ClinVar for MedGen (Select 481641) - ClinVar

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Items: 41

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277921.	NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter) GRCh37: Chr4:121719574 GRCh38: Chr4:120798419	PRDM5	R315, R346, R357*	Brittle cornea syndrome 2	Pathogenic	criteria provided, single submitter
Select item 25853622.	NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe) GRCh37: Chr4:121843720 GRCh38: Chr4:120922565	PRDM5	S15F	Brittle cornea syndrome 2	Uncertain significance	criteria provided, single submitter
Select item 25012363.	NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter) GRCh37: Chr4:121738072 GRCh38: Chr4:120816917	PRDM5	Q220*	Brittle cornea syndrome 2	Likely pathogenic (Mar 30, 2023)	criteria provided, single submitter
Select item 21784714.	NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg) GRCh37: Chr4:121732572 GRCh38: Chr4:120811417	PRDM5	C300R, C269R	Cardiovascular phenotype, Brittle cornea syndrome 2, not provided	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17608575.	NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser) GRCh37: Chr4:121737690 GRCh38: Chr4:120816535	PRDM5	R230S, R261S	Cardiovascular phenotype, Brittle cornea syndrome 2	Uncertain significance (Apr 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17601816.	NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp) GRCh37: Chr4:121737704 GRCh38: Chr4:120816549	PRDM5	R257W, R226W	Brittle cornea syndrome 2, Cardiovascular phenotype	Uncertain significance (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17108957.	NM_018699.4(PRDM5):c.1513dup (p.Arg505fs) GRCh37: Chr4:121698366-121698367 GRCh38: Chr4:120777211-120777212	PRDM5	R474fs, R505fs, R516fs	not provided, Brittle cornea syndrome 2	Pathogenic/Likely pathogenic (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17045868.	NM_018699.4(PRDM5):c.475+2T>C GRCh37: Chr4:121742324 GRCh38: Chr4:120821169	PRDM5		Brittle cornea syndrome 2	Likely pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 16833649.	NM_018699.4(PRDM5):c.1785_1786del (p.His595fs) GRCh37: Chr4:121616373-121616374 GRCh38: Chr4:120695218-120695219	PRDM5	H529fs, H564fs, H595fs, H606fs	Brittle cornea syndrome 2	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 167717110.	NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) GRCh37: Chr4:121631542 GRCh38: Chr4:120710387	PRDM5	C519, C550, C561*, Q491K	Brittle cornea syndrome 2	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 135940811.	NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) GRCh37: Chr4:121737990 GRCh38: Chr4:120816835	PRDM5	S247L	not provided, Brittle cornea syndrome 2	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133986812.	NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) GRCh37: Chr4:121706227 GRCh38: Chr4:120785072	PRDM5	P372R, P403R, P414R	Inborn genetic diseases	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 129721813.	NM_018699.4(PRDM5):c.744-38C>T GRCh37: Chr4:121737767 GRCh38: Chr4:120816612	PRDM5		not provided, Brittle cornea syndrome 2	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98104414.	NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) GRCh37: Chr4:121774626 GRCh38: Chr4:120853471	PRDM5	R83C	Cardiovascular phenotype, Brittle cornea syndrome 2	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 98104315.	NM_018699.4(PRDM5):c.1858del (p.His620fs) GRCh37: Chr4:121616301 GRCh38: Chr4:120695146	PRDM5	H554fs, H589fs, H620fs, H631fs	Brittle cornea syndrome 2	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 98104216.	NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) GRCh37: Chr4:121843747 GRCh38: Chr4:120922592	PRDM5	V6G	Brittle cornea syndrome 2	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 93172117.	NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) GRCh37: Chr4:121702429 GRCh38: Chr4:120781274	PRDM5	D438N, D407N, D449N	Brittle cornea syndrome 2	Uncertain significance (Sep 16, 2019)	criteria provided, single submitter
Select item 90255918.	NM_018699.4(PRDM5):c.1538-5T>G GRCh37: Chr4:121675798 GRCh38: Chr4:120754643	PRDM5		Brittle cornea syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90090519.	NM_018699.4(PRDM5):c.475+9T>A GRCh37: Chr4:121742317 GRCh38: Chr4:120821162	PRDM5		Brittle cornea syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90090420.	NM_018699.4(PRDM5):c.650+7A>G GRCh37: Chr4:121739501 GRCh38: Chr4:120818346	PRDM5		not provided, Brittle cornea syndrome 2	Conflicting interpretations of pathogenicity (Apr 29, 2022)	criteria provided, conflicting interpretations
Select item 80967421.	NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) GRCh37: Chr4:121737634 GRCh38: Chr4:120816479	PRDM5	K280R, K249R	not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome, Brittle cornea syndrome 2	Conflicting interpretations of pathogenicity (Feb 16, 2023)	criteria provided, conflicting interpretations
Select item 51218622.	NM_018699.4(PRDM5):c.1031-15T>C GRCh37: Chr4:121719594 GRCh38: Chr4:120798439	PRDM5	L350P	not provided, Brittle cornea syndrome 2, not specified	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 50701623.	NM_018699.4(PRDM5):c.1282+9C>T GRCh37: Chr4:121706144 GRCh38: Chr4:120784989	PRDM5		not specified, not provided, Brittle cornea syndrome 2, Ehlers-Danlos syndrome	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44980624.	NM_018699.4(PRDM5):c.248G>A (p.Arg83His) GRCh37: Chr4:121774625 GRCh38: Chr4:120853470	PRDM5	R83H	Brittle cornea syndrome 2, not provided, Cardiovascular phenotype	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42096025.	NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) GRCh37: Chr4:121738060 GRCh38: Chr4:120816905	PRDM5	K224*	not provided, Brittle cornea syndrome 2	Conflicting interpretations of pathogenicity (Apr 22, 2022)	criteria provided, conflicting interpretations
Select item 39216526.	NM_018699.4(PRDM5):c.300+17C>T GRCh37: Chr4:121774556 GRCh38: Chr4:120853401	PRDM5		Brittle cornea syndrome 2, not specified	Likely benign (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34745527.	NM_018699.4(PRDM5):c.94-10T>G GRCh37: Chr4:121828722 GRCh38: Chr4:120907567	PRDM5		Brittle cornea syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34744728.	NM_018699.4(PRDM5):c.650+5G>A GRCh37: Chr4:121739503 GRCh38: Chr4:120818348	PRDM5		not provided, Brittle cornea syndrome 2	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34744629.	NM_018699.4(PRDM5):c.650+7A>T GRCh37: Chr4:121739501 GRCh38: Chr4:120818346	PRDM5		Brittle cornea syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34744330.	NM_018699.4(PRDM5):c.743+14G>A GRCh37: Chr4:121737973 GRCh38: Chr4:120816818	PRDM5		not provided, Brittle cornea syndrome 2	Benign (Aug 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34744131.	NM_018699.4(PRDM5):c.946-9C>T GRCh37: Chr4:121720909 GRCh38: Chr4:120799754	PRDM5		Brittle cornea syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34743832.	NM_018699.4(PRDM5):c.1189-14T>C GRCh37: Chr4:121706260 GRCh38: Chr4:120785105	PRDM5		Brittle cornea syndrome 2, not provided	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 34743633.	NM_018699.4(PRDM5):c.1283-5C>T GRCh37: Chr4:121702463 GRCh38: Chr4:120781308	PRDM5		Brittle cornea syndrome 2, Ehlers-Danlos syndrome, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 34743334.	NM_018699.4(PRDM5):c.1623+8T>C GRCh37: Chr4:121675700 GRCh38: Chr4:120754545	PRDM5		Brittle cornea syndrome 2, not provided	Conflicting interpretations of pathogenicity (May 30, 2022)	criteria provided, conflicting interpretations
Select item 19534335.	NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) GRCh37: Chr4:121828700 GRCh38: Chr4:120907545	PRDM5	G36R	Ehlers-Danlos syndrome, not provided, Brittle cornea syndrome 2	Conflicting interpretations of pathogenicity (May 16, 2022)	criteria provided, conflicting interpretations
Select item 3111536.	NM_018699.4(PRDM5):c.93+2T>C GRCh37: Chr4:121843669 GRCh38: Chr4:120922514	PRDM5		Brittle cornea syndrome 2	Pathogenic (Feb 1, 2012)	no assertion criteria provided
Select item 3111437.	NM_018699.4(PRDM5):c.974del (p.Cys325fs) GRCh37: Chr4:121720872 GRCh38: Chr4:120799717	PRDM5	C294fs, C325fs	Ehlers-Danlos syndrome, not provided, Brittle cornea syndrome 2	Pathogenic (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3111338.	NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) GRCh37: Chr4:121742481 GRCh38: Chr4:120821326	PRDM5	Y107C	Brittle cornea syndrome 2	Pathogenic (Jun 10, 2011)	no assertion criteria provided
Select item 3111239.	NM_018699.4(PRDM5):c.93+1G>A GRCh37: Chr4:121843670 GRCh38: Chr4:120922515	PRDM5		Brittle cornea syndrome 2	Pathogenic (Jun 10, 2011)	no assertion criteria provided
Select item 3111140.	NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) GRCh37: Chr4:121616391 GRCh38: Chr4:120695236	PRDM5	R590, R559, R524, R601	not provided	Pathogenic (Mar 1, 2020)	criteria provided, single submitter
Select item 3111041.	NM_018699.3(PRDM5):c.946_1623del	PRDM5		Brittle cornea syndrome 2	Pathogenic (Jun 10, 2011)	no assertion criteria provided

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Items: 41