ClinVar for MedGen (Select 481672) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791951.	NM_001242957.3:c.1297_1298insAlu	MAK		Retinitis pigmentosa 62	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 18107622.	NM_001242957.3(MAK):c.7_10dup (p.Tyr4fs) GRCh37: Chr6:10830871-10830872 GRCh38: Chr6:10830638-10830639	MAK	Y4fs	Retinitis pigmentosa 62	Pathogenic (Jan 12, 2023)	criteria provided, single submitter
Select item 15184713.	NM_001242957.3(MAK):c.832-1G>C GRCh37: Chr6:10796543 GRCh38: Chr6:10796310	MAK		Retinitis pigmentosa 62, not provided	Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14354084.	NM_001242957.3(MAK):c.1143+6T>C GRCh37: Chr6:10796225 GRCh38: Chr6:10795992	MAK		Retinitis pigmentosa 62, not provided	Uncertain significance (Oct 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13269725.	NM_001242957.3(MAK):c.1930T>C (p.Tyr644His) GRCh37: Chr6:10764702 GRCh38: Chr6:10764469	MAK	Y545H, Y579H, Y619H, Y644H	Retinitis pigmentosa 62, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10657746.	NM_001242957.3(MAK):c.366dup (p.His123fs) GRCh37: Chr6:10809167-10809168 GRCh38: Chr6:10808934-10808935	MAK	H123fs, H89fs	Retinitis pigmentosa 62	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 10657737.	NM_001242957.3(MAK):c.1143+2_1143+3del GRCh37: Chr6:10796228-10796229 GRCh38: Chr6:10795995-10795996	MAK		Retinitis pigmentosa 62	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 10346598.	NM_001242957.3(MAK):c.356A>G (p.His119Arg) GRCh37: Chr6:10813879 GRCh38: Chr6:10813646	MAK	H119R, H85R	Inborn genetic diseases, not provided, Retinitis pigmentosa 62	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9516119.	NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg) GRCh37: Chr6:10764798 GRCh38: Chr6:10764565	MAK	G587R, G612R, G513R, G547R	not provided, Retinitis pigmentosa 62	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 93522910.	NM_001242957.3(MAK):c.647T>C (p.Leu216Ser) GRCh37: Chr6:10803969 GRCh38: Chr6:10803736	MAK	L182S, L216S	Retinitis pigmentosa 62, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86615311.	NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs) GRCh37: Chr6:10784765-10784766 GRCh38: Chr6:10784532-10784533	MAK	E420fs, E454fs	not provided, Retinitis pigmentosa 62, Retinal dystrophy	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35480112.	NM_001242957.3(MAK):c.843C>T (p.His281=) GRCh37: Chr6:10796531 GRCh38: Chr6:10796298	MAK		Retinitis Pigmentosa, Recessive, not provided, Retinitis pigmentosa 62	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 35478313.	NM_001242957.3(MAK):c.1905T>C (p.His635=) GRCh37: Chr6:10764727 GRCh38: Chr6:10764494	MAK		Retinitis Pigmentosa, Recessive, not provided, Retinitis pigmentosa 62	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19436214.	NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) GRCh37: Chr6:10770421 GRCh38: Chr6:10770188	MAK	I572T, I547T	Retinitis Pigmentosa, Recessive, not specified, not provided, Retinitis pigmentosa 62	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 2978415.	NM_001242957.3(MAK):c.497G>A (p.Arg166His) GRCh37: Chr6:10804119 GRCh38: Chr6:10803886	MAK	R166H, R132H	not provided, Retinitis pigmentosa 62	Pathogenic (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2978316.	NM_001242957.3(MAK):c.37G>A (p.Gly13Ser) GRCh37: Chr6:10830845 GRCh38: Chr6:10830612	MAK	G13S	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 2978217.	NM_001242957.3(MAK):c.388A>C (p.Asn130His) GRCh37: Chr6:10809146 GRCh38: Chr6:10808913	MAK	N130H, N96H	Retinitis pigmentosa 62	Pathogenic (Aug 12, 2011)	no assertion criteria provided
Select item 2978118.	NM_001242957.3(MAK):c.718C>T (p.Gln240Ter) GRCh37: Chr6:10802238 GRCh38: Chr6:10802005	MAK	Q240, Q206	Retinitis pigmentosa 62	Pathogenic (Aug 12, 2011)	no assertion criteria provided
Select item 2978019.	MAK, 353-BP ALU INS, EX9	MAK		Retinitis pigmentosa 62	Pathogenic (Aug 23, 2011)	no assertion criteria provided