54499[geneid] - ClinVar

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

Search results

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)	not provided +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)	Cerebro facio thoracic dysplasia +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)	not provided +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 (5 prime UTR 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	NM_019026.4(TMCO1):c.6C>G (p.Pro2=)	TMCO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1273808	NR_125374.1(TMCO1-AS1):n.146A>T	TMCO1, TMCO1-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1249912	NR_125374.1(TMCO1-AS1):n.298G>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	ATP8B2, AVPR1B +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80