ClinVar for MedGen (Select 4255) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9771371.	NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter) GRCh37: Chr11:61544931 GRCh38: Chr11:61777459	MYRF	Q587, Q596	Dextrocardia	Likely pathogenic (May 28, 2020)	criteria provided, single submitter
Select item 5455622.	NM_007192.4(SUPT16H):c.956-1G>A GRCh37: Chr14:21834689 GRCh38: Chr14:21366530	SUPT16H		Dextrocardia, Conotruncal defect	Uncertain significance (May 28, 2018)	no assertion criteria provided
Select item 5455613.	NM_021785.6(RAI2):c.712G>A (p.Val238Ile) GRCh37: ChrX:17819419 GRCh38: ChrX:17801299	RAI2	V238I, V188I	Dextrocardia	Uncertain significance (May 28, 2018)	no assertion criteria provided
Select item 5455604.	NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) GRCh37: Chr5:79752344 GRCh38: Chr5:80456525	ZFYVE16	G1252A	Dextrocardia	Uncertain significance (May 28, 2018)	no assertion criteria provided
Select item 5455595.	NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn) GRCh37: Chr5:79734302 GRCh38: Chr5:80438483	ZFYVE16	D600N	Dextrocardia	Uncertain significance (May 28, 2018)	no assertion criteria provided
Select item 5455566.	NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter) GRCh37: Chr2:11332802 GRCh38: Chr2:11192676	ROCK2	Q1242, Q1156	Dextrocardia	Uncertain significance (May 28, 2018)	no assertion criteria provided
Select item 4884117.	NM_145020.5(CFAP53):c.301_473+1del GRCh37: Chr18:47787433-47787606 GRCh38: Chr18:50261063-50261236	CFAP53		Dextrocardia	Likely pathogenic (Sep 1, 2015)	no assertion criteria provided
Select item 2171328.	NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) GRCh37: Chr18:47787435 GRCh38: Chr18:50261065	CFAP53	R158G	not provided	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter