ClinVar for MedGen (Select 436851) - ClinVar

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Items: 99

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 19944811.	NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer) GRCh37: Chr5:156895816 GRCh38: Chr5:157468808	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Pathogenic/Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16835282.	NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His) GRCh37: Chr5:156899612 GRCh38: Chr5:157472604	NIPAL4	D287H, D330H, D349H, D268H	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 10318273.	NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser) GRCh37: Chr5:156899810 GRCh38: Chr5:157472802	NIPAL4	A353S, A396S, A334S, A415S	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Mar 22, 2018)	criteria provided, single submitter
Select item 9073844.	NM_001099287.2(NIPAL4):c.*1208T>C GRCh37: Chr5:156901176 GRCh38: Chr5:157474168	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9073835.	NM_001099287.2(NIPAL4):c.*1130C>T GRCh37: Chr5:156901098 GRCh38: Chr5:157474090	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9073216.	NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=) GRCh37: Chr5:156899410 GRCh38: Chr5:157472402	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9073207.	NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=) GRCh37: Chr5:156898740 GRCh38: Chr5:157471732	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9063808.	NM_001099287.2(NIPAL4):c.*804T>A GRCh37: Chr5:156900772 GRCh38: Chr5:157473764	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 9063799.	NM_001099287.2(NIPAL4):c.*730C>T GRCh37: Chr5:156900698 GRCh38: Chr5:157473690	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90637810.	NM_001099287.2(NIPAL4):c.*623T>C GRCh37: Chr5:156900591 GRCh38: Chr5:157473583	NIPAL4		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90637711.	NM_001099287.2(NIPAL4):c.*576G>C GRCh37: Chr5:156900544 GRCh38: Chr5:157473536	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90631012.	NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val) GRCh37: Chr5:156894072 GRCh38: Chr5:157467064	NIPAL4	G160V, G98V	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90587013.	NM_001099287.2(NIPAL4):c.*445T>C GRCh37: Chr5:156900413 GRCh38: Chr5:157473405	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90586914.	NM_001099287.2(NIPAL4):c.*290G>A GRCh37: Chr5:156900258 GRCh38: Chr5:157473250	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 90586815.	NM_001099287.2(NIPAL4):c.*228C>G GRCh37: Chr5:156900196 GRCh38: Chr5:157473188	NIPAL4		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90586716.	NM_001099287.2(NIPAL4):c.*135T>C GRCh37: Chr5:156900103 GRCh38: Chr5:157473095	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90586617.	NM_001099287.2(NIPAL4):c.*97A>G GRCh37: Chr5:156900065 GRCh38: Chr5:157473057	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90579918.	NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met) GRCh37: Chr5:156890317 GRCh38: Chr5:157463309	NIPAL4	V147M, V85M	Inborn genetic diseases, Autosomal recessive congenital ichthyosis 6	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90579819.	NM_001099287.2(NIPAL4):c.-71G>A GRCh37: Chr5:156887258 GRCh38: Chr5:157460250	NIPAL4	R39Q	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Nov 6, 2017)	criteria provided, single submitter
Select item 90405120.	NM_001099287.2(NIPAL4):c.*1492C>T GRCh37: Chr5:156901460 GRCh38: Chr5:157474452	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90405021.	NM_001099287.2(NIPAL4):c.*1347T>A GRCh37: Chr5:156901315 GRCh38: Chr5:157474307	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90404922.	NM_001099287.2(NIPAL4):c.*1248C>T GRCh37: Chr5:156901216 GRCh38: Chr5:157474208	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90398523.	NM_001099287.2(NIPAL4):c.1104G>A (p.Pro368=) GRCh37: Chr5:156899857 GRCh38: Chr5:157472849	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90398424.	NM_001099287.2(NIPAL4):c.1057G>A (p.Ala353Thr) GRCh37: Chr5:156899810 GRCh38: Chr5:157472802	NIPAL4	A396T, A415T, A353T, A334T	Inborn genetic diseases, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Jun 22, 2021)	criteria provided, conflicting interpretations
Select item 90391325.	NM_001099287.1(NIPAL4):c.-24C>A GRCh37: Chr5:156887119 GRCh38: Chr5:157460111	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90391226.	NM_001099287.1(NIPAL4):c.-98C>T GRCh37: Chr5:156887045 GRCh38: Chr5:157460037	NIPAL4, NIPAL4-DT		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90391127.	NM_001099287.1(NIPAL4):c.-121C>A GRCh37: Chr5:156887022 GRCh38: Chr5:157460014	NIPAL4, NIPAL4-DT		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 63855328.	NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) GRCh37: Chr5:156899831 GRCh38: Chr5:157472823	NIPAL4	N423fs, N404fs, N361fs	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63855229.	NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) GRCh37: Chr5:156899581 GRCh38: Chr5:157472573	NIPAL4	S338R, S319R, S276R, S257R	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63855130.	NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) GRCh37: Chr5:156899506 GRCh38: Chr5:157472498	NIPAL4	N313K, N294K, N251K, N232K	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63855031.	NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) GRCh37: Chr5:156899456 GRCh38: Chr5:157472448	NIPAL4	G297R, G278R, G235R, G216R	Lamellar ichthyosis, not provided	Pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63854932.	NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) GRCh37: Chr5:156899411 GRCh38: Chr5:157472403	NIPAL4	G282R, G263R, G220R, G201R	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854833.	NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) GRCh37: Chr5:156899403 GRCh38: Chr5:157472395	NIPAL4	P279L, P260L, P217L, P198L	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854734.	NM_001099287.2(NIPAL4):c.523del (p.His175fs) GRCh37: Chr5:156898762 GRCh38: Chr5:157471754	NIPAL4	H218fs, H237fs, H175fs	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854635.	NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) GRCh37: Chr5:156898762 GRCh38: Chr5:157471754	NIPAL4	H237D, H218D, H175D, H156D	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854536.	NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) GRCh37: Chr5:156898748 GRCh38: Chr5:157471740	NIPAL4	T232R, T213R, T170R, T151R	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854437.	NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) GRCh37: Chr5:156898676 GRCh38: Chr5:157471668	NIPAL4	S208F, S189F, S146F, S127F	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854338.	NM_001099287.2(NIPAL4):c.426-3del GRCh37: Chr5:156898662 GRCh38: Chr5:157471654	NIPAL4		Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854239.	NM_001099287.2(NIPAL4):c.425+1G>A GRCh37: Chr5:156895821 GRCh38: Chr5:157468813	NIPAL4		Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854140.	NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) GRCh37: Chr5:156895764 GRCh38: Chr5:157468756	NIPAL4	Y185, Y166, Y123, Y104	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63854041.	NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) GRCh37: Chr5:156895743 GRCh38: Chr5:157468735	NIPAL4	E178D, E159D, E116D, E97D	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853942.	NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) GRCh37: Chr5:156894063 GRCh38: Chr5:157467055	NIPAL4	G157E, G95E	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853843.	NM_001099287.2(NIPAL4):c.277+5G>A GRCh37: Chr5:156890346 GRCh38: Chr5:157463338	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63853744.	NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) GRCh37: Chr5:156890303 GRCh38: Chr5:157463295	NIPAL4	G142V, G80V	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853645.	NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) GRCh37: Chr5:156890285 GRCh38: Chr5:157463277	NIPAL4	V136D, V74D	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853546.	NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) GRCh37: Chr5:156890160 GRCh38: Chr5:157463152	NIPAL4	L95fs, L33fs	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853447.	NM_001099287.2(NIPAL4):c.37+5G>C GRCh37: Chr5:156887370 GRCh38: Chr5:157460362	NIPAL4		Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63853348.	NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) GRCh37: Chr5:156887144 GRCh38: Chr5:157460136	NIPAL4	M1T	Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 63380549.	NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs) GRCh37: Chr5:156898757-156898763 GRCh38: Chr5:157471749-157471755	NIPAL4	I217fs, I174fs	Autosomal recessive congenital ichthyosis 6	Pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 63380450.	NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter) GRCh37: Chr5:156899650 GRCh38: Chr5:157472642	NIPAL4	Y361, Y342, Y299, Y280	Autosomal recessive congenital ichthyosis 6	Pathogenic (Jun 8, 2018)	criteria provided, single submitter
Select item 37238351.	NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) GRCh37: Chr5:156898741 GRCh38: Chr5:157471733	NIPAL4	G230R, G211R, G168R, G149R	not provided, Lamellar ichthyosis	Pathogenic (Aug 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35255152.	NM_001099287.2(NIPAL4):c.*1733G>T GRCh37: Chr5:156901701 GRCh38: Chr5:157474693	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35255053.	NM_001099287.2(NIPAL4):c.*1706C>A GRCh37: Chr5:156901674 GRCh38: Chr5:157474666	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35254954.	NM_001099287.2(NIPAL4):c.*1679C>T GRCh37: Chr5:156901647 GRCh38: Chr5:157474639	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35254855.	NM_001099287.2(NIPAL4):c.*1647T>C GRCh37: Chr5:156901615 GRCh38: Chr5:157474607	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35254756.	NM_001099287.2(NIPAL4):c.*1603A>C GRCh37: Chr5:156901571 GRCh38: Chr5:157474563	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35254557.	NM_001099287.2(NIPAL4):c.*1394A>G GRCh37: Chr5:156901362 GRCh38: Chr5:157474354	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35254358.	NM_001099287.2(NIPAL4):c.*1356T>C GRCh37: Chr5:156901324 GRCh38: Chr5:157474316	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35254259.	NM_001099287.2(NIPAL4):c.*1221C>T GRCh37: Chr5:156901189 GRCh38: Chr5:157474181	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35254160.	NM_001099287.2(NIPAL4):c.*1140G>T GRCh37: Chr5:156901108 GRCh38: Chr5:157474100	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35254061.	NM_001099287.2(NIPAL4):c.*1069A>C GRCh37: Chr5:156901037 GRCh38: Chr5:157474029	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35253962.	NM_001099287.2(NIPAL4):c.*992C>A GRCh37: Chr5:156900960 GRCh38: Chr5:157473952	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35253863.	NM_001099287.2(NIPAL4):c.*910A>T GRCh37: Chr5:156900878 GRCh38: Chr5:157473870	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35253764.	NM_001099287.2(NIPAL4):c.*903G>A GRCh37: Chr5:156900871 GRCh38: Chr5:157473863	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35253565.	NM_001099287.2(NIPAL4):c.*782T>C GRCh37: Chr5:156900750 GRCh38: Chr5:157473742	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35253466.	NM_001099287.2(NIPAL4):c.*742C>T GRCh37: Chr5:156900710 GRCh38: Chr5:157473702	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35253267.	NM_001099287.2(NIPAL4):c.*566C>A GRCh37: Chr5:156900534 GRCh38: Chr5:157473526	NIPAL4		Autosomal recessive congenital ichthyosis 6	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35252768.	NM_001099287.2(NIPAL4):c.*227T>A GRCh37: Chr5:156900195 GRCh38: Chr5:157473187	NIPAL4		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35252669.	NM_001099287.2(NIPAL4):c.*79C>T GRCh37: Chr5:156900047 GRCh38: Chr5:157473039	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35252570.	NM_001099287.2(NIPAL4):c.*32C>T GRCh37: Chr5:156900000 GRCh38: Chr5:157472992	NIPAL4		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35252471.	NM_001099287.2(NIPAL4):c.*23G>A GRCh37: Chr5:156899991 GRCh38: Chr5:157472983	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35252272.	NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=) GRCh37: Chr5:156899743 GRCh38: Chr5:157472735	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35252173.	NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile) GRCh37: Chr5:156899672 GRCh38: Chr5:157472664	NIPAL4	V369I, V350I, V307I, V288I	not provided, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 35252074.	NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile) GRCh37: Chr5:156899625 GRCh38: Chr5:157472617	NIPAL4	T353I, T334I, T291I, T272I	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35251975.	NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=) GRCh37: Chr5:156899581 GRCh38: Chr5:157472573	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35251876.	NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln) GRCh37: Chr5:156899536 GRCh38: Chr5:157472528	NIPAL4	H323Q, H304Q, H261Q, H242Q	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35251777.	NM_001099287.2(NIPAL4):c.653G>A (p.Arg218His) GRCh37: Chr5:156899406 GRCh38: Chr5:157472398	NIPAL4	R280H, R261H, R218H, R199H	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35251678.	NM_001099287.2(NIPAL4):c.587-5C>A GRCh37: Chr5:156899335 GRCh38: Chr5:157472327	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35251579.	NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe) GRCh37: Chr5:156898783 GRCh38: Chr5:157471775	NIPAL4	V244F, V225F, V182F, V163F	Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35251480.	NM_001099287.2(NIPAL4):c.408G>A (p.Ala136=) GRCh37: Chr5:156895803 GRCh38: Chr5:157468795	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35251381.	NM_001099287.2(NIPAL4):c.335-9G>A GRCh37: Chr5:156895721 GRCh38: Chr5:157468713	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 35251282.	NM_001099287.2(NIPAL4):c.311T>C (p.Met104Thr) GRCh37: Chr5:156894090 GRCh38: Chr5:157467082	NIPAL4	M166T, M104T	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35251183.	NM_001099287.2(NIPAL4):c.306T>C (p.Asp102=) GRCh37: Chr5:156894085 GRCh38: Chr5:157467077	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 35251084.	NM_001099287.2(NIPAL4):c.265G>A (p.Ala89Thr) GRCh37: Chr5:156890329 GRCh38: Chr5:157463321	NIPAL4	A151T, A89T	Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35250985.	NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met) GRCh37: Chr5:156890324 GRCh38: Chr5:157463316	NIPAL4	T149M, T87M	not provided, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 35250886.	NM_001099287.2(NIPAL4):c.193C>T (p.Leu65=) GRCh37: Chr5:156890257 GRCh38: Chr5:157463249	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 35250787.	NM_001099287.2(NIPAL4):c.145A>C (p.Arg49=) GRCh37: Chr5:156890209 GRCh38: Chr5:157463201	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35250688.	NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala) GRCh37: Chr5:156890174 GRCh38: Chr5:157463166	NIPAL4	V99A, V37A	not provided, Autosomal recessive congenital ichthyosis 6	Benign/Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35250589.	NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=) GRCh37: Chr5:156887220 GRCh38: Chr5:157460212	NIPAL4		not provided, Autosomal recessive congenital ichthyosis 6	Benign/Likely benign (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35250490.	NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=) GRCh37: Chr5:156887205 GRCh38: Chr5:157460197	NIPAL4		Autosomal recessive congenital ichthyosis 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35250391.	NM_001099287.1(NIPAL4):c.-41C>T GRCh37: Chr5:156887102 GRCh38: Chr5:157460094	NIPAL4, NIPAL4-DT		Autosomal recessive congenital ichthyosis 6	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 25743692.	NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) GRCh37: Chr5:156898690 GRCh38: Chr5:157471682	NIPAL4	R213G, R194G, R151G, R132G	not specified, not provided, Autosomal recessive congenital ichthyosis 6	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25743593.	NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) GRCh37: Chr5:156899925 GRCh38: Chr5:157472917	NIPAL4	S453L, S434L, S391L, S372L	not specified, not provided, Autosomal recessive congenital ichthyosis 6	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25743494.	NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) GRCh37: Chr5:156899869 GRCh38: Chr5:157472861	NIPAL4		not provided, not specified, Autosomal recessive congenital ichthyosis 6	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25743395.	NM_001099287.1(NIPAL4):c.-10A>G GRCh37: Chr5:156887133 GRCh38: Chr5:157460125	NIPAL4		Autosomal recessive congenital ichthyosis 6, not provided, not specified	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 173296.	NM_001099287.2(NIPAL4):c.586+1G>A GRCh37: Chr5:156898826 GRCh38: Chr5:157471818	NIPAL4		Autosomal recessive congenital ichthyosis 6	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 173197.	NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) GRCh37: Chr5:156895736 GRCh38: Chr5:157468728	NIPAL4	A176D, A157D, A114D, A95D	Lamellar ichthyosis, not provided, Autosomal recessive congenital ichthyosis 6	Pathogenic/Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 173098.	A114N	NIPAL4		Autosomal recessive congenital ichthyosis 6	Pathogenic (Oct 15, 2004)	no assertion criteria provided
Select item 172999.	NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) GRCh37: Chr5:156890311 GRCh38: Chr5:157463303	NIPAL4	R145*	not provided	Pathogenic (Jun 16, 2020)	criteria provided, single submitter

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Items: 99