595[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 3358898	NM_053056.3(CCND1):c.76C>T (p.Arg26Trp)	CCND1 (R26W)	Single nucleotide variant (missense variant)	Congenital long QT syndrome	GUncertain significance
Select item 3257949	NM_053056.3(CCND1):c.136A>G (p.Lys46Glu)	CCND1 (K46E)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 761360	NM_053056.3(CCND1):c.180C>G (p.Val60=)	CCND1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581321	NM_053056.3(CCND1):c.387_392delinsGGAG (p.Asp129fs)	CCND1, LOC130006292 (D129fs)	Indel (frameshift variant)	not specified	GUncertain significance
Select item 1286069	NM_053056.3(CCND1):c.415-170G>C	CCND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3139896	NM_053056.3(CCND1):c.557T>C (p.Val186Ala)	CCND1 (V186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610543	NM_053056.3(CCND1):c.560C>T (p.Ala187Val)	CCND1 (A187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489951	NM_053056.3(CCND1):c.569C>T (p.Ala190Val)	CCND1 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227388	NM_053056.3(CCND1):c.575-120G>A	CCND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3264539	NM_053056.3(CCND1):c.643C>G (p.Leu215Val)	CCND1 (L215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034107	NM_053056.3(CCND1):c.649C>T (p.Leu217=)	CCND1	Single nucleotide variant (synonymous variant)	CCND1-related disorder	GLikely benign
Select item 1250573	NM_053056.3(CCND1):c.669C>T (p.Phe223=)	CCND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3139897	NM_053056.3(CCND1):c.689C>T (p.Thr230Ile)	CCND1 (T230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299476	NM_053056.3(CCND1):c.691C>G (p.Arg231Gly)	CCND1 (R231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050562	NM_053056.3(CCND1):c.714G>A (p.Lys238=)	CCND1	Single nucleotide variant (synonymous variant)	CCND1-related disorder	GLikely benign
Select item 13755	NM_053056.3(CCND1):c.723G>A (p.Pro241=)	CCND1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241350	NM_053056.3(CCND1):c.724-205A>G	CCND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283485	NM_053056.3(CCND1):c.724-26A>G	CCND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 736722	NM_053056.3(CCND1):c.735G>A (p.Arg245=)	CCND1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2554042	NM_053056.3(CCND1):c.753C>G (p.Ile251Met)	CCND1 (I251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297468	NM_053056.3(CCND1):c.785C>T (p.Ala262Val)	CCND1 (A262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391496	NM_053056.3(CCND1):c.800A>G (p.Asp267Gly)	CCND1 (D267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038710	NM_053056.3(CCND1):c.827AGG[4] (p.Glu280del)	CCND1 (E280del)	Microsatellite (inframe_indel +1 more)	CCND1-related disorder	GLikely benign
Select item 2341922	NM_053056.3(CCND1):c.868G>A (p.Val290Met)	CCND1 (V290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232882	NM_053056.3(CCND1):c.*65C>A	CCND1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2642049	NM_053056.3(CCND1):c.*771C>T	CCND1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340992	GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	ANO1, CCND1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1340503	GRCh37/hg19 11q13.3(chr11:69233407-69475789)x3	CCND1	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 36