"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "XK"[gen - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1573329	NM_021083.4(XK):c.57G>C (p.Thr19=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2159928	NM_021083.4(XK):c.71T>A (p.Leu24Gln)	XK (L24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096700	NM_021083.4(XK):c.108G>T (p.Trp36Cys)	XK (W36C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 695327	NM_021083.4(XK):c.150C>T (p.Leu50=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2097593	NM_021083.4(XK):c.171C>G (p.Phe57Leu)	XK (F57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715048	NM_021083.4(XK):c.176A>G (p.His59Arg)	XK (H59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091742	NM_021083.4(XK):c.204C>T (p.Leu68=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954470	NM_021083.4(XK):c.205G>T (p.Val69Leu)	XK (V69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178930	NM_021083.4(XK):c.228A>G (p.Gln76=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695229	NM_021083.4(XK):c.243C>G (p.Phe81Leu)	XK (F81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981232	NM_021083.4(XK):c.246-8G>C	XK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012050	NM_021083.4(XK):c.297T>A (p.Pro99=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985594	NM_021083.4(XK):c.303C>T (p.Val101=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303649	NM_021083.4(XK):c.343T>C (p.Ser115Pro)	XK (S115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892420	NM_021083.4(XK):c.405G>A (p.Ala135=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970168	NM_021083.4(XK):c.412C>T (p.Arg138Trp)	XK (R138W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941252	NM_021083.4(XK):c.417G>A (p.Ala139=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744635	NM_021083.4(XK):c.417G>T (p.Ala139=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918663	NM_021083.4(XK):c.420G>A (p.Ser140=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746966	NM_021083.4(XK):c.450C>G (p.Pro150=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742021	NM_021083.4(XK):c.492C>T (p.Asp164=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1057784	NM_021083.4(XK):c.554T>C (p.Leu185Ser)	XK (L185S)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome +1 more	GUncertain significance
Select item 2789697	NM_021083.4(XK):c.613C>T (p.Pro205Ser)	XK (P205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799158	NM_021083.4(XK):c.617T>C (p.Leu206Pro)	XK (L206P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2106266	NM_021083.4(XK):c.657T>C (p.Ile219=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300237	NM_021083.4(XK):c.664C>G (p.Arg222Gly)	XK (R222G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985052	NM_021083.4(XK):c.705C>A (p.Thr235=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118538	NM_021083.4(XK):c.723A>G (p.Ile241Met)	XK (I241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363981	NM_021083.4(XK):c.731A>G (p.Asn244Ser)	XK (N244S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933407	NM_021083.4(XK):c.732C>T (p.Asn244=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892436	NM_021083.4(XK):c.765C>G (p.Leu255=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750463	NM_021083.4(XK):c.765C>T (p.Leu255=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507382	NM_021083.4(XK):c.856_860del (p.Leu286fs)	XK (L286fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2139092	NM_021083.4(XK):c.1019C>A (p.Thr340Asn)	XK (T340N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 695682	NM_021083.4(XK):c.1108T>G (p.Tyr370Asp)	XK (Y370D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2870079	NM_021083.4(XK):c.1190G>A (p.Trp397Ter)	XK (W397*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2098998	NM_021083.4(XK):c.1215T>C (p.Cys405=)	XK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 695501	NM_021083.4(XK):c.1221G>A (p.Pro407=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2178446	NM_021083.4(XK):c.1243T>G (p.Ser415Ala)	XK (S415A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2891050	NM_021083.4(XK):c.1308G>A (p.Leu436=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2037585	NM_021083.4(XK):c.1332T>C (p.Ala444=)	XK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2423023	NC_000023.10:g.(?_37545215)_(37664441_?)del	CYBB, XK	Deletion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 2423022	NC_000023.10:g.(?_37545215)_(37670170_?)del	CYBB, XK	Deletion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 1076887	NC_000023.10:g.(?_37545215)_(38280335_?)del	DYNLT3, CYBB +6 more	Deletion	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 1055977	NC_000023.10:g.(?_37545209)_(38186626_?)dup	XK, CYBB +5 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +28 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic

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Items: 46