56259[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2652305	NM_030877.5(CTNNBL1):c.53C>T (p.Pro18Leu)	CTNNBL1 (P18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2249983	NM_030877.5(CTNNBL1):c.122A>G (p.Tyr41Cys)	CTNNBL1 (Y14C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320572	NM_030877.5(CTNNBL1):c.298C>T (p.Arg100Trp)	CTNNBL1 (R100W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078657	NM_030877.5(CTNNBL1):c.356A>G (p.Asp119Gly)	CTNNBL1 (D119G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078658	NM_030877.5(CTNNBL1):c.371T>C (p.Met124Thr)	CTNNBL1 (M97T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687972	NM_030877.5(CTNNBL1):c.466+62T>C	CTNNBL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 725816	NM_030877.5(CTNNBL1):c.733C>G (p.Leu245Val)	CTNNBL1 (L218V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3078659	NM_030877.5(CTNNBL1):c.818A>G (p.Asn273Ser)	CTNNBL1 (N246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249109	NM_030877.5(CTNNBL1):c.1078G>A (p.Ala360Thr)	CTNNBL1 (A360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217344	NM_030877.5(CTNNBL1):c.1144A>G (p.Ile382Val)	CTNNBL1 (I382V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358672	NM_030877.5(CTNNBL1):c.1176G>T (p.Lys392Asn)	CTNNBL1 (K392N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078653	NM_030877.5(CTNNBL1):c.1204G>A (p.Glu402Lys)	CTNNBL1 (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524227	NM_030877.5(CTNNBL1):c.1247G>A (p.Arg416Gln)	CTNNBL1 (R389Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068776	NM_030877.5(CTNNBL1):c.1281del (p.Asn428fs)	CTNNBL1 (N401fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2401241	NM_030877.5(CTNNBL1):c.1351G>A (p.Ala451Thr)	CTNNBL1 (A451T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652306	NM_030877.5(CTNNBL1):c.1353A>G (p.Ala451=)	CTNNBL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652307	NM_030877.5(CTNNBL1):c.1365G>A (p.Ala455=)	CTNNBL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686824	NM_030877.5(CTNNBL1):c.1396A>G (p.Met466Val)	CTNNBL1 (M466V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	GPathogenic
Select item 2362383	NM_030877.5(CTNNBL1):c.1424A>G (p.Asn475Ser)	CTNNBL1 (N448S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596940	NM_030877.5(CTNNBL1):c.1445A>G (p.Tyr482Cys)	CTNNBL1 (Y455C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411810	NM_030877.5(CTNNBL1):c.1529A>T (p.Gln510Leu)	CTNNBL1 (Q510L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538414	NM_030877.5(CTNNBL1):c.1534C>T (p.Arg512Cys)	CTNNBL1 (R485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078655	NM_030877.5(CTNNBL1):c.1585G>A (p.Val529Ile)	CTNNBL1 (V502I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396598	NM_030877.5(CTNNBL1):c.1592A>G (p.His531Arg)	CTNNBL1 (H504R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688114	NM_030877.5(CTNNBL1):c.1604-14C>A	CTNNBL1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2325209	NM_030877.5(CTNNBL1):c.1637C>G (p.Pro546Arg)	CTNNBL1 (P519R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652308	NM_030877.5(CTNNBL1):c.1653C>T (p.Asn551=)	CTNNBL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078656	NM_030877.5(CTNNBL1):c.1666A>G (p.Ile556Val)	CTNNBL1 (I556V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685645	GRCh37/hg19 20q11.23(chr20:36112920-36787057)x1	BLCAP, CTNNBL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 36