"GeneDx"[submitter] AND "LOC126806659"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434864	NM_001904.4(CTNNB1):c.1272T>C (p.Leu424=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2442663	NM_001904.4(CTNNB1):c.1276A>G (p.Asn426Asp)	CTNNB1, LOC126806659 (N419D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499845	NM_001904.4(CTNNB1):c.1301dup (p.Asn434fs)	CTNNB1, LOC126806659 (N427fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1699567	NM_001904.4(CTNNB1):c.1312G>C (p.Val438Leu)	CTNNB1, LOC126806659 (V431L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215642	NM_001904.4(CTNNB1):c.1320A>G (p.Gln440=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 817107	NM_001904.4(CTNNB1):c.1354_1357del (p.Leu452fs)	CTNNB1, LOC126806659 (L445fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 504115	NM_001904.4(CTNNB1):c.1354_1355delinsG (p.Leu452fs)	CTNNB1, LOC126806659 (L445fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 737546	NM_001904.4(CTNNB1):c.1392C>G (p.Ala464=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2653695	NM_001904.4(CTNNB1):c.1393A>G (p.Ile465Val)	CTNNB1, LOC126806659 (I458V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328540	NM_001904.4(CTNNB1):c.1405C>T (p.Arg469Cys)	CTNNB1, LOC126806659 (R462C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559636	NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	CTNNB1, LOC126806659 (R474* +1 more)	Single nucleotide variant (nonsense)	Medulloblastoma +11 more	GPathogenic
Select item 1320994	NM_001904.4(CTNNB1):c.1423C>T (p.His475Tyr)	CTNNB1, LOC126806659 (H468Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809472	NM_001904.4(CTNNB1):c.1457G>A (p.Arg486His)	CTNNB1, LOC126806659 (R486H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343757	NM_001904.4(CTNNB1):c.1459C>T (p.Leu487Phe)	CTNNB1, LOC126806659 (L480F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499655	NM_001904.4(CTNNB1):c.1494dup (p.His499fs)	CTNNB1, LOC126806659 (H492fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1318993	NM_001904.4(CTNNB1):c.1495C>T (p.His499Tyr)	CTNNB1, LOC126806659 (H492Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338877	NM_001904.4(CTNNB1):c.1512G>A (p.Trp504Ter)	CTNNB1, LOC126806659 (W497* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 128867	NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=)	LOC126806659, CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1318830	NM_001904.4(CTNNB1):c.1528A>G (p.Thr510Ala)	LOC126806659, CTNNB1 (T503A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39655	NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	CTNNB1, LOC126806659 (R515* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 1206714	NM_001904.4(CTNNB1):c.1564G>A (p.Ala522Thr)	CTNNB1, LOC126806659 (A515T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 379783	NM_001904.4(CTNNB1):c.1580T>A (p.Leu527Ter)	CTNNB1, LOC126806659 (L527* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 133951	NM_001904.4(CTNNB1):c.1597A>G (p.Ile533Val)	CTNNB1, LOC126806659 (I533V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265085	NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	CTNNB1, LOC126806659 (R535* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 726387	NM_001904.4(CTNNB1):c.1653G>A (p.Thr551=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 423828	NM_001904.4(CTNNB1):c.1683+5G>C	LOC126806659, CTNNB1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1191651	NM_001904.4(CTNNB1):c.1683+216A>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219568	NM_001904.4(CTNNB1):c.1683+256G>A	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 28