ClinVar for MedGen (Select 1648322) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16972271.	NM_020198.3(CCDC47):c.563del (p.Asn188fs) GRCh37: Chr17:61838696 GRCh38: Chr17:63761336	CCDC47	N188fs	Trichohepatoneurodevelopmental syndrome	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 15262402.	NM_020198.3(CCDC47):c.1211_1232dup (p.Ala411_Arg412insLysSerArgTer) GRCh37: Chr17:61829438-61829439 GRCh38: Chr17:63752078-63752079	CCDC47		Trichohepatoneurodevelopmental syndrome	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 15262093.	NM_020198.3(CCDC47):c.669+5G>T GRCh37: Chr17:61838585 GRCh38: Chr17:63761225	CCDC47		Trichohepatoneurodevelopmental syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 11927014.	NM_020198.3(CCDC47):c.735+15C>T GRCh37: Chr17:61838259 GRCh38: Chr17:63760899	CCDC47		Trichohepatoneurodevelopmental syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11927005.	NM_020198.3(CCDC47):c.1093+112G>A GRCh37: Chr17:61829989 GRCh38: Chr17:63752629	CCDC47		Trichohepatoneurodevelopmental syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 9930356.	NM_020198.3(CCDC47):c.567_570del (p.Glu190fs) GRCh37: Chr17:61838689-61838692 GRCh38: Chr17:63761329-63761332	CCDC47	E190fs	Trichohepatoneurodevelopmental syndrome	Likely pathogenic	criteria provided, single submitter
Select item 5621877.	NM_020198.3(CCDC47):c.1145del (p.Leu382fs) GRCh37: Chr17:61829738 GRCh38: Chr17:63752378	CCDC47	L382fs	Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair	Likely pathogenic (Sep 24, 2018)	criteria provided, single submitter
Select item 5621868.	NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter) GRCh37: Chr17:61833855 GRCh38: Chr17:63756495	CCDC47	R271*	Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair	Likely pathogenic (Sep 24, 2018)	criteria provided, single submitter
Select item 5621859.	NM_020198.3(CCDC47):c.1165del (p.Ser389fs) GRCh37: Chr17:61829718 GRCh38: Chr17:63752358	CCDC47	S389fs	Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair	Likely pathogenic (Sep 24, 2018)	criteria provided, single submitter
Select item 56218410.	NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) GRCh37: Chr17:61829694 GRCh38: Chr17:63752334	CCDC47	R397*	not provided, Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair	Pathogenic/Likely pathogenic (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts