ClinVar for Gene (Select 55729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3025287	NM_018179.5(ATF7IP):c.538_567del (p.Pro180_Ala189del)	ATF7IP	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642754	NM_018179.5(ATF7IP):c.1371C>T (p.Leu457=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611483	NM_018179.5(ATF7IP):c.1775A>G (p.Asn592Ser)	ATF7IP (N591S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604830	NM_018179.5(ATF7IP):c.1735G>A (p.Ala579Thr)	ATF7IP (A578T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589988	NM_018179.5(ATF7IP):c.2296C>A (p.Gln766Lys)	ATF7IP (Q773K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568493	NM_018179.5(ATF7IP):c.2545T>C (p.Ser849Pro)	ATF7IP (S856P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568445	NM_018179.5(ATF7IP):c.2579C>T (p.Thr860Ile)	ATF7IP (T867I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550213	NM_018179.5(ATF7IP):c.464C>T (p.Thr155Ile)	ATF7IP (T155I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527983	NM_018179.5(ATF7IP):c.356C>G (p.Pro119Arg)	ATF7IP (P119R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520835	NM_018179.5(ATF7IP):c.1609G>A (p.Val537Ile)	ATF7IP (V545I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508595	NM_018179.5(ATF7IP):c.2749A>G (p.Ser917Gly)	ATF7IP (S917G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496302	NM_018179.5(ATF7IP):c.2347G>A (p.Val783Met)	ATF7IP (V783M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485074	NM_018179.5(ATF7IP):c.132A>C (p.Leu44Phe)	ATF7IP (L44F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474250	NM_018179.5(ATF7IP):c.1528G>A (p.Val510Ile)	ATF7IP (V518I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472663	NM_018179.5(ATF7IP):c.1661G>A (p.Arg554Gln)	ATF7IP (R553Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454532	NM_018179.5(ATF7IP):c.2578A>G (p.Thr860Ala)	ATF7IP (T867A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2400205	NM_018179.5(ATF7IP):c.1136T>C (p.Leu379Pro)	ATF7IP (L379P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2397049	NM_018179.5(ATF7IP):c.1535C>T (p.Ser512Leu)	ATF7IP (S520L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376387	NM_018179.5(ATF7IP):c.3563G>A (p.Arg1188Gln)	ATF7IP (R1196Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371281	NM_018179.5(ATF7IP):c.898G>C (p.Val300Leu)	ATF7IP (V300L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367394	NM_018179.5(ATF7IP):c.344A>G (p.His115Arg)	ATF7IP (H115R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320461	NM_018179.5(ATF7IP):c.913A>G (p.Asn305Asp)	ATF7IP (N305D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316805	NM_018179.5(ATF7IP):c.2570G>A (p.Arg857Lys)	ATF7IP (R856K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295083	NM_018179.5(ATF7IP):c.385C>G (p.Pro129Ala)	ATF7IP (P137A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293851	NM_018179.5(ATF7IP):c.3517A>C (p.Ser1173Arg)	ATF7IP (S1173R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286968	NM_018179.5(ATF7IP):c.948T>A (p.Phe316Leu)	ATF7IP (F324L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283271	NM_018179.5(ATF7IP):c.569C>T (p.Thr190Ile)	ATF7IP (T190I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273123	NM_018179.5(ATF7IP):c.2562T>G (p.Ser854Arg)	ATF7IP (S862R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266162	NM_018179.5(ATF7IP):c.2761G>T (p.Ala921Ser)	ATF7IP (A921S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263292	NM_018179.5(ATF7IP):c.103G>A (p.Glu35Lys)	ATF7IP (E43K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262541	NM_018179.5(ATF7IP):c.687A>G (p.Ile229Met)	ATF7IP (I229M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262427	NM_018179.5(ATF7IP):c.2303C>T (p.Pro768Leu)	ATF7IP (P767L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261221	NM_018179.5(ATF7IP):c.2834G>A (p.Ser945Asn)	ATF7IP (S952N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2256772	NM_018179.5(ATF7IP):c.241C>T (p.Pro81Ser)	ATF7IP (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2233775	NM_018179.5(ATF7IP):c.1027A>G (p.Asn343Asp)	ATF7IP (N351D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231867	NM_018179.5(ATF7IP):c.1988G>C (p.Arg663Thr)	ATF7IP (R663T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224062	NM_018179.5(ATF7IP):c.1193A>G (p.Asn398Ser)	ATF7IP (N398S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221605	NM_018179.5(ATF7IP):c.1088G>A (p.Arg363Gln)	ATF7IP (R371Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209152	NM_018179.5(ATF7IP):c.563A>T (p.Asp188Val)	ATF7IP (D188V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 1271269	NM_018179.5(ATF7IP):c.1589A>G (p.Lys530Arg)	ATF7IP (K529R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 789215	NM_018179.5(ATF7IP):c.1505C>T (p.Ser502Leu)	ATF7IP (S502L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 788881	NM_018179.5(ATF7IP):c.2509T>C (p.Ser837Pro)	ATF7IP (S845P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788880	NM_018179.5(ATF7IP):c.1002A>T (p.Ser334=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781696	NM_018179.5(ATF7IP):c.439G>A (p.Gly147Arg)	ATF7IP (G155R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 781066	NM_018179.5(ATF7IP):c.2201G>A (p.Ser734Asn)	ATF7IP (S733N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773021	NM_018179.5(ATF7IP):c.445C>T (p.Leu149=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 749401	NM_018179.5(ATF7IP):c.1586A>G (p.Asn529Ser)	ATF7IP (N528S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746879	NM_018179.5(ATF7IP):c.3205G>A (p.Ala1069Thr)	ATF7IP (A1068T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 737684	NM_018179.5(ATF7IP):c.416T>G (p.Leu139Arg)	ATF7IP (L147R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 723030	NM_018179.5(ATF7IP):c.2361A>G (p.Val787=)	ATF7IP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713552	NM_018179.5(ATF7IP):c.1719G>C (p.Met573Ile)	ATF7IP (M572I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443436	GRCh37/hg19 12p13.1-12.3(chr12:14269084-14855982)x1	ATF7IP, GUCY2C +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

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