"GeneDx"[submitter] AND "TMCO1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 1222638	NM_019026.6(TMCO1):c.71-198G>C	TMCO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1296929	NM_019026.6(TMCO1):c.-90G>A	TMCO1 (G22R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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

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Items: 31