GGCCG[5]	FKRP, LOC130064775 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 3363381	NM_024301.5(FKRP):c.-253+5G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 509026	NM_024301.5(FKRP):c.-253+9G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390494	NM_024301.5(FKRP):c.-253+14G>A	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign