54499[geneid] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 3178296	NM_019026.6(TMCO1):c.533T>C (p.Leu178Pro)	TMCO1 (L166P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2969136	NM_019026.6(TMCO1):c.507C>T (p.Ala169=)	TMCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598949	NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)	TMCO1 (A153fs +1 more)	Deletion (frameshift variant +1 more)	See cases +7 more	GLikely pathogenic
Select item 1235043	NM_019026.6(TMCO1):c.486C>T (p.Leu162=)	TMCO1	Single nucleotide variant (synonymous variant +1 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +1 more	GBenign
Select item 1277148	NM_019026.6(TMCO1):c.469-153dup	TMCO1	Duplication (intron variant)	not provided	GBenign
Select item 1191700	NM_019026.6(TMCO1):c.468+129T>C	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	Cleft palate +20 more	GPathogenic
Select item 1898076	NM_019026.6(TMCO1):c.458C>T (p.Ser153Leu)	TMCO1 (S141L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875649	NM_019026.6(TMCO1):c.417A>G (p.Thr139=)	TMCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 521929	NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)	TMCO1 (R148* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1693098	NM_019026.6(TMCO1):c.383T>C (p.Leu128Pro)	TMCO1 (L116P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 521850	NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)	TMCO1 (Y141* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2281638	NM_019026.6(TMCO1):c.367T>C (p.Ser123Pro)	TMCO1 (S111P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293830	NM_019026.6(TMCO1):c.340G>T (p.Val114Leu)	TMCO1 (V114L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316832	NM_019026.6(TMCO1):c.337G>C (p.Val113Leu)	TMCO1 (V113L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1156516	NM_019026.6(TMCO1):c.324-7C>T	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770495	NM_019026.6(TMCO1):c.324-8dup	TMCO1	Duplication (intron variant)	not provided	GBenign
Select item 767722	NM_019026.6(TMCO1):c.324-8del	TMCO1	Deletion (intron variant)	not provided	GBenign
Select item 1283707	NM_019026.6(TMCO1):c.323+116A>G	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192728	NM_019026.6(TMCO1):c.323+36A>G	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218899	NM_019026.6(TMCO1):c.323+3G>C	TMCO1	Single nucleotide variant (intron variant)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GPathogenic
Select item 1979746	NM_019026.6(TMCO1):c.260G>C (p.Arg87Pro)	TMCO1 (R75P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 88739	NM_019026.6(TMCO1):c.259C>T (p.Arg87Ter)	TMCO1 (R138* +2 more)	Single nucleotide variant (nonsense +1 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GPathogenic
Select item 2190367	NM_019026.6(TMCO1):c.256-7A>G	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198076	NM_019026.6(TMCO1):c.256-12G>A	TMCO1	Single nucleotide variant (intron variant)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +1 more	GBenign/Likely benign
Select item 1258547	NM_019026.6(TMCO1):c.256-43_256-42dup	TMCO1	Duplication (intron variant)	not provided	GBenign
Select item 1280760	NM_019026.6(TMCO1):c.256-35del	TMCO1	Deletion (intron variant)	not provided	GBenign
Select item 1284250	NM_019026.6(TMCO1):c.256-83del	TMCO1	Deletion (intron variant)	not provided	GBenign
Select item 1231748	NM_019026.6(TMCO1):c.256-83T>A	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205381	NM_019026.6(TMCO1):c.256-103dup	TMCO1	Duplication (intron variant)	not provided	GLikely benign
Select item 1328653	NM_019026.6(TMCO1):c.256-145_256-144dup	TMCO1	Duplication (intron variant)	not provided	GLikely benign
Select item 1214263	NM_019026.6(TMCO1):c.256-187G>T	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218484	NM_019026.6(TMCO1):c.255+261del	TMCO1	Deletion (intron variant)	not provided	GLikely benign
Select item 1232461	NM_019026.6(TMCO1):c.209-215A>G	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273908	NM_019026.6(TMCO1):c.209-259T>C	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210603	NM_019026.6(TMCO1):c.208+286A>G	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265628	NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter)	TMCO1 (R114* +2 more)	Single nucleotide variant (nonsense +1 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +1 more	GPathogenic
Select item 1253963	NM_019026.6(TMCO1):c.148+136T>C	TMCO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331642	NM_019026.6(TMCO1):c.147dup (p.Leu50fs)	TMCO1 (L38fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 420165	NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	TMCO1	Microsatellite (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1313328	NM_019026.6(TMCO1):c.106_111del (p.Tyr36_Lys37del)	TMCO1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 189248	NM_019026.6(TMCO1):c.87_90del (p.Val30fs)	TMCO1 (V18fs)	Deletion (frameshift variant +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GPathogenic
Select item 1222638	NM_019026.6(TMCO1):c.71-198G>C	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956322	NM_019026.6(TMCO1):c.70+7G>A	TMCO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1986323	NM_019026.6(TMCO1):c.70+5G>C	TMCO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1711875	NM_019026.6(TMCO1):c.70G>A (p.Gly24Ser)	TMCO1 (G24S)	Single nucleotide variant (5 prime UTR variant +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GLikely pathogenic
Select item 1696843	NM_019026.6(TMCO1):c.70G>C (p.Gly24Arg)	TMCO1 (G24R)	Single nucleotide variant (5 prime UTR variant +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GPathogenic
Select item 2258675	NM_019026.6(TMCO1):c.52A>C (p.Thr18Pro)	TMCO1 (T18P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 873451	NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe)	TMCO1 (S15F)	Single nucleotide variant (5 prime UTR variant +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GUncertain significance
Select item 591024	NM_019026.6(TMCO1):c.26dup (p.Leu10fs)	TMCO1 (L10fs)	Duplication (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1325197	NM_019026.6(TMCO1):c.-33del	TMCO1 (W41fs)	Deletion (frameshift variant +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	GLikely pathogenic
Select item 2063507	NM_019026.6(TMCO1):c.-50G>A	TMCO1 (C35Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 737458	NM_019026.6(TMCO1):c.-66T>C	TMCO1 (F30L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2909354	NM_019026.6(TMCO1):c.-69C>T	TMCO1 (R29C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2043710	NM_019026.6(TMCO1):c.-76C>G	TMCO1 (S26R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1296929	NM_019026.6(TMCO1):c.-90G>A	TMCO1 (G22R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1421547	NM_019026.6(TMCO1):c.-117A>G	TMCO1 (R13G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2768020	NC_000001.11:g.165768899G>C	TMCO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1273808	NC_000001.11:g.165769074A>T	TMCO1, TMCO1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1249912	NC_000001.11:g.165769226G>C	TMCO1, TMCO1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3248013	NC_000001.10:g.(?_165697260)_(165738141_?)del	TMCO1	Deletion	not provided	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 624496	GRCh37/hg19 1q24.1(chr1:165664534-165767373)x1	ALDH9A1, TMCO1	Copy number loss	not provided	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 80