ClinVar for MedGen (Select 96060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068631	NM_017671.5(FERMT1):c.1648G>T (p.Glu550Ter)	FERMT1 (E550*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 2444858	NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)	FERMT1 (W12*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 2440238	NM_017671.5(FERMT1):c.373del (p.Cys125fs)	FERMT1 (C125fs)	Deletion (frameshift variant)	Kindler syndrome	GLikely pathogenic
Select item 1370333	NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg)	FERMT1 (G598R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1341677	NM_017671.5:c.892_893insALU	FERMT1	Insertion	Kindler syndrome	GPathogenic
Select item 1338732	NM_017671.5(FERMT1):c.456dup (p.Asp153fs)	FERMT1 (D153fs)	Duplication (frameshift variant)	Kindler syndrome	Gnot provided
Select item 1338731	NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter)	FERMT1 (Q226*)	Single nucleotide variant (nonsense)	Kindler syndrome	Gnot provided
Select item 1333530	NM_017671.5(FERMT1):c.1718+2T>C	FERMT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1329491	NM_017671.5(FERMT1):c.1861-1G>A	FERMT1	Single nucleotide variant (splice acceptor variant)	Kindler syndrome	GPathogenic
Select item 1322895	NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter)	FERMT1 (R110*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1222194	NM_017671.5(FERMT1):c.1594-28A>G	FERMT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1172545	NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter)	FERMT1 (Q332*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 1048114	NM_017671.5(FERMT1):c.1264+363_1372-602del	FERMT1	Deletion (splice acceptor variant +1 more)	Kindler syndrome	GPathogenic
Select item 1047998	NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter)	FERMT1 (Q460*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 1047997	NM_017671.5(FERMT1):c.1264+1G>A	FERMT1	Single nucleotide variant (splice donor variant)	Kindler syndrome	GPathogenic
Select item 1047996	NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)	FERMT1 (S114*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 996653	NM_017671.5(FERMT1):c.27del (p.Phe9fs)	FERMT1 (F9fs)	Deletion (frameshift variant)	Kindler syndrome	GLikely pathogenic
Select item 899059	NM_017671.5(FERMT1):c.-109G>T	FERMT1	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 898990	NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly)	FERMT1 (R271G)	Single nucleotide variant (missense variant)	Kindler syndrome	GUncertain significance
Select item 898989	NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln)	FERMT1 (R288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898988	NM_017671.5(FERMT1):c.978G>A (p.Ser326=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898987	NM_017671.5(FERMT1):c.1115T>G (p.Leu372Arg)	FERMT1 (L372R)	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)	Kindler syndrome +1 more	GConflicting classifications of pathogenicity
Select item 898910	NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn)	FERMT1 (D665N)	Single nucleotide variant (missense variant)	Kindler syndrome +1 more	GUncertain significance
Select item 898909	NM_017671.5(FERMT1):c.*59A>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 898908	NM_017671.5(FERMT1):c.*174T>A	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 +1 more	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 898851	NM_017671.5(FERMT1):c.*1358T>G	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 898850	NM_017671.5(FERMT1):c.*1386A>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GBenign
Select item 897999	NM_017671.4(FERMT1):c.-800C>A	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 897998	NM_017671.4(FERMT1):c.-777C>T	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 897997	NM_017671.4(FERMT1):c.-668C>A	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 897839	NM_017671.5(FERMT1):c.1307T>C (p.Phe436Ser)	FERMT1 (F436S)	Single nucleotide variant (missense variant)	Kindler syndrome	GUncertain significance
Select item 897838	NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn)	FERMT1 (D456N)	Single nucleotide variant (missense variant)	Kindler syndrome +1 more	GUncertain significance
Select item 897837	NM_017671.5(FERMT1):c.1371+7A>G	FERMT1	Single nucleotide variant (intron variant)	Kindler syndrome	GUncertain significance
Select item 897836	NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GBenign/Likely benign
Select item 897835	NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr)	FERMT1 (A462T)	Single nucleotide variant (missense variant)	not provided +1 more	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 897768	NM_017671.5(FERMT1):c.*298G>T	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GLikely benign
Select item 897767	NM_017671.5(FERMT1):c.*305C>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 897691	NM_017671.5(FERMT1):c.*1531G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 897690	NM_017671.5(FERMT1):c.*1774G>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 897688	NM_017671.5(FERMT1):c.*1885G>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 896304	NM_017671.5(FERMT1):c.279G>A (p.Gln93=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GConflicting classifications of pathogenicity
Select item 896303	NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala)	FERMT1 (G175A)	Single nucleotide variant (missense variant)	Kindler syndrome +2 more	GUncertain significance
Select item 896302	NM_017671.5(FERMT1):c.533-14C>T	FERMT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896232	NM_017671.5(FERMT1):c.1599C>T (p.Ala533=)	FERMT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896167	NM_017671.5(FERMT1):c.*450A>G	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 896165	NM_017671.5(FERMT1):c.*764G>A	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 896102	NM_017671.5(FERMT1):c.*2124C>A	FERMT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 895953	NM_017671.5(FERMT1):c.1648G>A (p.Glu550Lys)	FERMT1 (E550K)	Single nucleotide variant (missense variant)	not provided +2 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 895887	NM_017671.5(FERMT1):c.*1137T>A	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 894928	NM_017671.4(FERMT1):c.-448C>A	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 894927	NM_017671.5(FERMT1):c.-262C>G	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 894926	NM_017671.5(FERMT1):c.-244G>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 894855	NM_017671.5(FERMT1):c.555A>G (p.Lys185=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome	GUncertain significance
Select item 894854	NM_017671.5(FERMT1):c.564C>A (p.Thr188=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome	GUncertain significance
Select item 894853	NM_017671.5(FERMT1):c.713G>A (p.Arg238Gln)	FERMT1 (R238Q)	Single nucleotide variant (missense variant)	Kindler syndrome	GUncertain significance
Select item 789124	NM_017671.5(FERMT1):c.1627G>A (p.Val543Met)	FERMT1 (V543M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 711755	NM_017671.5(FERMT1):c.51C>T (p.Arg17=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GBenign
Select item 711081	NM_017671.5(FERMT1):c.293G>A (p.Arg98His)	FERMT1 (R98H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 419594	NM_017671.5(FERMT1):c.1371+4A>G	FERMT1	Single nucleotide variant (intron variant)	Kindler syndrome +1 more	GPathogenic
Select item 419593	NM_017671.5(FERMT1):c.676dup (p.Gln226fs)	FERMT1 (Q226fs)	Duplication (frameshift variant)	Kindler syndrome +1 more	GPathogenic
Select item 339261	NM_017671.4(FERMT1):c.-710G>T	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339260	NM_017671.4(FERMT1):c.-692A>G	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339259	NM_017671.4(FERMT1):c.-666G>A	FERMT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 339258	NM_017671.4(FERMT1):c.-655C>T	FERMT1	Single nucleotide variant	Kindler syndrome	GLikely benign
Select item 339257	NM_017671.4(FERMT1):c.-646G>C	FERMT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 339256	NM_017671.4(FERMT1):c.-644G>C	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339255	NM_017671.4(FERMT1):c.-609G>A	FERMT1	Single nucleotide variant	Kindler syndrome	GLikely benign
Select item 339254	NM_017671.4(FERMT1):c.-606G>C	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339253	NM_017671.4(FERMT1):c.-588C>T	FERMT1	Single nucleotide variant	Kindler syndrome	GLikely benign
Select item 339252	NM_017671.4(FERMT1):c.-514T>C	FERMT1	Single nucleotide variant	Kindler syndrome +1 more	GBenign
Select item 339251	NM_017671.4(FERMT1):c.-514T>G	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339250	NM_017671.4(FERMT1):c.-456C>A	FERMT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 339249	NM_017671.4(FERMT1):c.-366C>G	FERMT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 339248	NM_017671.4(FERMT1):c.-354G>C	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339247	NM_017671.4(FERMT1):c.-343C>T	FERMT1	Single nucleotide variant	Kindler syndrome	GUncertain significance
Select item 339246	NM_017671.4(FERMT1):c.-301C>T	FERMT1	Single nucleotide variant	not provided +1 more	GBenign
Select item 339245	NM_017671.5(FERMT1):c.-215G>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339244	NM_017671.5(FERMT1):c.-189C>A	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339243	NM_017671.5(FERMT1):c.-185A>G	FERMT1, LOC130065404	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 339242	NM_017671.5(FERMT1):c.-154GCC[2]	FERMT1	Microsatellite (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 339241	NM_017671.5(FERMT1):c.-136C>T	FERMT1	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339240	NM_017671.5(FERMT1):c.-116A>G	FERMT1	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339239	NM_017671.5(FERMT1):c.-105C>G	FERMT1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 339238	NM_017671.5(FERMT1):c.-93C>G	FERMT1	Single nucleotide variant (5 prime UTR variant)	Kindler syndrome	GUncertain significance
Select item 339237	NM_017671.5(FERMT1):c.-28T>C	FERMT1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 339236	NM_017671.5(FERMT1):c.52G>A (p.Val18Ile)	FERMT1 (V18I)	Single nucleotide variant (missense variant)	Kindler syndrome +1 more	GUncertain significance
Select item 339235	NM_017671.5(FERMT1):c.64A>G (p.Asn22Asp)	FERMT1 (N22D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 339234	NM_017671.5(FERMT1):c.211C>T (p.Leu71=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GBenign
Select item 339233	NM_017671.5(FERMT1):c.234C>T (p.Asp78=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GBenign
Select item 339232	NM_017671.5(FERMT1):c.240T>C (p.Tyr80=)	FERMT1	Single nucleotide variant (synonymous variant)	Kindler syndrome +1 more	GConflicting classifications of pathogenicity

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