29302[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 3145094	NM_020890.3(CIP2A):c.2710A>G (p.Ser904Gly)	CIP2A (S904G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267421	NM_020890.3(CIP2A):c.2602G>C (p.Glu868Gln)	CIP2A (E868Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606429	NM_020890.3(CIP2A):c.2551T>A (p.Ser851Thr)	CIP2A (S851T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145089	NM_020890.3(CIP2A):c.2486T>C (p.Ile829Thr)	CIP2A (I829T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489891	NM_020890.3(CIP2A):c.2482A>G (p.Thr828Ala)	CIP2A (T828A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145088	NM_020890.3(CIP2A):c.2417A>C (p.Gln806Pro)	CIP2A (Q806P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145087	NM_020890.3(CIP2A):c.2344G>A (p.Glu782Lys)	CIP2A (E782K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654025	NM_020890.3(CIP2A):c.2275A>G (p.Ile759Val)	CIP2A (I759V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3267426	NM_020890.3(CIP2A):c.2267A>G (p.Asn756Ser)	CIP2A (N756S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145085	NM_020890.3(CIP2A):c.2239G>C (p.Asp747His)	CIP2A (D747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529938	NM_020890.3(CIP2A):c.2148G>C (p.Lys716Asn)	CIP2A (K716N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607376	NM_020890.3(CIP2A):c.2144G>A (p.Arg715Lys)	CIP2A (R715K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538217	NM_020890.3(CIP2A):c.2102A>C (p.Glu701Ala)	CIP2A (E701A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145084	NM_020890.3(CIP2A):c.2032A>C (p.Met678Leu)	CIP2A (M678L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145082	NM_020890.3(CIP2A):c.1984C>T (p.Arg662Cys)	CIP2A (R662C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145081	NM_020890.3(CIP2A):c.1772G>A (p.Gly591Asp)	CIP2A (G591D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145080	NM_020890.3(CIP2A):c.1741A>G (p.Ile581Val)	CIP2A (I581V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145079	NM_020890.3(CIP2A):c.1728T>A (p.Ser576Arg)	CIP2A (S576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145078	NM_020890.3(CIP2A):c.1709G>C (p.Trp570Ser)	CIP2A (W570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556452	NM_020890.3(CIP2A):c.1697G>A (p.Arg566Lys)	CIP2A (R566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145077	NM_020890.3(CIP2A):c.1688A>T (p.His563Leu)	CIP2A (H563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145076	NM_020890.3(CIP2A):c.1603G>A (p.Ala535Thr)	CIP2A (A535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145075	NM_020890.3(CIP2A):c.1363T>C (p.Tyr455His)	CIP2A (Y455H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267427	NM_020890.3(CIP2A):c.1189C>T (p.Leu397Phe)	CIP2A (L397F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145073	NM_020890.3(CIP2A):c.1174A>G (p.Thr392Ala)	CIP2A (T392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654026	NM_020890.3(CIP2A):c.1114-6C>A	CIP2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2591605	NM_020890.3(CIP2A):c.1084G>A (p.Ala362Thr)	CIP2A (A362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145071	NM_020890.3(CIP2A):c.1064C>T (p.Ser355Leu)	CIP2A (S355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783312	NM_020890.3(CIP2A):c.1059C>T (p.Asp353=)	CIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492234	NM_020890.3(CIP2A):c.997A>C (p.Ser333Arg)	CIP2A (S333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145105	NM_020890.3(CIP2A):c.976C>T (p.Pro326Ser)	CIP2A (P326S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785060	NM_020890.3(CIP2A):c.941A>G (p.His314Arg)	CIP2A (H314R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3267425	NM_020890.3(CIP2A):c.846C>A (p.His282Gln)	CIP2A (H282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145104	NM_020890.3(CIP2A):c.823G>C (p.Glu275Gln)	CIP2A (E275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775891	NM_020890.3(CIP2A):c.638C>T (p.Ser213Phe)	CIP2A (S213F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145103	NM_020890.3(CIP2A):c.538A>G (p.Ile180Val)	CIP2A (I180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145102	NM_020890.3(CIP2A):c.512G>A (p.Arg171Gln)	CIP2A (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145100	NM_020890.3(CIP2A):c.511C>T (p.Arg171Trp)	CIP2A (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145099	NM_020890.3(CIP2A):c.455A>C (p.Gln152Pro)	CIP2A (Q152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145098	NM_020890.3(CIP2A):c.434C>T (p.Thr145Met)	CIP2A (T145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597228	NM_020890.3(CIP2A):c.422A>G (p.Asp141Gly)	CIP2A (D141G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267424	NM_020890.3(CIP2A):c.398T>C (p.Ile133Thr)	CIP2A (I133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145096	NM_020890.3(CIP2A):c.344C>G (p.Ser115Trp)	CIP2A (S115W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267423	NM_020890.3(CIP2A):c.325C>T (p.Arg109Trp)	CIP2A (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145095	NM_020890.3(CIP2A):c.323G>T (p.Cys108Phe)	CIP2A (C108F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542430	NM_020890.3(CIP2A):c.266C>G (p.Thr89Ser)	CIP2A (T89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145091	NM_020890.3(CIP2A):c.259A>G (p.Ile87Val)	CIP2A (I87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145090	NM_020890.3(CIP2A):c.251C>A (p.Ala84Glu)	CIP2A (A84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145086	NM_020890.3(CIP2A):c.232G>A (p.Gly78Ser)	CIP2A (G78S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145083	NM_020890.3(CIP2A):c.200A>G (p.Asn67Ser)	CIP2A (N67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518993	NM_020890.3(CIP2A):c.137C>T (p.Thr46Ile)	CIP2A (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145074	NM_020890.3(CIP2A):c.117G>C (p.Gln39His)	CIP2A (Q39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145072	NM_020890.3(CIP2A):c.113G>A (p.Gly38Glu)	CIP2A (G38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615228	NM_020890.3(CIP2A):c.77C>G (p.Ala26Gly)	CIP2A (A26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145097	NM_020890.3(CIP2A):c.34C>G (p.Leu12Val)	CIP2A (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145093	NM_020890.3(CIP2A):c.26C>T (p.Ser9Phe)	CIP2A (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 685811	GRCh37/hg19 3q13.13(chr3:107982673-108483113)x3	CIP2A, DZIP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562801	GRCh37/hg19 3q13.13(chr3:107976442-108467220)x3	HHLA2, MYH15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441867	GRCh37/hg19 3q13.13(chr3:108146914-108651271)x1	CIP2A, DZIP3 +4 more	Copy number loss	See cases	GUncertain significance
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 77