"Baylor Genetics"[submitter] AND "TH2-LCR"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678148	NM_005732.4(RAD50):c.3429C>G (p.Ile1143Met)	TH2LCRR, RAD50 +1 more (I1143M)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 480476	NM_005732.4(RAD50):c.3437T>C (p.Ile1146Thr)	RAD50, TH2-LCR +1 more (I1146T)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 482149	NM_005732.4(RAD50):c.3476del (p.Asp1159fs)	RAD50, TH2-LCR +1 more (D1159fs)	Deletion (frameshift variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 142598	NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)	TH2LCRR, RAD50 +1 more (R1166W)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 230386	NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu)	RAD50, TH2-LCR +1 more (R1166L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37378	NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn)	RAD50, TH2-LCR +1 more (D1170N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230332	NM_005732.4(RAD50):c.3514A>T (p.Asn1172Tyr)	TH2-LCR, TH2LCRR +1 more (N1172Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 480390	NM_005732.4(RAD50):c.3538C>T (p.Arg1180Trp)	TH2-LCR, TH2LCRR +1 more (R1180W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 527386	NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln)	RAD50, TH2-LCR +1 more (R1180Q)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +2 more	GUncertain significance
Select item 216097	NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter)	TH2LCRR, RAD50 +1 more (R1185*)	Single nucleotide variant (nonsense +1 more)	Nijmegen breakage syndrome-like disorder +2 more	GPathogenic
Select item 2678164	NM_005732.4(RAD50):c.3564dup (p.Leu1189fs)	RAD50, TH2-LCR +1 more (L1189fs)	Duplication (frameshift variant +1 more)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 2678150	NM_005732.4(RAD50):c.3565C>G (p.Leu1189Val)	RAD50, TH2-LCR +1 more (L1189V)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder	GUncertain significance
Select item 486234	NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)	TH2LCRR, RAD50 +1 more (R1198*)	Single nucleotide variant (nonsense +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 140973	NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln)	RAD50, TH2-LCR +1 more (R1198Q)	Single nucleotide variant (missense variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 184879	NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)	RAD50, TH2-LCR +1 more (R1200*)	Single nucleotide variant (nonsense +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 408396	NM_005732.4(RAD50):c.3612_3618+5del	RAD50, TH2-LCR +1 more	Deletion (non-coding transcript variant +1 more)	Nijmegen breakage syndrome-like disorder +1 more	GLikely pathogenic
Select item 408358	NM_005732.4(RAD50):c.3625G>A (p.Ala1209Thr)	RAD50, TH2-LCR +1 more (A1209T)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 408382	NM_005732.4(RAD50):c.3641G>A (p.Arg1214His)	RAD50, TH2-LCR +1 more (R1214H)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 186088	NM_005732.4(RAD50):c.3641G>T (p.Arg1214Leu)	TH2LCRR, RAD50 +1 more (R1214L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 961102	NM_005732.4(RAD50):c.3655G>T (p.Glu1219Ter)	RAD50, TH2-LCR +1 more (E1219*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +1 more	GPathogenic
Select item 240240	NM_005732.4(RAD50):c.3697C>A (p.Pro1233Thr)	RAD50, TH2-LCR +1 more (P1233T)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 230785	NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter)	RAD50, TH2-LCR +1 more (R1239*)	Single nucleotide variant (nonsense)	Nijmegen breakage syndrome-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 140979	NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln)	RAD50, TH2-LCR +1 more (R1239Q)	Single nucleotide variant (missense variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 2678155	NM_005732.4(RAD50):c.3752+1G>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice donor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 480449	NM_005732.4(RAD50):c.3753-3C>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (intron variant)	Nijmegen breakage syndrome-like disorder +1 more	GUncertain significance
Select item 2678147	NM_005732.4(RAD50):c.3753-2A>G	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder	GLikely pathogenic
Select item 457468	NM_005732.4(RAD50):c.3753-1G>A	RAD50, TH2-LCR +1 more	Single nucleotide variant (splice acceptor variant)	Nijmegen breakage syndrome-like disorder +1 more	GLikely pathogenic
Select item 186665	NM_005732.4(RAD50):c.3767G>A (p.Arg1256His)	TH2LCRR, TH2-LCR +1 more (R1256H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 183984	NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)	RAD50, TH2-LCR +1 more (S1257A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 29