"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NLRC5"[ - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 725690	NM_001384950.1(NLRC5):c.1143C>T (p.Ser381=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712627	NM_001384950.1(NLRC5):c.1212G>A (p.Ala404=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717420	NM_001384950.1(NLRC5):c.1281G>T (p.Gln427His)	NLRC5 (Q427H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 727634	NM_001384950.1(NLRC5):c.2538G>A (p.Thr846=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717421	NM_001384950.1(NLRC5):c.2772G>A (p.Ala924=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 726104	NM_001384950.1(NLRC5):c.3311G>A (p.Arg1104His)	NLRC5 (R1104H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 728890	NM_001384950.1(NLRC5):c.3339-3C>A	NLRC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723098	NM_001384950.1(NLRC5):c.4080G>C (p.Gln1360His)	LOC126862362, NLRC5 (Q1331H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 718206	NM_001384950.1(NLRC5):c.4896G>A (p.Gly1632=)	NLRC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778610	NM_001384950.1(NLRC5):c.5237+6T>C	NLRC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic