ClinVar for MedGen (Select 355626) - ClinVar - NCBI

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Items: 18

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13017991.	NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) GRCh37: Chr19:3589528 GRCh38: Chr19:3589530	GIPC3	G227E	Autosomal recessive nonsyndromic hearing loss 15	Uncertain significance (Oct 5, 2020)	criteria provided, single submitter
Select item 12455772.	NM_133261.3(GIPC3):c.226-22A>G GRCh37: Chr19:3586471 GRCh38: Chr19:3586473	GIPC3		Autosomal recessive nonsyndromic hearing loss 15, not provided	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11850573.	NM_133261.3(GIPC3):c.3_594del (p.Met1fs) GRCh37: Chr19:3585596-3586992 GRCh38: Chr19:3585598-3586994	GIPC3	M1fs	Autosomal recessive nonsyndromic hearing loss 15	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 10290684.	NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr) GRCh37: Chr19:3586992 GRCh38: Chr19:3586994	GIPC3	D198Y	Autosomal recessive nonsyndromic hearing loss 15	Uncertain significance (Aug 7, 2020)	criteria provided, single submitter
Select item 10276775.	NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro) GRCh37: Chr19:3586587 GRCh38: Chr19:3586589	GIPC3	R107P	Autosomal recessive nonsyndromic hearing loss 15	Uncertain significance (Sep 10, 2020)	no assertion criteria provided
Select item 7738976.	NM_133261.3(GIPC3):c.706-3dup GRCh37: Chr19:3589821-3589822 GRCh38: Chr19:3589823-3589824	GIPC3		not provided, Autosomal recessive nonsyndromic hearing loss 15	Benign/Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6274467.	NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) GRCh37: Chr19:3589847 GRCh38: Chr19:3589849	GIPC3	E242*	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 6176288.	NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln) GRCh37: Chr19:3590186 GRCh38: Chr19:3590188	GIPC3		Hearing impairment	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 5175969.	NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) GRCh37: Chr19:3586945 GRCh38: Chr19:3586947	GIPC3	K182T	not specified, Autosomal recessive nonsyndromic hearing loss 15, Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50457410.	NM_133261.3(GIPC3):c.915C>T (p.Gly305=) GRCh37: Chr19:3590164 GRCh38: Chr19:3590166	GIPC3		not specified, Autosomal recessive nonsyndromic hearing loss 15	Likely benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26231711.	NM_133261.3(GIPC3):c.57G>T (p.Ala19=) GRCh37: Chr19:3585652 GRCh38: Chr19:3585654	GIPC3		Autosomal recessive nonsyndromic hearing loss 15, not provided, not specified	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16350112.	NM_133261.3(GIPC3):c.69G>A (p.Ala23=) GRCh37: Chr19:3585664 GRCh38: Chr19:3585666	GIPC3		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 15	Benign/Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3075813.	NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) GRCh37: Chr19:3586965 GRCh38: Chr19:3586967	GIPC3	R189C	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3075714.	NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) GRCh37: Chr19:3585731 GRCh38: Chr19:3585733	GIPC3	G46R	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3075615.	NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) GRCh37: Chr19:3589890 GRCh38: Chr19:3589892	GIPC3	G256D	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3075516.	NM_133261.3(GIPC3):c.685dup (p.Ala229fs) GRCh37: Chr19:3589526-3589527 GRCh38: Chr19:3589528-3589529	GIPC3	A229fs	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Dec 1, 2011)	no assertion criteria provided
Select item 3075417.	NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) GRCh37: Chr19:3590152 GRCh38: Chr19:3590154	GIPC3	W301*	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Feb 15, 2011)	no assertion criteria provided
Select item 3075318.	NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) GRCh37: Chr19:3589908 GRCh38: Chr19:3589910	GIPC3	L262R	Autosomal recessive nonsyndromic hearing loss 15	Pathogenic (Feb 15, 2011)	no assertion criteria provided