"GeneDx"[submitter] AND "LOC130058203"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 671621	NM_005262.2(GFER):c.-250C>G	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 1179949	NC_000016.10:g.1984018_1984019insCCGCCCCGGCC	GFER, LOC130058203	Insertion	not provided	GBenign
Select item 673702	NM_005262.2(GFER):c.-150G>A	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 671622	NM_005262.2(GFER):c.-83C>T	GFER, LOC130058203	Single nucleotide variant	not provided	GBenign
Select item 673651	NM_005262.2(GFER):c.-75C>G	GFER, LOC130058203	Single nucleotide variant	not provided	GLikely benign
Select item 509455	NM_005262.2(GFER):c.-55_-44delGACCTGGAGGCT	GFER, LOC130058203	Deletion	not specified	GLikely benign
Select item 515762	NM_005262.3(GFER):c.12C>T (p.Pro4=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 214468	NM_005262.3(GFER):c.14G>C (p.Gly5Ala)	GFER, LOC130058203 (G5A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214469	NM_005262.3(GFER):c.57G>C (p.Pro19=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2429532	NM_005262.3(GFER):c.68G>C (p.Arg23Pro)	GFER, LOC130058203 (R23P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710604	NM_005262.3(GFER):c.173A>G (p.Asp58Gly)	GFER, LOC130058203 (D58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214476	NM_005262.3(GFER):c.199del (p.Arg67fs)	GFER, LOC130058203 (R67fs)	Deletion (frameshift variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1339637	NM_005262.3(GFER):c.216G>A (p.Arg72=)	GFER, LOC130058203	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3365870	NM_005262.3(GFER):c.217G>T (p.Ala73Ser)	GFER, LOC130058203 (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214475	NM_005262.3(GFER):c.245G>A (p.Arg82Gln)	GFER, LOC130058203 (R82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance