"GeneDx"[submitter] AND "LOC126862402"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 60023	GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	ADAT1, CNTNAP4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 228757	NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)	KARS1, LOC126862402 (I523M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504855	NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser)	KARS1, LOC126862402 (T511S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 320631	NM_005548.3(KARS1):c.1425-13C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214306	NM_005548.3(KARS1):c.1425-31T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228531	NM_005548.3(KARS1):c.1424+253C>G	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195083	NM_005548.3(KARS1):c.1424+246T>C	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218386	NM_005548.3(KARS1):c.1424+49G>A	LOC126862402, KARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200128	NM_005548.3(KARS1):c.1424+34C>T	KARS1, LOC126862402	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680870	NM_005548.3(KARS1):c.1380A>C (p.Thr460=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735418	NM_005548.3(KARS1):c.1368C>T (p.Cys456=)	KARS1, LOC126862402	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576867	NM_005548.3(KARS1):c.1367G>A (p.Cys456Tyr)	KARS1, LOC126862402 (C300Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255079	NM_005548.3(KARS1):c.1339-143TAA[7]	KARS1, LOC126862402	Microsatellite (intron variant)	not provided	GBenign