CDKN1A[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 773195	NM_000389.5(CDKN1A):c.11C>T (p.Pro4Leu)	CDKN1A (P4L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736380	NM_000389.5(CDKN1A):c.12G>A (p.Pro4=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3341812	NM_000389.5(CDKN1A):c.27T>C (p.Arg9=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327667	NM_000389.5(CDKN1A):c.59G>A (p.Arg20His)	CDKN1A (R54H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288634	NM_000389.5(CDKN1A):c.74T>G (p.Val25Gly)	CDKN1A (V25G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026303	NM_000389.5(CDKN1A):c.81C>T (p.Ser27=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656516	NM_000389.5(CDKN1A):c.93C>T (p.Ser31=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 17565	NM_000389.5(CDKN1A):c.93C>A (p.Ser31Arg)	CDKN1A (S31R +2 more)	Single nucleotide variant (missense variant)	CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1	GBenign
Select item 2582285	NM_000389.5(CDKN1A):c.142C>T (p.Arg48Ter)	CDKN1A (R48* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of urinary bladder	GPathogenic
Select item 3265537	NM_000389.5(CDKN1A):c.143G>A (p.Arg48Gln)	CDKN1A (R82Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677300	NM_000389.5(CDKN1A):c.146G>C (p.Trp49Ser)	CDKN1A (W49S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141642	NM_000389.5(CDKN1A):c.154G>A (p.Asp52Asn)	CDKN1A (D65N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677301	NM_000389.5(CDKN1A):c.154G>C (p.Asp52His)	CDKN1A (D52H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656517	NM_000389.5(CDKN1A):c.165C>T (p.Thr55=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582279	NM_000389.5(CDKN1A):c.195_196delinsAA (p.Trp65_Glu66delinsTer)	CDKN1A	Indel (nonsense)	Malignant tumor of urinary bladder	GUncertain significance
Select item 2656518	NM_000389.5(CDKN1A):c.240G>C (p.Thr80=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790317	NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln)	CDKN1A (R97Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206063	NM_000389.5(CDKN1A):c.273A>T (p.Gly91=)	CDKN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141643	NM_000389.5(CDKN1A):c.328C>G (p.His110Asp)	CDKN1A (H144D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 430358	NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)	CDKN1A (C117Y +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 692206	NM_000389.5(CDKN1A):c.446-3C>G	CDKN1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2656519	NM_000389.5(CDKN1A):c.462A>G (p.Lys154=)	CDKN1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 32