ClinVar for MedGen (Select 767269) - ClinVar

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Items: 89

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26279681.	NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr) GRCh37: Chr6:36260886 GRCh38: Chr6:36293109	PNPLA1	P163T, P68T	Autosomal recessive congenital ichthyosis 10	Uncertain significance	criteria provided, single submitter
Select item 25796502.	NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu) GRCh37: Chr6:36260887 GRCh38: Chr6:36293110	PNPLA1	P163L, P68L	Autosomal recessive congenital ichthyosis 10	Uncertain significance	no assertion criteria provided
Select item 24458793.	NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter) GRCh37: Chr6:36263162 GRCh38: Chr6:36295385	PNPLA1	R151, R160, R246*	Lamellar ichthyosis	Likely pathogenic (Feb 16, 2023)	criteria provided, single submitter
Select item 17056954.	NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro) GRCh37: Chr6:36275383 GRCh38: Chr6:36307606	PNPLA1	S402P, S411P, S497P	Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17056735.	NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr) GRCh37: Chr6:36238414 GRCh38: Chr6:36270637	PNPLA1	A60T	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16912906.	NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro) GRCh37: Chr6:36238336 GRCh38: Chr6:36270559	PNPLA1	A34P	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 13328767.	NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys) GRCh37: Chr6:36260895 GRCh38: Chr6:36293118	PNPLA1	R166C, R71C	PNPLA1-related condition, not specified	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12876888.	NM_001374623.1(PNPLA1):c.776-35G>A GRCh37: Chr6:36269603 GRCh38: Chr6:36301826	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9080399.	NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) GRCh37: Chr6:36238328 GRCh38: Chr6:36270551	PNPLA1	A31V	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90803810.	NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) GRCh37: Chr6:36238323 GRCh38: Chr6:36270546	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90710411.	NM_001374623.1(PNPLA1):c.1595+842C>T GRCh37: Chr6:36276331 GRCh38: Chr6:36308554	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 90710312.	NM_001374623.1(PNPLA1):c.1595+777A>T GRCh37: Chr6:36276266 GRCh38: Chr6:36308489	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90610113.	NM_001374623.1(PNPLA1):c.1595+550A>G GRCh37: Chr6:36276039 GRCh38: Chr6:36308262	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90610014.	NM_001374623.1(PNPLA1):c.1595+384G>C GRCh37: Chr6:36275873 GRCh38: Chr6:36308096	PNPLA1		Autosomal recessive congenital ichthyosis 10	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90602915.	NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) GRCh37: Chr6:36269707 GRCh38: Chr6:36301930	PNPLA1	E196G, E187G, E282G	Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases, not provided	Uncertain significance (Jul 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90602816.	NM_001374623.1(PNPLA1):c.715-10C>T GRCh37: Chr6:36263131 GRCh38: Chr6:36295354	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90559017.	NM_001374623.1(PNPLA1):c.1595+221G>C GRCh37: Chr6:36275710 GRCh38: Chr6:36307933	PNPLA1		Autosomal recessive congenital ichthyosis 10	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90558918.	NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) GRCh37: Chr6:36275487 GRCh38: Chr6:36307710	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90558819.	NM_001374623.1(PNPLA1):c.1469+10C>G GRCh37: Chr6:36274163 GRCh38: Chr6:36306386	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90551920.	NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) GRCh37: Chr6:36262017 GRCh38: Chr6:36294240	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90551821.	NM_001374623.1(PNPLA1):c.439-6G>A GRCh37: Chr6:36260832 GRCh38: Chr6:36293055	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90480122.	NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) GRCh37: Chr6:36274149 GRCh38: Chr6:36306372	PNPLA1	V394I, V403I, V489I	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90480023.	NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) GRCh37: Chr6:36270201 GRCh38: Chr6:36302424	PNPLA1	P447S, P352S, P361S	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90479924.	NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) GRCh37: Chr6:36270190 GRCh38: Chr6:36302413	PNPLA1	L348R, L443R, L357R	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90473325.	NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) GRCh37: Chr6:36259274 GRCh38: Chr6:36291497	PNPLA1	T33K, T128K	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90473226.	NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) GRCh37: Chr6:36259206 GRCh38: Chr6:36291429	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90473127.	NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) GRCh37: Chr6:36259167 GRCh38: Chr6:36291390	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90473028.	NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) GRCh37: Chr6:36259122 GRCh38: Chr6:36291345	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90472929.	NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) GRCh37: Chr6:36259119 GRCh38: Chr6:36291342	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 79114430.	NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) GRCh37: Chr6:36261999 GRCh38: Chr6:36294222	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Benign/Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78061831.	NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) GRCh37: Chr6:36270161 GRCh38: Chr6:36302384	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Apr 10, 2018)	criteria provided, conflicting interpretations
Select item 71645532.	NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) GRCh37: Chr6:36238395 GRCh38: Chr6:36270618	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 71255733.	NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) GRCh37: Chr6:36270205 GRCh38: Chr6:36302428	PNPLA1	A362V, A353V, A448V	not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Apr 7, 2022)	criteria provided, conflicting interpretations
Select item 68464734.	NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) GRCh37: Chr6:36238394 GRCh38: Chr6:36270617	PNPLA1	S53W	Autosomal recessive congenital ichthyosis 10	Likely pathogenic	criteria provided, single submitter
Select item 68464535.	NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) GRCh37: Chr6:36259312 GRCh38: Chr6:36291535	PNPLA1	K46E, K141E	Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma	Pathogenic (Jun 7, 2017)	no assertion criteria provided
Select item 63381836.	NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del) GRCh37: Chr6:36263153-36263155 GRCh38: Chr6:36295376-36295378	PNPLA1	Y150del, Y159del, Y245del	Autosomal recessive congenital ichthyosis 10	Pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63380037.	NM_001374623.1(PNPLA1):c.205+5G>A GRCh37: Chr6:36238446 GRCh38: Chr6:36270669	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jun 8, 2018)	criteria provided, single submitter
Select item 63379938.	NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro) GRCh37: Chr6:36263163 GRCh38: Chr6:36295386	PNPLA1	R151P, R246P, R160P	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63379839.	NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu) GRCh37: Chr6:36262076 GRCh38: Chr6:36294299	PNPLA1	P110L, P205L, P119L	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63379740.	NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu) GRCh37: Chr6:36238385 GRCh38: Chr6:36270608	PNPLA1	A50E	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63379641.	NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp) GRCh37: Chr6:36238292 GRCh38: Chr6:36270515	PNPLA1	S19W	Autosomal recessive congenital ichthyosis 10	Likely pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 62542742.	NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) GRCh37: Chr6:36238336 GRCh38: Chr6:36270559	PNPLA1	A34T	Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma	Pathogenic (Jun 10, 2019)	no assertion criteria provided
Select item 61784643.	NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) GRCh37: Chr6:36259278 GRCh38: Chr6:36291501	PNPLA1	D34E, D129E	Ichthyosis, Autosomal recessive congenital ichthyosis 10	Pathogenic (Apr 12, 2019)	no assertion criteria provided
Select item 45107144.	NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) GRCh37: Chr6:36262108 GRCh38: Chr6:36294331	PNPLA1	C121R, C216R, C130R	not provided	Likely pathogenic (Dec 7, 2018)	criteria provided, single submitter
Select item 44468245.	NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) GRCh37: Chr6:36259274 GRCh38: Chr6:36291497	PNPLA1	T33M, T128M	Autosomal recessive congenital ichthyosis 10, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 43745646.	NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) GRCh37: Chr6:36259265 GRCh38: Chr6:36291488	PNPLA1	T125N, T30N	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jun 18, 2017)	criteria provided, single submitter
Select item 40333147.	NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) GRCh37: Chr6:36274148 GRCh38: Chr6:36306371	PNPLA1	Y393, Y488, Y402*	not specified, Autosomal recessive congenital ichthyosis 10, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37525948.	NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) GRCh37: Chr6:36259157 GRCh38: Chr6:36291380	PNPLA1	P89L	Autosomal recessive congenital ichthyosis 10	Likely pathogenic	no assertion criteria provided
Select item 37525849.	NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) GRCh37: Chr6:36259226 GRCh38: Chr6:36291449	PNPLA1	S112Y, S17Y	Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma	Pathogenic/Likely pathogenic (Jun 7, 2017)	no assertion criteria provided
Select item 37525750.	NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met) GRCh37: Chr6:36259241 GRCh38: Chr6:36291464	PNPLA1	T117M, T22M	Autosomal recessive congenital ichthyosis 10	Likely pathogenic	no assertion criteria provided
Select item 37525651.	NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) GRCh37: Chr6:36259309 GRCh38: Chr6:36291532	PNPLA1	S140P, S45P	not provided	Likely pathogenic (Aug 23, 2023)	criteria provided, single submitter
Select item 37525552.	NM_001374623.1(PNPLA1):c.820del (p.Arg274fs) GRCh37: Chr6:36269678 GRCh38: Chr6:36301901	PNPLA1	R274fs, R179fs, R188fs	Autosomal recessive congenital ichthyosis 10	Likely pathogenic	no assertion criteria provided
Select item 35658653.	NM_001374623.1(PNPLA1):c.1595+653G>A GRCh37: Chr6:36276142 GRCh38: Chr6:36308365	PNPLA1		Autosomal recessive congenital ichthyosis 10	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35658554.	NM_001374623.1(PNPLA1):c.1595+640G>A GRCh37: Chr6:36276129 GRCh38: Chr6:36308352	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35658455.	NM_001374623.1(PNPLA1):c.1595+622G>A GRCh37: Chr6:36276111 GRCh38: Chr6:36308334	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35658356.	NM_001374623.1(PNPLA1):c.1595+544A>G GRCh37: Chr6:36276033 GRCh38: Chr6:36308256	PNPLA1		Autosomal recessive congenital ichthyosis 10	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35658257.	NM_001374623.1(PNPLA1):c.1595+532G>C GRCh37: Chr6:36276021 GRCh38: Chr6:36308244	PNPLA1		Autosomal recessive congenital ichthyosis 10	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35658158.	NM_001374623.1(PNPLA1):c.1595+511A>C GRCh37: Chr6:36276000 GRCh38: Chr6:36308223	PNPLA1		Autosomal recessive congenital ichthyosis 10	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35658059.	NM_001374623.1(PNPLA1):c.1595+430T>C GRCh37: Chr6:36275919 GRCh38: Chr6:36308142	PNPLA1		Autosomal recessive congenital ichthyosis 10	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35657960.	NM_001374623.1(PNPLA1):c.1595+414C>T GRCh37: Chr6:36275903 GRCh38: Chr6:36308126	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35657861.	NM_001374623.1(PNPLA1):c.1595+340A>G GRCh37: Chr6:36275829 GRCh38: Chr6:36308052	PNPLA1		Autosomal recessive congenital ichthyosis 10	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35657662.	NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) GRCh37: Chr6:36275472 GRCh38: Chr6:36307695	PNPLA1	K431N, K526N, K440N	not provided, Autosomal recessive congenital ichthyosis 10	Benign (Dec 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35657563.	NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) GRCh37: Chr6:36274104 GRCh38: Chr6:36306327	PNPLA1	A379T, A474T, A388T	not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 35657464.	NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) GRCh37: Chr6:36270028 GRCh38: Chr6:36302251	PNPLA1	L294P, L389P, L303P	not provided, Autosomal recessive congenital ichthyosis 10	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35657365.	NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) GRCh37: Chr6:36269924 GRCh38: Chr6:36302147	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35657266.	NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) GRCh37: Chr6:36269847 GRCh38: Chr6:36302070	PNPLA1	S329P, S234P, S243P	not provided, Autosomal recessive congenital ichthyosis 10	Benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35657067.	NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) GRCh37: Chr6:36269817 GRCh38: Chr6:36302040	PNPLA1	D224N, D319N, D233N	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35656968.	NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) GRCh37: Chr6:36269815 GRCh38: Chr6:36302038	PNPLA1	G223E, G318E, G232E	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35656869.	NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) GRCh37: Chr6:36269796 GRCh38: Chr6:36302019	PNPLA1	K312E, K217E, K226E	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35656770.	NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) GRCh37: Chr6:36269751 GRCh38: Chr6:36301974	PNPLA1	L202F, L297F, L211F	Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35656671.	NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) GRCh37: Chr6:36269725 GRCh38: Chr6:36301948	PNPLA1	E193G, E288G, E202G	not specified, Autosomal recessive congenital ichthyosis 10, not provided	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35656572.	NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) GRCh37: Chr6:36269675 GRCh38: Chr6:36301898	PNPLA1		Autosomal recessive congenital ichthyosis 10, not provided	Conflicting interpretations of pathogenicity (Oct 2, 2018)	criteria provided, conflicting interpretations
Select item 35656473.	NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) GRCh37: Chr6:36263171 GRCh38: Chr6:36295394	PNPLA1	E249K, E154K, E163K	not provided, Autosomal recessive congenital ichthyosis 10	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35656374.	NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) GRCh37: Chr6:36263170 GRCh38: Chr6:36295393	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 35656275.	NM_001374623.1(PNPLA1):c.715-9C>T GRCh37: Chr6:36263132 GRCh38: Chr6:36295355	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35656176.	NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) GRCh37: Chr6:36262153 GRCh38: Chr6:36294376	PNPLA1	A231T, A136T, A145T	not provided, Autosomal recessive congenital ichthyosis 10	Benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35656077.	NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) GRCh37: Chr6:36262137 GRCh38: Chr6:36294360	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35655978.	NM_001374623.1(PNPLA1):c.627C>T (p.His209=) GRCh37: Chr6:36262089 GRCh38: Chr6:36294312	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Benign/Likely benign (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35655879.	NM_001374623.1(PNPLA1):c.439-7C>T GRCh37: Chr6:36260831 GRCh38: Chr6:36293054	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35655780.	NM_001374623.1(PNPLA1):c.438+10C>T GRCh37: Chr6:36259339 GRCh38: Chr6:36291562	PNPLA1		Autosomal recessive congenital ichthyosis 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35655681.	NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) GRCh37: Chr6:36259263 GRCh38: Chr6:36291486	PNPLA1		not provided, Autosomal recessive congenital ichthyosis 10	Conflicting interpretations of pathogenicity (Apr 7, 2018)	criteria provided, conflicting interpretations
Select item 25757382.	NM_001374623.1(PNPLA1):c.504+11C>T GRCh37: Chr6:36260914 GRCh38: Chr6:36293137	PNPLA1		not specified, Autosomal recessive congenital ichthyosis 10, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25757283.	NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) GRCh37: Chr6:36260858 GRCh38: Chr6:36293081	PNPLA1		not provided, not specified, Autosomal recessive congenital ichthyosis 10	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25757184.	NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) GRCh37: Chr6:36275458 GRCh38: Chr6:36307681	PNPLA1	S427P, S522P, S436P	not provided, Autosomal recessive congenital ichthyosis 10, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25757085.	NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) GRCh37: Chr6:36274153 GRCh38: Chr6:36306376	PNPLA1	T395M, T490M, T404M	not specified, not provided, Autosomal recessive congenital ichthyosis 10	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25756986.	NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) GRCh37: Chr6:36270130 GRCh38: Chr6:36302353	PNPLA1	P328H, P423H, P337H	not provided, Autosomal recessive congenital ichthyosis 10, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21923587.	NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) GRCh37: Chr20:62070961 GRCh38: Chr20:63439608	KCNQ2	A306V	Early infantile epileptic encephalopathy with suppression bursts, Seizures, benign familial neonatal, 1, Developmental and epileptic encephalopathy, 7, not provided, KCNQ2-Related Disorders, Autosomal recessive congenital ichthyosis 10, Developmental and epileptic encephalopathy, 7	Pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3956288.	NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) GRCh37: Chr6:36238412 GRCh38: Chr6:36270635	PNPLA1	A59V	Autosomal recessive congenital ichthyosis 10	Pathogenic (Jan 15, 2012)	no assertion criteria provided
Select item 3956189.	NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) GRCh37: Chr6:36259282 GRCh38: Chr6:36291505	PNPLA1	E131, E36	Autosomal recessive congenital ichthyosis 10	Pathogenic (Jan 15, 2012)	no assertion criteria provided

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Items: 89