ClinVar for Gene (Select 9659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3064028	NM_001395426.1(PDE4DIP):c.835-7552A>C	PDE4DIP (I108L)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3024762	NM_001395426.1(PDE4DIP):c.3931G>A (p.Ala1311Thr)	PDE4DIP (A1201T +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2791670	NM_001395426.1(PDE4DIP):c.1877G>A (p.Trp626Ter)	PDE4DIP (W660* +8 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2639079	NM_001395426.1(PDE4DIP):c.835-7448G>A	PDE4DIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639078	NM_001395426.1(PDE4DIP):c.835-7142T>G	PDE4DIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639077	NM_001395426.1(PDE4DIP):c.835-6995C>T	PDE4DIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639076	NM_001395426.1(PDE4DIP):c.1128A>C (p.Thr376=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639075	NM_001395426.1(PDE4DIP):c.1317A>G (p.Lys439=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639074	NM_001395426.1(PDE4DIP):c.1350C>T (p.His450=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639073	NM_001395426.1(PDE4DIP):c.1371G>A (p.Glu457=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639072	NM_001395426.1(PDE4DIP):c.2031G>A (p.Glu677=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639071	NM_001395426.1(PDE4DIP):c.3093T>C (p.Ser1031=)	LOC126088083, PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639070	NM_001395426.1(PDE4DIP):c.3816G>A (p.Ala1272=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639069	NM_001395426.1(PDE4DIP):c.4317A>G (p.Gln1439=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639068	NM_001395426.1(PDE4DIP):c.6162G>C (p.Leu2054=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639067	NM_001395426.1(PDE4DIP):c.6675C>A (p.Thr2225=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1809273	GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1711137	GRCh37/hg19 1q21.1(chr1:144893419-144937891)x1	PDE4DIP	Copy number loss	See cases	GPathogenic
Select item 1704315	GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	ANKRD34A, ANKRD35 +16 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1174537	NM_001395426.1(PDE4DIP):c.4630A>G (p.Ile1544Val)	PDE4DIP (I1433V +12 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1174536	NM_001395426.1(PDE4DIP):c.5753G>A (p.Arg1918Gln)	PDE4DIP (R1745Q +14 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1174535	NM_001395426.1(PDE4DIP):c.3874C>T (p.Arg1292Cys)	PDE4DIP (R1182C +8 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1174534	NM_001395426.1(PDE4DIP):c.835-7507G>A	PDE4DIP (A123T)	Single nucleotide variant (intron variant +1 more)	See cases	GPathogenic
Select item 1050419	NM_001395426.1(PDE4DIP):c.*8C>T	PDE4DIP	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980948	GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3	ACP6, ANKRD34A +27 more	Copy number gain	not provided	GPathogenic
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814123	GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3	ACP6, ANKRD34A +32 more	Copy number gain	not provided	GPathogenic
Select item 814122	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814121	GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1	ACP6, ANKRD34A +27 more	Copy number loss	not provided	GPathogenic
Select item 814120	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 769527	NM_001395426.1(PDE4DIP):c.1303C>T (p.Leu435=)	PDE4DIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769243	NM_001395426.1(PDE4DIP):c.1082G>A (p.Arg361His)	PDE4DIP (R295H +8 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767696	NM_001395426.1(PDE4DIP):c.835-7626T>A	PDE4DIP (L83Q)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 767695	NM_001395426.1(PDE4DIP):c.835-7252A>G	PDE4DIP (T208A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767694	NM_001395426.1(PDE4DIP):c.835-16_835-3del	PDE4DIP	Deletion (intron variant)	not provided	GBenign
Select item 688523	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 688182	GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 687903	GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	not provided	GUncertain significance
Select item 687620	GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3	ACP6, ANKRD34A +33 more	Copy number gain	not provided	GPathogenic
Select item 685637	GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 625536	GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)	ACP6, ANKRD34A +27 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 565151	GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1	ACP6, ANKRD34A +27 more	Copy number loss	not provided	GPathogenic
Select item 565150	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1	ACP6, ANKRD34A +29 more	Copy number loss	not provided	GPathogenic
Select item 565149	GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 565148	GRCh37/hg19 1q21.1(chr1:144823069-145888926)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
Select item 565147	GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3	ACP6, ANKRD34A +28 more	Copy number gain	not provided	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 524186	t(1;3)(q21.1;p11.1)dn	EPHA3, PDE4DIP	Translocation	not specified	GUncertain significance
Select item 443873	GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	See cases	GPathogenic
Select item 443524	GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1	ACP6, ANKRD34A +33 more	Copy number loss	See cases	GPathogenic
Select item 443387	GRCh37/hg19 1q21.1(chr1:144823069-145770627)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	See cases	GUncertain significance
Select item 443334	GRCh37/hg19 1q21.1(chr1:144959474-146030329)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	See cases	GUncertain significance
Select item 443216	GRCh37/hg19 1q21.1(chr1:144952424-145280542)x1	NOTCH2NLA, PDE4DIP	Copy number loss	See cases	GLikely benign
Select item 442880	GRCh37/hg19 1q21.1(chr1:144823069-145809279)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442299	GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1	ACP6, ANKRD34A +31 more	Copy number loss	See cases	GPathogenic
Select item 442015	GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3	ACP6, ANKRD34A +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 403294	NM_001395426.1(PDE4DIP):c.927del (p.Glu309fs)	PDE4DIP (E309fs +8 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 403293	NM_001395426.1(PDE4DIP):c.*68G>A	PDE4DIP (W2351* +11 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 395692	GRCh37/hg19 1q21.1(chr1:144955198-145079786)x1	PDE4DIP	Copy number loss	See cases	GBenign
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 253886	GRCh37/hg19 1q21.1(chr1:144674799-145735385)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	See cases	GUncertain significance
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 253437	GRCh37/hg19 1q21.1(chr1:144709677-145735385)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221782	GRCh37/hg19 1q21.1(chr1:145020771-145640129)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	Premature ovarian failure	GBenign
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 155702	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 155421	GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4	ACP6, BCL9 +67 more	Copy number gain	See cases	GPathogenic
Select item 155305	GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 153963	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153883	GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 153881	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153651	GRCh37/hg19 1q21.1(chr1:144823069-145377277)x3	NBPF10, NBPF9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 153571	GRCh37/hg19 1q21.1(chr1:144887739-145829474)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	See cases	GUncertain significance
Select item 153337	GRCh37/hg19 1q21.1(chr1:144823069-145376074)x3	NBPF10, NBPF9 +2 more	Copy number gain	See cases	GUncertain significance
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	CD160, ACP6 +177 more	Copy number loss	See cases	GPathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 151319	GRCh37/hg19 1q21.1(chr1:144955198-145831720)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931342, LOC129931343 +182 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic

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