11330[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 240761	NM_007272.3(CTRC):c.-59C>T	CTRC	Single nucleotide variant	CTRC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 665644	GRCh38/hg38 1p36.21(chr1:15438455-15438514)	CTRC	Copy number gain	Hereditary pancreatitis	GUncertain significance
Select item 2626250	NM_007272.3(CTRC):c.-2C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784194	NM_007272.3(CTRC):c.-1C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784172	NM_007272.3(CTRC):c.1A>G (p.Met1Val)	CTRC (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1798675	NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	CTRC (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely pathogenic
Select item 2073059	NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)	CTRC (L2W)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2624555	NM_007272.3(CTRC):c.6G>A (p.Leu2=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1761606	NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)	CTRC (G3C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626259	NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)	CTRC (G3D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1747184	NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)	CTRC (I4T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1769354	NM_007272.3(CTRC):c.12C>T (p.Ile4=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449709	NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)	CTRC (T5P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1771755	NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)	CTRC (T5S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 416443	NM_007272.3(CTRC):c.15T>C (p.Thr5=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226054	NM_007272.3(CTRC):c.16G>A (p.Val6Ile)	CTRC (V6I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1787580	NM_007272.3(CTRC):c.21C>A (p.Leu7=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1582714	NM_007272.3(CTRC):c.21C>T (p.Leu7=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1059745	NM_007272.3(CTRC):c.22G>A (p.Ala8Thr)	CTRC (A8T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1790704	NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)	CTRC (A8G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 292903	NM_007272.3(CTRC):c.25G>T (p.Ala9Ser)	CTRC (A9S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1794896	NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)	CTRC (A9E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 292904	NM_007272.3(CTRC):c.26C>T (p.Ala9Val)	CTRC (A9V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 2626266	NM_007272.3(CTRC):c.27G>C (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 416445	NM_007272.3(CTRC):c.27G>A (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1798638	NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)	CTRC (L10P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1727604	NM_007272.3(CTRC):c.30C>G (p.Leu10=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1728799	NM_007272.3(CTRC):c.31T>C (p.Leu11=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1731045	NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)	CTRC (L11F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1731031	NM_007272.3(CTRC):c.33G>A (p.Leu11=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 654653	NM_007272.3(CTRC):c.35C>T (p.Ala12Val)	CTRC (A12V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 410882	NM_007272.3(CTRC):c.39T>C (p.Cys13=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 662237	NM_007272.3(CTRC):c.40+4A>G	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 2920951	NM_007272.3(CTRC):c.40+6C>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 1431869	NM_007272.3(CTRC):c.40+7G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 1585827	NM_007272.3(CTRC):c.40+10G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1571715	NM_007272.3(CTRC):c.40+12G>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 2741727	NM_007272.3(CTRC):c.40+14T>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 994092	NM_007272.3(CTRC):c.40+18G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 810961	NM_007272.3(CTRC):c.40+24G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1297418	NM_007272.3(CTRC):c.40+175C>A	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260105	NM_007272.3(CTRC):c.41-178A>T	CTRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1946431	NM_007272.3(CTRC):c.41-11T>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 1113740	NM_007272.3(CTRC):c.41-6C>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 824639	NM_007272.3(CTRC):c.41-5C>A	CTRC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292905	NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)	CTRC (S16G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 2681027	NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)	CTRC (S16I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1743942	NM_007272.3(CTRC):c.48C>T (p.Ser16=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1743935	NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)	CTRC (S16R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 582232	NM_007272.3(CTRC):c.52G>A (p.Gly18Arg)	CTRC (G18R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1747953	NM_007272.3(CTRC):c.54G>A (p.Gly18=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449713	NM_007272.3(CTRC):c.55G>A (p.Val19Met)	CTRC (V19M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1748564	NM_007272.3(CTRC):c.55G>T (p.Val19Leu)	CTRC (V19L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2452656	NM_007272.3(CTRC):c.56T>C (p.Val19Ala)	CTRC (V19A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1749750	NM_007272.3(CTRC):c.57dup (p.Pro20fs)	CTRC (P20fs)	Duplication (frameshift variant)	Hereditary pancreatitis	GPathogenic
Select item 834628	NM_007272.3(CTRC):c.58C>T (p.Pro20Ser)	CTRC (P20S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1753301	NM_007272.3(CTRC):c.63C>T (p.Ser21=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564424	NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)	CTRC (F22L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1754972	NM_007272.3(CTRC):c.66C>T (p.Phe22=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 292906	NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)	CTRC (P23L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1756582	NM_007272.3(CTRC):c.69G>T (p.Pro23=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 702853	NM_007272.3(CTRC):c.69G>A (p.Pro23=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 937132	NM_007272.3(CTRC):c.71C>T (p.Pro24Leu)	CTRC (P24L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1758191	NM_007272.3(CTRC):c.72C>T (p.Pro24=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564422	NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)	CTRC (N25D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1760205	NM_007272.3(CTRC):c.76C>T (p.Leu26=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1760693	NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)	CTRC (L26P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1761102	NM_007272.3(CTRC):c.78A>G (p.Leu26=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 873856	NM_007272.3(CTRC):c.81C>T (p.Ser27=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1762834	NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)	CTRC (A28S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 292907	NM_007272.3(CTRC):c.82G>A (p.Ala28Thr)	CTRC (A28T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1763237	NM_007272.3(CTRC):c.83C>T (p.Ala28Val)	CTRC (A28V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1559137	NM_007272.3(CTRC):c.84C>T (p.Ala28=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 576351	NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	CTRC (R29*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2147719	NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)	CTRC (R29P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1397450	NM_007272.3(CTRC):c.86G>A (p.Arg29Gln)	CTRC (R29Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1163624	NM_007272.3(CTRC):c.86G>T (p.Arg29Leu)	CTRC (R29L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 2497347	NM_007272.3(CTRC):c.89T>C (p.Val30Ala)	CTRC (V30A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226092	NM_007272.3(CTRC):c.91G>A (p.Val31Met)	CTRC (V31M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2153827	NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)	CTRC (G32E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1773718	NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)	CTRC (D35N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2915456	NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)	CTRC (A36S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1788818	NM_007272.3(CTRC):c.108C>T (p.Ala36=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 847694	NM_007272.3(CTRC):c.109C>T (p.Arg37Trp)	CTRC (R37W)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance

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