ClinVar for MedGen (Select 42055) - ClinVar

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Items: 26

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25809181.	NM_203475.3(PORCN):c.329+1G>C GRCh37: ChrX:48369876 GRCh38: ChrX:48511488	PORCN		Focal dermal hypoplasia	Uncertain significance	criteria provided, single submitter
Select item 25023102.	NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn) GRCh37: ChrX:48374329-48374330 GRCh38: ChrX:48515941-48515942	PORCN		Focal dermal hypoplasia	Likely pathogenic	criteria provided, single submitter
Select item 25022993.	NM_203475.3(PORCN):c.137-1G>C GRCh37: ChrX:48369682 GRCh38: ChrX:48511294	PORCN		Focal dermal hypoplasia	Pathogenic	criteria provided, single submitter
Select item 18040294.	NM_203475.3(PORCN):c.341T>G (p.Met114Arg) GRCh37: ChrX:48370291 GRCh38: ChrX:48511903	PORCN	M114R, M43R	Focal dermal hypoplasia	Likely pathogenic (Oct 30, 2020)	criteria provided, single submitter
Select item 17580585.	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter) GRCh37: ChrX:48372635 GRCh38: ChrX:48514247	PORCN	R232, R237, R238, R161, R243*	Inborn genetic diseases, Focal dermal hypoplasia	Pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13389756.	NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter) GRCh37: ChrX:48375583 GRCh38: ChrX:48517195	PORCN	R314, R385, R390, R391, R396*	not provided, Focal dermal hypoplasia	Pathogenic/Likely pathogenic (Oct 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13234917.	NM_203475.3(PORCN):c.946+2_946+3del GRCh37: ChrX:48373013-48373014 GRCh38: ChrX:48514625-48514626	PORCN		Focal dermal hypoplasia, not provided	Pathogenic (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13155058.	NM_203475.3(PORCN):c.374-2A>G GRCh37: ChrX:48370712 GRCh38: ChrX:48512324	PORCN		Focal dermal hypoplasia	Pathogenic	no assertion criteria provided
Select item 12983809.	NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) GRCh37: ChrX:48372690 GRCh38: ChrX:48514302	PORCN	L179P, L250P, L255P, L256P, L261P	Focal dermal hypoplasia	Likely pathogenic (Sep 7, 2021)	criteria provided, single submitter
Select item 102795610.	NM_203475.3(PORCN):c.964C>G (p.Leu322Val) GRCh37: ChrX:48374122 GRCh38: ChrX:48515734	PORCN	L240V, L317V, L322V, L311V, L316V	Focal dermal hypoplasia	Uncertain significance (Nov 8, 2019)	criteria provided, single submitter
Select item 99804111.	NM_203475.3(PORCN):c.49_80del (p.Cys17fs) GRCh37: ChrX:48368257-48368288 GRCh38: ChrX:48509869-48509900	PORCN	C17fs	Focal dermal hypoplasia	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99615112.	NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) GRCh37: ChrX:48374159 GRCh38: ChrX:48515771	PORCN	Y252C, Y323C, Y328C, Y329C, Y334C	Focal dermal hypoplasia	Likely pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 98751313.	NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) GRCh37: ChrX:48374455 GRCh38: ChrX:48516067	PORCN	R283Q, R354Q, R359Q, R360Q, R365Q	not provided, Focal dermal hypoplasia	Pathogenic (Aug 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98465414.	NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) GRCh37: ChrX:48372951 GRCh38: ChrX:48514563	PORCN	P213L, P284L, P289L, P290L, P295L	Focal dermal hypoplasia	Likely pathogenic (Sep 11, 2020)	no assertion criteria provided
Select item 82816415.	NM_203475.3(PORCN):c.329+1G>A GRCh37: ChrX:48369876 GRCh38: ChrX:48511488	PORCN		Focal dermal hypoplasia	Likely pathogenic (Feb 5, 2020)	no assertion criteria provided
Select item 81393716.	NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) GRCh37: ChrX:48369829 GRCh38: ChrX:48511441	PORCN	R95, R24	Focal dermal hypoplasia	Pathogenic (Dec 3, 2018)	criteria provided, single submitter
Select item 69460417.	NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) GRCh37: ChrX:48368290 GRCh38: ChrX:48509902	PORCN	Q28*	Focal dermal hypoplasia	Pathogenic (Oct 1, 2019)	no assertion criteria provided
Select item 69199818.	NM_203475.3(PORCN):c.1356del (p.Cys453fs) GRCh37: ChrX:48378834 GRCh38: ChrX:48520446	PORCN	C371fs, C442fs, C447fs, C448fs, C453fs	Focal dermal hypoplasia	Likely pathogenic (Sep 27, 2017)	criteria provided, single submitter
Select item 48781219.	NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) GRCh37: ChrX:48372920-48372921 GRCh38: ChrX:48514532-48514533	PORCN	T274fs, T280fs, T203fs, T279fs, T285fs	Focal dermal hypoplasia	Uncertain significance (Sep 6, 2016)	no assertion criteria provided
Select item 48781120.	NM_203475.3(PORCN):c.1023+2T>A GRCh37: ChrX:48374183 GRCh38: ChrX:48515795	PORCN		Focal dermal hypoplasia	Pathogenic (May 27, 2017)	no assertion criteria provided
Select item 37424521.	NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) GRCh37: ChrX:48370986 GRCh38: ChrX:48512598	PORCN	W189R, W118R	Focal dermal hypoplasia	Likely pathogenic	no assertion criteria provided
Select item 24287222.	NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) GRCh37: ChrX:48369814 GRCh38: ChrX:48511426	PORCN	R90, R19	Inborn genetic diseases, Focal dermal hypoplasia	Pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1070323.	NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) GRCh37: ChrX:48369768 GRCh38: ChrX:48511380	PORCN	W74, W3	not provided	Pathogenic (Dec 13, 2022)	criteria provided, single submitter
Select item 1070224.	NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) GRCh37: ChrX:48370320 GRCh38: ChrX:48511932	PORCN	R124, R53	not provided, Focal dermal hypoplasia	Pathogenic (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1070125.	NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) GRCh37: ChrX:48369724 GRCh38: ChrX:48511336	PORCN	G60R	not provided	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 1070026.	NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) GRCh37: ChrX:48374310-48374311 GRCh38: ChrX:48515922-48515923	PORCN	T347fs, T352fs, T276fs, T358fs, T353fs	Focal dermal hypoplasia	Pathogenic (Jul 1, 2007)	no assertion criteria provided

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Items: 26