ClinVar for MedGen (Select 414526) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 31

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25823091.	NM_006907.4(PYCR1):c.-378G>C GRCh37: Chr17:79895068 GRCh38: Chr17:81937192	LOC130061991, PYCR1	V8L	Autosomal recessive cutis laxa type 2B	Uncertain significance (Aug 18, 2023)	criteria provided, single submitter
Select item 15262452.	NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr) GRCh37: Chr17:79892606 GRCh38: Chr17:81934730	PYCR1	D186Y, D213Y	Autosomal recessive cutis laxa type 2B	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 15261323.	NM_006907.4(PYCR1):c.540+1G>T GRCh37: Chr17:79892801 GRCh38: Chr17:81934925	PYCR1		Autosomal recessive cutis laxa type 2B	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 14412034.	NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) GRCh37: Chr17:79892209 GRCh38: Chr17:81934333	PYCR1	R291C, R233C, R264C	PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B, Inborn genetic diseases, not provided	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12587385.	NM_006907.4(PYCR1):c.138+37C>T GRCh37: Chr17:79893962 GRCh38: Chr17:81936086	PYCR1		Autosomal recessive cutis laxa type 2B, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10311086.	NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) GRCh37: Chr17:79892996 GRCh38: Chr17:81935120	PYCR1	R143G, R116G	Autosomal recessive cutis laxa type 2B	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 9960657.	NM_006907.4(PYCR1):c.728A>G (p.His243Arg) GRCh37: Chr17:79892271 GRCh38: Chr17:81934395	PYCR1	H212R, H243R, H270R	Autosomal recessive cutis laxa type 2B	Pathogenic	criteria provided, single submitter
Select item 9960648.	NM_006907.4(PYCR1):c.67+2T>A GRCh37: Chr17:79894622 GRCh38: Chr17:81936746	PYCR1		Autosomal recessive cutis laxa type 2B	Pathogenic	criteria provided, single submitter
Select item 9860919.	NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) GRCh37: Chr17:79892248 GRCh38: Chr17:81934372	PYCR1	R220C, R251C, R278C	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 15, 2022)	criteria provided, conflicting interpretations
Select item 97672410.	NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) GRCh37: Chr17:79892244 GRCh38: Chr17:81934368	PYCR1	S221F, S252F, S279F	Autosomal recessive cutis laxa type 2B, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 97488811.	NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) GRCh37: Chr17:79893310-79893311 GRCh38: Chr17:81935434-81935435	PYCR1	I101fs, I74fs	Autosomal recessive cutis laxa type 2B	Likely pathogenic	criteria provided, single submitter
Select item 97323212.	NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) GRCh37: Chr17:79892603 GRCh38: Chr17:81934727	PYCR1	A187T, A214T	Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 16, 2019)	criteria provided, conflicting interpretations
Select item 89015013.	NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) GRCh37: Chr17:79892834 GRCh38: Chr17:81934958	PYCR1	V197I, V170I	Cutis laxa, not provided, Inborn genetic diseases, PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82779314.	NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) GRCh37: Chr17:79892605 GRCh38: Chr17:81934729	PYCR1	D186G, D213G	Autosomal recessive cutis laxa type 2B	Likely pathogenic (May 16, 2019)	criteria provided, single submitter
Select item 80097315.	NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) GRCh37: Chr17:79891184 GRCh38: Chr17:81933308	PYCR1	K289R, K316R, K258R	not specified	Uncertain significance (Jul 21, 2023)	criteria provided, single submitter
Select item 69471916.	NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) GRCh37: Chr17:79892277 GRCh38: Chr17:81934401	PYCR1	A210V, A241V, A268V	Autosomal recessive cutis laxa type 2B	Pathogenic	criteria provided, single submitter
Select item 69471217.	NM_006907.4(PYCR1):c.540+1G>A GRCh37: Chr17:79892801 GRCh38: Chr17:81934925	PYCR1		not provided, PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B	Pathogenic (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69468118.	NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) GRCh37: Chr17:79894680 GRCh38: Chr17:81936804	PYCR1	G31V, G4V	Autosomal recessive cutis laxa type 2B	Pathogenic	criteria provided, single submitter
Select item 49796919.	NM_006907.4(PYCR1):c.903A>G (p.Ser301=) GRCh37: Chr17:79891147 GRCh38: Chr17:81933271	PYCR1		not provided, Autosomal recessive cutis laxa type 2B, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48845720.	NM_006907.4(PYCR1):c.59dup (p.Ala21fs) GRCh37: Chr17:79894631-79894632 GRCh38: Chr17:81936755-81936756	PYCR1	A21fs, A48fs	not provided	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 48845621.	NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) GRCh37: Chr17:79892987 GRCh38: Chr17:81935111	PYCR1	R119C, R146C	Cutis laxa, not provided, Autosomal recessive cutis laxa type 2B	Pathogenic (Oct 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44909122.	NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) GRCh37: Chr17:79892807 GRCh38: Chr17:81934931	PYCR1	A179T, A206T	Autosomal recessive cutis laxa type 2B, not provided, Cutis laxa	Pathogenic/Likely pathogenic (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42304623.	NM_006907.4(PYCR1):c.67+10del GRCh37: Chr17:79894614 GRCh38: Chr17:81936738	PYCR1		Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome, not provided, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28226524.	NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) GRCh37: Chr17:79893008 GRCh38: Chr17:81935132	PYCR1	R112W, R139W	not provided, PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B, Cutis laxa	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 1319725.	NM_006907.4(PYCR1):c.356G>A (p.Arg119His) GRCh37: Chr17:79892986 GRCh38: Chr17:81935110	PYCR1	R119H, R146H	not provided, PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B	Pathogenic/Likely pathogenic (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1319626.	NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) GRCh37: Chr17:79892987 GRCh38: Chr17:81935111	PYCR1	R119G, R146G	Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 1319527.	NM_006907.4(PYCR1):c.11del (p.Gly4fs) GRCh37: Chr17:79894680 GRCh38: Chr17:81936804	PYCR1	G31fs, G4fs	Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 1319428.	NM_006907.4(PYCR1):c.797+2_797+5del GRCh37: Chr17:79892197-79892200 GRCh38: Chr17:81934321-81934324	PYCR1		Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 1319229.	NM_006907.4(PYCR1):c.618_633+7del GRCh37: Chr17:79892522-79892544 GRCh38: Chr17:81934646-81934668	PYCR1		Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 1319130.	NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) GRCh37: Chr17:79892546 GRCh38: Chr17:81934670	PYCR1	G206W, G233W	Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 1, 2009)	no assertion criteria provided
Select item 1319031.	NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) GRCh37: Chr17:79892202 GRCh38: Chr17:81934326	PYCR1	R266Q, R235Q, R293Q	Inborn genetic diseases, Cutis laxa, not provided, Autosomal recessive cutis laxa type 2B	Pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 31