55612[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 339163	NM_017671.5(FERMT1):c.*2294T>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339164	NM_017671.5(FERMT1):c.*2250C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339165	NM_017671.5(FERMT1):c.*2227C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 895821	NM_017671.5(FERMT1):c.*2221A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339166	NM_017671.5(FERMT1):c.*2204T>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 339167	NM_017671.5(FERMT1):c.*2127dup	FERMT1	Duplication (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339168	NM_017671.5(FERMT1):c.2124_2125del	FERMT1	Deletion (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896102	NM_017671.5(FERMT1):c.*2124C>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 339170	NM_017671.5(FERMT1):c.*2123dup	FERMT1	Duplication (3 prime UTR variant)	Kindler syndrome +1 more	GUncertain significance
Select item 339169	NM_017671.5(FERMT1):c.*2124del	FERMT1	Deletion (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339171	NM_017671.5(FERMT1):c.*2118A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 339172	NM_017671.5(FERMT1):c.*2108del	FERMT1	Deletion (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339173	NM_017671.5(FERMT1):c.*2073A>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339174	NM_017671.5(FERMT1):c.*2069T>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339175	NM_017671.5(FERMT1):c.*2068A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339176	NM_017671.5(FERMT1):c.*2058C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339177	NM_017671.5(FERMT1):c.*2016T>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 897688	NM_017671.5(FERMT1):c.*1885G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897689	NM_017671.5(FERMT1):c.*1843C>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339178	NM_017671.5(FERMT1):c.*1777dup	FERMT1	Duplication (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 897690	NM_017671.5(FERMT1):c.*1774G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897691	NM_017671.5(FERMT1):c.*1531G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339179	NM_017671.5(FERMT1):c.*1472G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339180	NM_017671.5(FERMT1):c.*1464C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339181	NM_017671.5(FERMT1):c.*1458C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339182	NM_017671.5(FERMT1):c.*1417T>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 898850	NM_017671.5(FERMT1):c.*1386A>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339183	NM_017671.5(FERMT1):c.*1375G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339184	NM_017671.5(FERMT1):c.*1365C>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 898851	NM_017671.5(FERMT1):c.*1358T>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 898852	NM_017671.5(FERMT1):c.*1338T>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339185	NM_017671.5(FERMT1):c.*1299C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 898853	NM_017671.5(FERMT1):c.*1195A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339186	NM_017671.5(FERMT1):c.*1155T>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 895887	NM_017671.5(FERMT1):c.*1137T>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339187	NM_017671.5(FERMT1):c.*1076C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome +1 more	GUncertain significance
Select item 895888	NM_017671.5(FERMT1):c.*1058T>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339188	NM_017671.5(FERMT1):c.*1035C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339189	NM_017671.5(FERMT1):c.*1004G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome +1 more	GUncertain significance
Select item 339190	NM_017671.5(FERMT1):c.*960G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339191	NM_017671.5(FERMT1):c.*951A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339192	NM_017671.5(FERMT1):c.*932C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896164	NM_017671.5(FERMT1):c.*908A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339193	NM_017671.5(FERMT1):c.*902A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 339194	NM_017671.5(FERMT1):c.*896G>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896165	NM_017671.5(FERMT1):c.*764G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339195	NM_017671.5(FERMT1):c.*730C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339196	NM_017671.5(FERMT1):c.*697G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896166	NM_017671.5(FERMT1):c.*638C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896167	NM_017671.5(FERMT1):c.*450A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339197	NM_017671.5(FERMT1):c.*438C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897766	NM_017671.5(FERMT1):c.*436A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897767	NM_017671.5(FERMT1):c.*305C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897768	NM_017671.5(FERMT1):c.*298G>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 339198	NM_017671.5(FERMT1):c.*266A>C	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 339199	NM_017671.5(FERMT1):c.*251C>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339200	NM_017671.5(FERMT1):c.*207C>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897769	NM_017671.5(FERMT1):c.*205C>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339201	NM_017671.5(FERMT1):c.*194G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 339202	NM_017671.5(FERMT1):c.*193C>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 898908	NM_017671.5(FERMT1):c.*174T>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339203	NM_017671.5(FERMT1):c.*72G>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 898909	NM_017671.5(FERMT1):c.*59A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 339204	NM_017671.5(FERMT1):c.*42A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 1920611	NM_017671.5(FERMT1):c.2019C>G (p.Thr673=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708642	NM_017671.5(FERMT1):c.2019C>T (p.Thr673=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2110145	NM_017671.5(FERMT1):c.2012A>C (p.Lys671Thr)	FERMT1 (K671T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898910	NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn)	FERMT1 (D665N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898911	NM_017671.5(FERMT1):c.1992C>T (p.Leu664=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1899121	NM_017671.5(FERMT1):c.1990C>T (p.Leu664Phe)	FERMT1 (L664F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363514	NM_017671.5(FERMT1):c.1982A>G (p.Asn661Ser)	FERMT1 (N661S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985652	NM_017671.5(FERMT1):c.1968C>T (p.Arg656=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371634	NM_017671.5(FERMT1):c.1967G>A (p.Arg656His)	FERMT1 (R656H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706167	NM_017671.5(FERMT1):c.1956C>T (p.Phe652=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954264	NM_017671.5(FERMT1):c.1953T>G (p.Ile651Met)	FERMT1 (I651M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113341	NM_017671.5(FERMT1):c.1952T>A (p.Ile651Asn)	FERMT1 (I651N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104300	NM_017671.5(FERMT1):c.1945G>A (p.Gly649Ser)	FERMT1 (G649S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906476	NM_017671.5(FERMT1):c.1944C>A (p.Gly648=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339205	NM_017671.5(FERMT1):c.1944C>T (p.Gly648=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1912786	NM_017671.5(FERMT1):c.1940T>C (p.Ile647Thr)	FERMT1 (I647T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466139	NM_017671.5(FERMT1):c.1939A>C (p.Ile647Leu)	FERMT1 (I647L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952569	NM_017671.5(FERMT1):c.1930C>A (p.His644Asn)	FERMT1 (H644N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911314	NM_017671.5(FERMT1):c.1927G>A (p.Val643Met)	FERMT1 (V643M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894429	NM_017671.5(FERMT1):c.1914A>G (p.Ala638=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817015	NM_017671.5(FERMT1):c.1908G>A (p.Leu636=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500214	NM_017671.5(FERMT1):c.1907T>C (p.Leu636Pro)	FERMT1 (L636P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971494	NM_017671.5(FERMT1):c.1905C>T (p.Cys635=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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