ClinVar for MedGen (Select 1647359) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24323331.	NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met) GRCh37: Chr6:43592408 GRCh38: Chr6:43624671	GTPBP2, POLR1C	I225M, I313M	Jaberi-Elahi syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 24125952.	NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter) GRCh37: Chr6:43596892 GRCh38: Chr6:43629155	GTPBP2, LOC129996523, POLR1C	S3*	Jaberi-Elahi syndrome	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 17052643.	NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter) GRCh37: Chr6:43593150 GRCh38: Chr6:43625413	GTPBP2, POLR1C	R131*	Jaberi-Elahi syndrome	Pathogenic (Sep 13, 2022)	no assertion criteria provided
Select item 17052634.	NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter) GRCh37: Chr6:43589814 GRCh38: Chr6:43622077	GTPBP2, POLR1C	R432*	Jaberi-Elahi syndrome	Pathogenic (Sep 13, 2022)	no assertion criteria provided
Select item 13332775.	NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs) GRCh37: Chr6:43592293-43592294 GRCh38: Chr6:43624556-43624557	GTPBP2, POLR1C	E264fs, E352fs	Jaberi-Elahi syndrome	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13245186.	NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs) GRCh37: Chr6:43591718-43591719 GRCh38: Chr6:43623981-43623982	GTPBP2, POLR1C	N309fs, N397fs	Jaberi-Elahi syndrome	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 9748427.	NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) GRCh37: Chr6:43589844-43589845 GRCh38: Chr6:43622107-43622108	GTPBP2, POLR1C	E421fs, E509fs	Jaberi-Elahi syndrome	Likely pathogenic	criteria provided, single submitter
Select item 8009418.	NM_019096.5(GTPBP2):c.1236+1G>A GRCh37: Chr6:43591669 GRCh38: Chr6:43623932	GTPBP2, POLR1C		Jaberi-Elahi syndrome	Likely pathogenic	criteria provided, single submitter
Select item 5446899.	NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter) GRCh37: Chr6:43590429 GRCh38: Chr6:43622692	GTPBP2, POLR1C	R470, R382	Jaberi-Elahi syndrome	Pathogenic (Sep 13, 2022)	no assertion criteria provided
Select item 54468810.	NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter) GRCh37: Chr6:43591687 GRCh38: Chr6:43623950	GTPBP2, POLR1C	Q407, Q319	Jaberi-Elahi syndrome	Pathogenic (May 22, 2018)	no assertion criteria provided
Select item 54468711.	NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter) GRCh37: Chr6:43593570 GRCh38: Chr6:43625833	GTPBP2, POLR1C	R144, R56	Jaberi-Elahi syndrome	Pathogenic (May 22, 2018)	no assertion criteria provided
Select item 54468612.	NM_019096.5(GTPBP2):c.1237-1G>T GRCh37: Chr6:43591533 GRCh38: Chr6:43623796	GTPBP2, POLR1C		Jaberi-Elahi syndrome	Pathogenic (May 23, 2018)	no assertion criteria provided