4233[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 3826

<< First< Prev

Page of 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 155346	GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1	CAPZA2, CAV1 +98 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1166750	NM_000245.4(MET):c.-207C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Renal cell carcinoma +1 more	GBenign
Select item 13891	NM_000245.4(MET):c.-207=	COMETT, MET	Single nucleotide variant (no sequence alteration)	Autism, susceptibility to, 9	GUncertain significance
Select item 911964	NM_000245.4(MET):c.-182C>A	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 358677	NM_000245.4(MET):c.-180C>A	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358678	NM_000245.4(MET):c.-165C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358679	NM_000245.4(MET):c.-157T>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 911965	NM_000245.4(MET):c.-109C>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 1213443	NM_000245.4(MET):c.-81G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 358680	NM_000245.4(MET):c.-66G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358681	NM_000245.4(MET):c.-64G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 909032	NM_000245.4(MET):c.-35C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 676958	NM_000245.4(MET):c.-15+237del	COMETT, MET	Deletion (intron variant)	not provided	GLikely benign
Select item 135554	NM_000245.4(MET):c.-14-3314A>T	MET	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135555	NM_000245.4(MET):c.-14-3297G>C	MET	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 3256458	NM_000245.4(MET):c.-14-35A>G	MET	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1697545	NM_000245.4(MET):c.-14-26C>T	MET	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 381955	NM_000245.4(MET):c.-14-13C>T	MET	Single nucleotide variant (intron variant)	Papillary renal cell carcinoma type 1 +2 more	GBenign
Select item 2692117	NM_000245.4(MET):c.-14-12C>G	MET	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 167291	NM_000245.4(MET):c.-14-4G>A	MET	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 569107	NM_000245.4(MET):c.-12_17del (p.Met1fs)	MET (M1fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 583929	NC_000007.13:g.(?_116339129)_(116340348_?)dup	MET	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC116186911, LOC123956215 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 215784	NM_000245.4(MET):c.-7T>C	MET	Single nucleotide variant (5 prime UTR variant +1 more)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 1320705	NM_000245.4(MET):c.-3A>T	MET	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3232962	NM_000245.4(MET):c.-2T>C	MET	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 220130	NM_001127500.2(MET):c.(?_-1)_1200+?dup	MET	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 841732	NM_000245.4(MET):c.7G>A (p.Ala3Thr)	MET (A3T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2801430	NM_000245.4(MET):c.8C>T (p.Ala3Val)	MET (A3V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1154382	NM_000245.4(MET):c.9C>T (p.Ala3=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 1143886	NM_000245.4(MET):c.12C>G (p.Pro4=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma	GLikely benign
Select item 358682	NM_000245.4(MET):c.12C>T (p.Pro4=)	MET	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 1771772	NM_000245.4(MET):c.13G>T (p.Ala5Ser)	MET (A5S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 454185	NM_000245.4(MET):c.13G>A (p.Ala5Thr)	MET (A5T)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 1778331	NM_000245.4(MET):c.16G>A (p.Val6Met)	MET (V6M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819874	NM_000245.4(MET):c.16G>T (p.Val6Leu)	MET (V6L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2919100	NM_000245.4(MET):c.17T>G (p.Val6Gly)	MET (V6G)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1126235	NM_000245.4(MET):c.21T>G (p.Leu7=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 3232932	NM_000245.4(MET):c.22G>T (p.Ala8Ser)	MET (A8S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485749	NM_000245.4(MET):c.22G>A (p.Ala8Thr)	MET (A8T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +3 more	GConflicting classifications of pathogenicity
Select item 2920571	NM_000245.4(MET):c.24dup (p.Pro9fs)	MET (P9fs)	Duplication (frameshift variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1792198	NM_000245.4(MET):c.24A>T (p.Ala8=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1516929	NM_000245.4(MET):c.25C>T (p.Pro9Ser)	MET (P9S)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1478952	NM_000245.4(MET):c.25C>A (p.Pro9Thr)	MET (P9T)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1006595	NM_000245.4(MET):c.26C>T (p.Pro9Leu)	MET (P9L)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 2587470	NM_000245.4(MET):c.27T>C (p.Pro9=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1538697	NM_000245.4(MET):c.27T>G (p.Pro9=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 970706	NM_000245.4(MET):c.29G>A (p.Gly10Asp)	MET (G10D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2855423	NM_000245.4(MET):c.30C>T (p.Gly10=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 640609	NM_000245.4(MET):c.31A>G (p.Ile11Val)	MET (I11V)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +1 more	GUncertain significance
Select item 1367128	NM_000245.4(MET):c.34C>T (p.Leu12Phe)	MET (L12F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1319318	NM_000245.4(MET):c.34C>A (p.Leu12Ile)	MET (L12I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 641845	NM_000245.4(MET):c.36C>A (p.Leu12=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 219710	NM_000245.4(MET):c.36C>T (p.Leu12=)	MET	Single nucleotide variant (synonymous variant +1 more)	Papillary renal cell carcinoma type 1 +2 more	GBenign/Likely benign
Select item 2907157	NM_000245.4(MET):c.37G>C (p.Val13Leu)	MET (V13L)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1735057	NM_000245.4(MET):c.37G>T (p.Val13Leu)	MET (V13L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +2 more	GUncertain significance
Select item 411901	NM_000245.4(MET):c.37G>A (p.Val13Met)	MET (V13M)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +2 more	GConflicting classifications of pathogenicity
Select item 1736014	NM_000245.4(MET):c.38T>C (p.Val13Ala)	MET (V13A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +2 more	GUncertain significance
Select item 188112	NM_000245.4(MET):c.40C>T (p.Leu14Phe)	MET (L14F)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +4 more	GConflicting classifications of pathogenicity
Select item 1115623	NM_000245.4(MET):c.42C>G (p.Leu14=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma	GLikely benign
Select item 1634616	NM_000245.4(MET):c.43C>T (p.Leu15=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1741045	NM_000245.4(MET):c.44T>C (p.Leu15Pro)	MET (L15P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2495782	NM_000245.4(MET):c.45G>C (p.Leu15=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2154734	NM_000245.4(MET):c.47T>G (p.Phe16Cys)	MET (F16C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3233000	NM_000245.4(MET):c.48T>C (p.Phe16=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 825439	NM_000245.4(MET):c.50C>G (p.Thr17Ser)	MET (T17S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 665396	NM_000245.4(MET):c.50C>T (p.Thr17Ile)	MET (T17I)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +1 more	GUncertain significance
Select item 757215	NM_000245.4(MET):c.51C>T (p.Thr17=)	MET	Single nucleotide variant (synonymous variant +1 more)	Papillary renal cell carcinoma type 1	GLikely benign
Select item 2787263	NM_000245.4(MET):c.52T>G (p.Leu18Val)	MET (L18V)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 2495762	NM_000245.4(MET):c.52T>A (p.Leu18Met)	MET (L18M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2154156	NM_000245.4(MET):c.52T>C (p.Leu18=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma	GLikely benign
Select item 3294301	NM_000245.4(MET):c.54G>T (p.Leu18Phe)	MET (L18F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1712672	NM_000245.4(MET):c.55G>C (p.Val19Leu)	MET (V19L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1749767	NM_000245.4(MET):c.57G>T (p.Val19=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 794620	NM_000245.4(MET):c.57G>A (p.Val19=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma +1 more	GLikely benign
Select item 2447325	NM_000245.4(MET):c.58C>A (p.Gln20Lys)	MET (Q20K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2736820	NM_000245.4(MET):c.61A>G (p.Arg21Gly)	MET (R21G)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1692567	NM_000245.4(MET):c.62G>A (p.Arg21Lys)	MET (R21K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +3 more	GConflicting classifications of pathogenicity
Select item 135974	NM_000245.4(MET):c.65G>T (p.Ser22Ile)	MET (S22I)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 1949562	NM_000245.4(MET):c.66C>G (p.Ser22Arg)	MET (S22R)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 826560	NM_000245.4(MET):c.66C>A (p.Ser22Arg)	MET (S22R)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +1 more	GUncertain significance
Select item 1956254	NM_000245.4(MET):c.69T>C (p.Asn23=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma	GLikely benign
Select item 134649	NM_000245.4(MET):c.71G>A (p.Gly24Glu)	MET (G24E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 826954	NM_000245.4(MET):c.72G>A (p.Gly24=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1758727	NM_000245.4(MET):c.73G>A (p.Glu25Lys)	MET (E25K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1461779	NM_000245.4(MET):c.73G>T (p.Glu25Ter)	MET (E25*)	Single nucleotide variant (nonsense +1 more)	Renal cell carcinoma	GUncertain significance
Select item 1108190	NM_000245.4(MET):c.75G>A (p.Glu25=)	MET	Single nucleotide variant (synonymous variant +1 more)	Renal cell carcinoma	GLikely benign
Select item 1378972	NM_000245.4(MET):c.76T>C (p.Cys26Arg)	MET (C26R)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma	GUncertain significance
Select item 827261	NM_000245.4(MET):c.77G>A (p.Cys26Tyr)	MET (C26Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1442248	NM_000245.4(MET):c.79A>T (p.Lys27Ter)	MET (K27*)	Single nucleotide variant (nonsense +1 more)	Renal cell carcinoma	GUncertain significance
Select item 2119357	NM_000245.4(MET):c.80_81delinsGG (p.Lys27Arg)	MET (K27R)	Indel (missense variant +1 more)	Renal cell carcinoma	GUncertain significance

<< First< Prev

Page of 39