9049[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	LOC130006168, LOC130006169 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 41158	NM_003977.2(AIP):c.-1212_279+578del	AIP, LOC130006204 +3 more	Deletion (genic upstream transcript variant)	Somatotroph adenoma	GLikely pathogenic
Select item 1234779	NC_000011.10:g.67482773dup	AIP	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 424703	NM_003977.2(AIP):c.-269_270CG>AA	AIP, LOC130006204	Indel	not provided	GUncertain significance
Select item 2710182	NC_000011.10:g.67482890G>C	AIP, LOC130006204	Single nucleotide variant	not provided	GUncertain significance
Select item 2642021	NC_000011.10:g.67482897G>C	AIP, LOC130006204	Single nucleotide variant	not provided	GLikely benign
Select item 242676	NM_003977.2:c.-220G>A	AIP	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 879697	NM_003977.4(AIP):c.-85C>T	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 305719	NM_003977.4(AIP):c.-84C>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GBenign
Select item 305720	NM_003977.4(AIP):c.-23A>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GBenign
Select item 305721	NM_003977.4(AIP):c.-12C>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 3051739	NM_003977.4(AIP):c.-5G>A	AIP	Single nucleotide variant (5 prime UTR variant)	AIP-related condition	GLikely benign
Select item 41159	NM_003977.4(AIP):c.-5G>C	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	Gnot provided
Select item 824477	NM_003977.4(AIP):c.-3A>G	AIP	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798666	NM_003977.4(AIP):c.-2G>A	AIP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 305722	NM_003977.4(AIP):c.-2G>C	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 41173	NM_003977.4(AIP):c.2T>C (p.Met1Thr)	AIP (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253315	NM_003977.4(AIP):c.3G>A (p.Met1Ile)	AIP (M1I)	Single nucleotide variant (missense variant +1 more)	Familial isolated pituitary adenoma	GLikely pathogenic
Select item 41177	NM_003977.4(AIP):c.3_4insC (p.Ala2fs)	AIP (A2fs)	Insertion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 825361	NM_003977.4(AIP):c.4G>C (p.Ala2Pro)	AIP (A2P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3223620	NM_003977.4(AIP):c.5C>T (p.Ala2Val)	AIP (A2V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1750985	NM_003977.4(AIP):c.5C>G (p.Ala2Gly)	AIP (A2G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1626086	NM_003977.4(AIP):c.6G>A (p.Ala2=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1768950	NM_003977.4(AIP):c.9T>C (p.Asp3=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1515671	NM_003977.4(AIP):c.10A>G (p.Ile4Val)	AIP (I4V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1020574	NM_003977.4(AIP):c.10A>T (p.Ile4Phe)	AIP (I4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094440	NM_003977.4(AIP):c.11T>C (p.Ile4Thr)	AIP (I4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806090	NM_003977.4(AIP):c.12C>T (p.Ile4=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1154113	NM_003977.4(AIP):c.12C>A (p.Ile4=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 818845	NM_003977.4(AIP):c.12C>G (p.Ile4Met)	AIP (I4M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1628125	NM_003977.4(AIP):c.15C>T (p.Ile5=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2675379	NM_003977.4(AIP):c.16G>A (p.Ala6Thr)	AIP (A6T)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 2566790	NM_003977.4(AIP):c.16G>T (p.Ala6Ser)	AIP (A6S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1780364	NM_003977.4(AIP):c.17C>T (p.Ala6Val)	AIP (A6V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1780355	NM_003977.4(AIP):c.17C>A (p.Ala6Glu)	AIP (A6E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1047798	NM_003977.4(AIP):c.23T>G (p.Leu8Arg)	AIP (L8R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1792209	NM_003977.4(AIP):c.24C>G (p.Leu8=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1078174	NM_003977.4(AIP):c.24C>T (p.Leu8=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388468	NM_003977.4(AIP):c.25C>T (p.Arg9Trp)	AIP (R9W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1794911	NM_003977.4(AIP):c.26G>T (p.Arg9Leu)	AIP (R9L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485052	NM_003977.4(AIP):c.26G>A (p.Arg9Gln)	AIP (R9Q)	Single nucleotide variant (missense variant)	Somatotroph adenoma +4 more	GConflicting classifications of pathogenicity
Select item 1797430	NM_003977.4(AIP):c.28G>A (p.Glu10Lys)	AIP (E10K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1465955	NM_003977.4(AIP):c.29A>G (p.Glu10Gly)	AIP (E10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668461	NM_003977.4(AIP):c.30G>A (p.Glu10=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2566784	NM_003977.4(AIP):c.31G>T (p.Asp11Tyr)	AIP (D11Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1963649	NM_003977.4(AIP):c.33C>G (p.Asp11Glu)	AIP (D11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911037	NM_003977.4(AIP):c.34G>A (p.Gly12Arg)	AIP (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103283	NM_003977.4(AIP):c.35G>C (p.Gly12Ala)	AIP (G12A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1692752	NM_003977.4(AIP):c.35G>A (p.Gly12Glu)	AIP (G12E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1405325	NM_003977.4(AIP):c.36G>T (p.Gly12=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1102270	NM_003977.4(AIP):c.36G>C (p.Gly12=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 305723	NM_003977.4(AIP):c.36G>A (p.Gly12=)	AIP	Single nucleotide variant (synonymous variant)	AIP-related condition +3 more	GBenign/Likely benign
Select item 1486213	NM_003977.4(AIP):c.37A>G (p.Ile13Val)	AIP (I13V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1406802	NM_003977.4(AIP):c.38T>A (p.Ile13Asn)	AIP (I13N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1570641	NM_003977.4(AIP):c.39C>T (p.Ile13=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4886	NM_003977.4(AIP):c.40C>T (p.Gln14Ter)	AIP (Q14*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2870459	NM_003977.4(AIP):c.41_47del (p.Gln14fs)	AIP (Q14fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 824668	NM_003977.4(AIP):c.41A>C (p.Gln14Pro)	AIP (Q14P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2824849	NM_003977.4(AIP):c.45A>T (p.Lys15Asn)	AIP (K15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1741780	NM_003977.4(AIP):c.45A>G (p.Lys15=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1446003	NM_003977.4(AIP):c.46C>T (p.Arg16Cys)	AIP (R16C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41184	NM_003977.4(AIP):c.47G>A (p.Arg16His)	AIP (R16H)	Single nucleotide variant (missense variant)	Somatotroph adenoma +4 more	GConflicting classifications of pathogenicity
Select item 1743979	NM_003977.4(AIP):c.48T>C (p.Arg16=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2780216	NM_003977.4(AIP):c.51G>C (p.Val17=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 825703	NM_003977.4(AIP):c.53T>C (p.Ile18Thr)	AIP (I18T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1369274	NM_003977.4(AIP):c.56A>G (p.Gln19Arg)	AIP (Q19R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1422664	NM_003977.4(AIP):c.57G>C (p.Gln19His)	AIP (Q19H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1083285	NM_003977.4(AIP):c.57G>A (p.Gln19=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2002342	NM_003977.4(AIP):c.58G>A (p.Glu20Lys)	AIP (E20K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972587	NM_003977.4(AIP):c.59A>G (p.Glu20Gly)	AIP (E20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905658	NM_003977.4(AIP):c.61G>A (p.Gly21Ser)	AIP (G21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3223623	NM_003977.4(AIP):c.62G>T (p.Gly21Val)	AIP (G21V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1752722	NM_003977.4(AIP):c.62G>A (p.Gly21Asp)	AIP (G21D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 963750	NM_003977.4(AIP):c.62G>C (p.Gly21Ala)	AIP (G21A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1128637	NM_003977.4(AIP):c.63C>T (p.Gly21=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1753891	NM_003977.4(AIP):c.64C>A (p.Arg22=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 4894	NM_003977.4(AIP):c.64C>T (p.Arg22Ter)	AIP (R22*)	Single nucleotide variant (nonsense)	Somatotroph adenoma	GPathogenic
Select item 2131911	NM_003977.4(AIP):c.65G>A (p.Arg22Gln)	AIP (R22Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2088778	NM_003977.4(AIP):c.66A>C (p.Arg22=)	AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4889	NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)	AIP	Deletion (inframe_deletion)	Somatotroph adenoma	GPathogenic
Select item 305724	NM_003977.4(AIP):c.68G>A (p.Gly23Glu)	AIP (G23E)	Single nucleotide variant (missense variant)	AIP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2879654	NM_003977.4(AIP):c.70G>A (p.Glu24Lys)	AIP (E24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 826838	NM_003977.4(AIP):c.70G>C (p.Glu24Gln)	AIP (E24Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41196	NM_003977.4(AIP):c.70G>T (p.Glu24Ter)	AIP (E24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 485057	NM_003977.4(AIP):c.72G>C (p.Glu24Asp)	AIP (E24D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2814184	NM_003977.4(AIP):c.73C>G (p.Leu25Val)	AIP (L25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954536	NM_003977.4(AIP):c.73C>T (p.Leu25Phe)	AIP (L25F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 41203	NM_003977.3(AIP):c.74_81delTCCCGGACins7	AIP	Indel	Somatotroph adenoma	GLikely pathogenic
Select item 1759723	NM_003977.4(AIP):c.75C>A (p.Leu25=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2873002	NM_003977.4(AIP):c.76C>G (p.Pro26Ala)	AIP (P26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821483	NM_003977.4(AIP):c.77C>T (p.Pro26Leu)	AIP (P26L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367273	NM_003977.4(AIP):c.77C>G (p.Pro26Arg)	AIP (P26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1761135	NM_003977.4(AIP):c.78G>T (p.Pro26=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1541075	NM_003977.4(AIP):c.78G>A (p.Pro26=)	AIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1063510	NM_003977.4(AIP):c.79G>C (p.Asp27His)	AIP (D27H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance

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