"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KDM6B"[ - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, KDM6B +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 2134332	NM_001348716.2(KDM6B):c.37G>T (p.Ala13Ser)	KDM6B (A13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744294	NM_001348716.2(KDM6B):c.138-8C>G	KDM6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781252	NM_001348716.2(KDM6B):c.165G>A (p.Pro55=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741399	NM_001348716.2(KDM6B):c.183C>T (p.Pro61=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749446	NM_001348716.2(KDM6B):c.261T>C (p.His87=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 623266	NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter)	KDM6B (R149*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 748841	NM_001348716.2(KDM6B):c.522G>A (p.Glu174=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754856	NM_001348716.2(KDM6B):c.588G>A (p.Pro196=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709281	NM_001348716.2(KDM6B):c.595C>T (p.Arg199Ter)	KDM6B (R199*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225024	NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu)	KDM6B (V209L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725485	NM_001348716.2(KDM6B):c.910-7C>T	KDM6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729200	NM_001348716.2(KDM6B):c.1146C>T (p.Cys382=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717430	NM_001348716.2(KDM6B):c.1157C>T (p.Ala386Val)	KDM6B (A386V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786303	NM_001348716.2(KDM6B):c.1302C>T (p.His434=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773063	NM_001348716.2(KDM6B):c.1407T>C (p.Pro469=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851291	NM_001348716.2(KDM6B):c.1443A>G (p.Pro481=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404677	NM_001348716.2(KDM6B):c.1537C>G (p.Arg513Gly)	KDM6B (R513G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756772	NM_001348716.2(KDM6B):c.1632C>A (p.Pro544=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782897	NM_001348716.2(KDM6B):c.1660A>G (p.Ser554Gly)	KDM6B (S554G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773313	NM_001348716.2(KDM6B):c.1767C>T (p.Ser589=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728024	NM_001348716.2(KDM6B):c.1804C>T (p.Leu602=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716227	NM_001348716.2(KDM6B):c.1885C>T (p.Arg629Trp)	KDM6B (R629W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1413726	NM_001348716.2(KDM6B):c.1921G>T (p.Gly641Trp)	KDM6B (G641W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712117	NM_001348716.2(KDM6B):c.1925C>T (p.Pro642Leu)	KDM6B (P642L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 777125	NM_001348716.2(KDM6B):c.1974C>T (p.Pro658=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782898	NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del)	KDM6B	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 731641	NM_001348716.2(KDM6B):c.2276C>T (p.Thr759Ile)	KDM6B (T759I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1433453	NM_001348716.2(KDM6B):c.2378C>A (p.Pro793Gln)	KDM6B (P793Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762527	NM_001348716.2(KDM6B):c.2379A>C (p.Pro793=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743302	NM_001348716.2(KDM6B):c.2538C>T (p.Thr846=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727501	NM_001348716.2(KDM6B):c.2547G>A (p.Pro849=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730747	NM_001348716.2(KDM6B):c.2652G>A (p.Ala884=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040758	NM_001348716.2(KDM6B):c.2954G>A (p.Arg985Gln)	KDM6B (R985Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818953	NM_001348716.2(KDM6B):c.3002G>T (p.Gly1001Val)	KDM6B (G1001V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745556	NM_001348716.2(KDM6B):c.3972C>T (p.His1324=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2808914	NM_001348716.2(KDM6B):c.4039C>G (p.Leu1347Val)	KDM6B, LOC121587574 (L1347V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744601	NM_001348716.2(KDM6B):c.4165+10A>G	KDM6B, LOC121587574	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040759	NM_001348716.2(KDM6B):c.4298del (p.Tyr1432_Leu1433insTer)	KDM6B, LOC121587574	Deletion (nonsense)	not provided	GPathogenic
Select item 730936	NM_001348716.2(KDM6B):c.4539C>T (p.Pro1513=)	KDM6B, LOC121587574	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499800	NM_001348716.2(KDM6B):c.4630A>C (p.Met1544Leu)	KDM6B (M1544L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820630	NM_001348716.2(KDM6B):c.4743G>T (p.Glu1581Asp)	KDM6B (E1581D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739420	NM_001348716.2(KDM6B):c.4773G>A (p.Glu1591=)	KDM6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730937	NM_001348716.2(KDM6B):c.4908+49G>C	KDM6B (A1653P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 714855	NM_001348716.2(KDM6B):c.4909-18C>A	KDM6B (P1670T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710640	NM_001348716.2(KDM6B):c.4909-7C>T	KDM6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	CD68, ACADVL +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	ALOX12B, CHD3 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance

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Items: 53