"GeneDx"[submitter] AND "LOC126806658"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191640	NM_001904.4(CTNNB1):c.14-10G>A	LOC126806658, CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128866	NM_001904.4(CTNNB1):c.14-4A>G	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1203312	NM_001904.4(CTNNB1):c.81A>G (p.Gln27=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718025	NM_001904.4(CTNNB1):c.84G>T (p.Gln28His)	CTNNB1, LOC126806658 (Q21H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428455	NM_001904.4(CTNNB1):c.152A>G (p.Asn51Ser)	CTNNB1, LOC126806658 (N44S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579504	NM_001904.4(CTNNB1):c.176C>T (p.Thr59Ile)	CTNNB1, LOC126806658 (T52I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280325	NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)	LOC126806658, CTNNB1 (W66* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817214	NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)	CTNNB1, LOC126806658 (S64fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1328568	NM_001904.4(CTNNB1):c.245T>C (p.Ile82Thr)	CTNNB1, LOC126806658 (I75T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 253000	NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter)	CTNNB1, LOC126806658 (R90* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 987238	NM_001904.4(CTNNB1):c.274C>T (p.Gln92Ter)	CTNNB1, LOC126806658 (Q85* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1, LOC126806658 (R95* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +9 more	GPathogenic
Select item 430017	NM_001904.4(CTNNB1):c.285_294del (p.Ala96fs)	CTNNB1, LOC126806658 (A96fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3342782	NM_001904.4(CTNNB1):c.299_300del (p.Pro100fs)	CTNNB1, LOC126806658 (P100fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 451713	NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter)	CTNNB1, LOC126806658 (Q113* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1196551	NM_001904.4(CTNNB1):c.367C>T (p.Gln123Ter)	CTNNB1, LOC126806658 (Q116* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1318703	NM_001904.4(CTNNB1):c.400C>G (p.His134Asp)	CTNNB1, LOC126806658 (H127D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709750	NM_001904.4(CTNNB1):c.420T>C (p.Ile140=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1205259	NM_001904.4(CTNNB1):c.452G>A (p.Arg151His)	CTNNB1, LOC126806658 (R144H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1316700	NM_001904.4(CTNNB1):c.483T>C (p.Asn161=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 210806	NM_001904.4(CTNNB1):c.486C>T (p.Asp162=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 434866	NM_001904.4(CTNNB1):c.496-7A>T	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 429772	NM_001904.4(CTNNB1):c.496-3C>G	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2497849	NM_001904.4(CTNNB1):c.499G>T (p.Val167Leu)	LOC126806658, CTNNB1 (V160L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801935	NM_001904.4(CTNNB1):c.535T>G (p.Ser179Ala)	CTNNB1, LOC126806658 (S172A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418899	NM_001904.4(CTNNB1):c.542del (p.Lys181fs)	CTNNB1, LOC126806658 (K181fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1219223	NM_001904.4(CTNNB1):c.583G>C (p.Val195Leu)	LOC126806658, CTNNB1 (V188L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1209410	NM_001904.4(CTNNB1):c.612T>C (p.Asn204=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1253716	NM_001904.4(CTNNB1):c.633T>C (p.Ala211=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 785045	NM_001904.4(CTNNB1):c.642C>T (p.Thr214=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 434863	NM_001904.4(CTNNB1):c.642C>G (p.Thr214=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1200393	NM_001904.4(CTNNB1):c.643G>A (p.Ala215Thr)	CTNNB1, LOC126806658 (A208T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252642	NM_001904.4(CTNNB1):c.653T>C (p.Leu218Ser)	CTNNB1, LOC126806658 (L211S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368556	NM_001904.4(CTNNB1):c.684A>C (p.Leu228Phe)	CTNNB1, LOC126806658 (L221F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800539	NM_001904.4(CTNNB1):c.696_698delinsAAG (p.Phe232_Lys233delinsLeuArg)	CTNNB1, LOC126806658	Indel (missense variant)	not provided	GUncertain significance
Select item 100837	NM_001904.4(CTNNB1):c.723G>A (p.Val241=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 36