160418[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 1288129	NM_181783.4(TMTC3):c.-28-145C>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372277	NM_181783.4(TMTC3):c.3G>A (p.Met1Ile)	TMTC3 (M1I)	Single nucleotide variant (missense variant +3 more)	Lissencephaly 8	GPathogenic
Select item 1033238	NM_181783.4(TMTC3):c.10A>G (p.Ile4Val)	TMTC3 (I4V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 796286	NM_181783.4(TMTC3):c.15C>T (p.Asn5=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1494499	NM_181783.4(TMTC3):c.59A>G (p.Tyr20Cys)	TMTC3 (Y20C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1943412	NM_181783.4(TMTC3):c.89T>C (p.Phe30Ser)	TMTC3 (F30S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1900985	NM_181783.4(TMTC3):c.112G>C (p.Asp38His)	TMTC3 (D38H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2105395	NM_181783.4(TMTC3):c.173G>T (p.Gly58Val)	TMTC3 (G58V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1924807	NM_181783.4(TMTC3):c.189+5G>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1250737	NM_181783.4(TMTC3):c.190-86A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901502	NM_181783.4(TMTC3):c.190-16C>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534417	NM_181783.4(TMTC3):c.190-15G>A	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997198	NM_181783.4(TMTC3):c.195A>G (p.Arg65=)	TMTC3	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 372276	NM_181783.4(TMTC3):c.199C>G (p.His67Asp)	TMTC3 (H67D +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 1482338	NM_181783.4(TMTC3):c.235C>T (p.Arg79Cys)	TMTC3 (R79C +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2258636	NM_181783.4(TMTC3):c.272C>T (p.Ser91Leu)	TMTC3 (S91L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1425496	NM_181783.4(TMTC3):c.311G>C (p.Ser104Thr)	TMTC3 (S15T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1366946	NM_181783.4(TMTC3):c.316A>G (p.Ile106Val)	TMTC3 (I106V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2104112	NM_181783.4(TMTC3):c.322C>T (p.Leu108Phe)	TMTC3 (L19F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 749311	NM_181783.4(TMTC3):c.324C>T (p.Leu108=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1643765	NM_181783.4(TMTC3):c.330A>T (p.Val110=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 723618	NM_181783.4(TMTC3):c.335A>G (p.Lys112Arg)	TMTC3 (K112R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 749541	NM_181783.4(TMTC3):c.337C>G (p.Leu113Val)	TMTC3 (L53V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2467083	NM_181783.4(TMTC3):c.346G>C (p.Asp116His)	TMTC3 (D27H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2754196	NM_181783.4(TMTC3):c.360T>C (p.Ser120=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3180056	NM_181783.4(TMTC3):c.382G>A (p.Ala128Thr)	TMTC3 (A39T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2105338	NM_181783.4(TMTC3):c.384A>G (p.Ala128=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2336746	NM_181783.4(TMTC3):c.394A>G (p.Ile132Val)	TMTC3 (I72V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2042401	NM_181783.4(TMTC3):c.399C>T (p.His133=)	TMTC3	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 1167214	NM_181783.4(TMTC3):c.399= (p.His133=)	TMTC3	Variation (no sequence alteration +2 more)	not provided	GBenign
Select item 2776173	NM_181783.4(TMTC3):c.408+14_408+17del	TMTC3	Deletion (intron variant)	not provided	GLikely benign
Select item 2964958	NM_181783.4(TMTC3):c.408+14T>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869151	NM_181783.4(TMTC3):c.408+17A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776174	NM_181783.4(TMTC3):c.408+19dup	TMTC3	Duplication (intron variant)	not provided	GLikely benign
Select item 1234100	NM_181783.4(TMTC3):c.409-57A>G	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751489	NM_181783.4(TMTC3):c.441G>A (p.Leu147=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1973500	NM_181783.4(TMTC3):c.446C>G (p.Ser149Cys)	TMTC3 (S149C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1925923	NM_181783.4(TMTC3):c.448A>G (p.Ile150Val)	TMTC3 (I150V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 715771	NM_181783.4(TMTC3):c.477T>C (p.Tyr159=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2090209	NM_181783.4(TMTC3):c.508+14A>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644419	NM_181783.4(TMTC3):c.508+19del	TMTC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1659184	NM_181783.4(TMTC3):c.508+28del	TMTC3	Deletion (intron variant)	not provided	GBenign
Select item 1281531	NM_181783.4(TMTC3):c.509-196A>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2757560	NM_181783.4(TMTC3):c.509-15G>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558241	NM_181783.4(TMTC3):c.509-10C>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559253	NM_181783.4(TMTC3):c.509-6T>C	TMTC3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1979492	NM_181783.4(TMTC3):c.510A>G (p.Ile170Met)	TMTC3 (I170M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1532158	NM_181783.4(TMTC3):c.541G>A (p.Val181Met)	TMTC3 (V108M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1587328	NM_181783.4(TMTC3):c.570A>G (p.Gln190=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1510274	NM_181783.4(TMTC3):c.596G>A (p.Cys199Tyr)	TMTC3 (C110Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1464847	NM_181783.4(TMTC3):c.624+5G>A	TMTC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1935149	NM_181783.4(TMTC3):c.624+20T>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895863	NM_181783.4(TMTC3):c.625-9_625-5del	TMTC3	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2373088	NM_181783.4(TMTC3):c.631T>G (p.Leu211Val)	TMTC3 (L151V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2102417	NM_181783.4(TMTC3):c.636A>G (p.Pro212=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2983461	NM_181783.4(TMTC3):c.693T>C (p.Ser231=)	TMTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2277934	NM_181783.4(TMTC3):c.694A>G (p.Met232Val)	TMTC3 (M159V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2041760	NM_181783.4(TMTC3):c.697C>T (p.Leu233=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363766	NM_181783.4(TMTC3):c.716T>C (p.Leu239Pro)	TMTC3 (L166P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619071	NM_181783.4(TMTC3):c.730T>G (p.Phe244Val)	TMTC3 (F155V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1319671	NM_181783.4(TMTC3):c.747TGT[1] (p.Val251del)	TMTC3 (V162del +4 more)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3026289	NM_181783.4(TMTC3):c.749T>C (p.Val250Ala)	TMTC3 (V161A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2030185	NM_181783.4(TMTC3):c.774A>G (p.Gln258=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856229	NM_181783.4(TMTC3):c.777C>G (p.Ser259=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055108	NM_181783.4(TMTC3):c.786A>G (p.Pro262=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	TMTC3-related condition	GLikely benign
Select item 2690766	NM_181783.4(TMTC3):c.795dup (p.Arg266fs)	TMTC3 (R177fs +4 more)	Duplication (frameshift variant +1 more)	Lissencephaly 8	GLikely pathogenic
Select item 2019825	NM_181783.4(TMTC3):c.797+9T>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904229	NM_181783.4(TMTC3):c.797+14G>A	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180271	NM_181783.4(TMTC3):c.797+117A>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1033240	NM_181783.4(TMTC3):c.816T>A (p.Ala272=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 8	GUncertain significance
Select item 717658	NM_181783.4(TMTC3):c.825A>G (p.Pro275=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068783	NM_181783.4(TMTC3):c.832A>T (p.Thr278Ser)	TMTC3 (T218S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064748	NM_181783.4(TMTC3):c.838C>T (p.Gln280Ter)	TMTC3 (Q191* +4 more)	Single nucleotide variant (nonsense +1 more)	Lissencephaly 8	GLikely pathogenic
Select item 1983123	NM_181783.4(TMTC3):c.851A>G (p.Asn284Ser)	TMTC3 (N211S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2002666	NM_181783.4(TMTC3):c.872_875dup (p.Trp292fs)	TMTC3 (W203fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1578931	NM_181783.4(TMTC3):c.870T>C (p.Asn290=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	TMTC3-related condition +1 more	GLikely benign
Select item 2059433	NM_181783.4(TMTC3):c.895G>C (p.Glu299Gln)	TMTC3 (E210Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3180058	NM_181783.4(TMTC3):c.920G>A (p.Gly307Glu)	TMTC3 (G218E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231840	NM_181783.4(TMTC3):c.936A>G (p.Ile312Met)	TMTC3 (I223M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 488948	NM_181783.4(TMTC3):c.955C>T (p.Arg319Ter)	TMTC3 (R319* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2310517	NM_181783.4(TMTC3):c.996G>T (p.Met332Ile)	TMTC3 (M332I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489671	NM_181783.4(TMTC3):c.1010G>T (p.Ser337Ile)	TMTC3 (S277I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1914524	NM_181783.4(TMTC3):c.1015A>G (p.Arg339Gly)	TMTC3 (R279G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246216	NM_181783.4(TMTC3):c.1051-40A>T	TMTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970814	NM_181783.4(TMTC3):c.1051-16_1051-14del	TMTC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1902919	NM_181783.4(TMTC3):c.1051-6_1051-5dup	TMTC3	Duplication (intron variant)	TMTC3-related condition +1 more	GBenign/Likely benign
Select item 1276561	NM_181783.4(TMTC3):c.1051-5dup	TMTC3	Duplication (intron variant)	not provided	GBenign
Select item 1170483	NM_181783.4(TMTC3):c.1051-5del	TMTC3	Deletion (intron variant)	not provided	GBenign
Select item 1896431	NM_181783.4(TMTC3):c.1051-14T>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947125	NM_181783.4(TMTC3):c.1051-3T>C	TMTC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2053224	NM_181783.4(TMTC3):c.1082C>T (p.Pro361Leu)	TMTC3 (P130L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 793786	NM_181783.4(TMTC3):c.1086A>G (p.Ala362=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1545515	NM_181783.4(TMTC3):c.1125G>A (p.Glu375=)	TMTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1800718	NM_181783.4(TMTC3):c.1127G>A (p.Arg376Gln)	TMTC3 (R145Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930638	NM_181783.4(TMTC3):c.1138G>A (p.Val380Ile)	TMTC3 (V320I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2000253	NM_181783.4(TMTC3):c.1172A>G (p.His391Arg)	TMTC3 (H318R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908968	NM_181783.4(TMTC3):c.1186A>G (p.Ile396Val)	TMTC3 (I165V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126105	NM_181783.4(TMTC3):c.1221G>A (p.Trp407Ter)	TMTC3 (W176* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic

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