ClinVar for MedGen (Select 1808104) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1198076	NM_019026.6(TMCO1):c.256-12G>A	TMCO1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 996015	NM_018840.5(RAB5IF):c.75G>A (p.Trp25Ter)	LOC130065793, RAB5IF +1 more (W25*)	Single nucleotide variant (nonsense +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more	GPathogenic/Likely pathogenic
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 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +20 more	GPathogenic
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 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 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 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 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