LOC130006506[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 1294253	NM_024678.6(NARS2):c.1164+114T>C	LOC130006506, NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522878	NM_024678.6(NARS2):c.1145A>C (p.Glu382Ala)	LOC130006506, NARS2 (E155A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632572	NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	LOC130006506, NARS2 (N381S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 1691418	NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	LOC130006506, NARS2 (N154D +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 729864	NM_024678.6(NARS2):c.1132A>C (p.Met378Leu)	LOC130006506, NARS2 (M151L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2074976	NM_024678.6(NARS2):c.1131C>T (p.Tyr377=)	NARS2, LOC130006506	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919802	NM_024678.6(NARS2):c.1119C>T (p.Leu373=)	LOC130006506, NARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign