ClinVar for MedGen (Select 436851) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1994481	NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)	NIPAL4	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1683528	NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His)	NIPAL4 (D287H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 1031827	NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser)	NIPAL4 (A353S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907384	NM_001099287.2(NIPAL4):c.*1208T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907383	NM_001099287.2(NIPAL4):c.*1130C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907321	NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907320	NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906380	NM_001099287.2(NIPAL4):c.*804T>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 906379	NM_001099287.2(NIPAL4):c.*730C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906378	NM_001099287.2(NIPAL4):c.*623T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 906377	NM_001099287.2(NIPAL4):c.*576G>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906310	NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val)	NIPAL4 (G160V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905870	NM_001099287.2(NIPAL4):c.*445T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905869	NM_001099287.2(NIPAL4):c.*290G>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905868	NM_001099287.2(NIPAL4):c.*228C>G	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 905867	NM_001099287.2(NIPAL4):c.*135T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905866	NM_001099287.2(NIPAL4):c.*97A>G	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905799	NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met)	NIPAL4 (V147M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 905798	NM_001099287.2(NIPAL4):c.-71G>A	LOC129995124, NIPAL4 (R39Q)	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 904051	NM_001099287.2(NIPAL4):c.*1492C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 904050	NM_001099287.2(NIPAL4):c.*1347T>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 904049	NM_001099287.2(NIPAL4):c.*1248C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 903985	NM_001099287.2(NIPAL4):c.1104G>A (p.Pro368=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 903984	NM_001099287.2(NIPAL4):c.1057G>A (p.Ala353Thr)	NIPAL4 (A396T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 903913	NM_001099287.1(NIPAL4):c.-24C>A	LOC129995124, NIPAL4	Single nucleotide variant	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 903912	NM_001099287.1(NIPAL4):c.-98C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant (non-coding transcript variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 903911	NM_001099287.1(NIPAL4):c.-121C>A	NIPAL4, NIPAL4-DT	Single nucleotide variant (non-coding transcript variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 638553	NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs)	NIPAL4 (N423fs +2 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638552	NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg)	NIPAL4 (S338R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638551	NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys)	NIPAL4 (N313K +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638550	NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg)	NIPAL4 (G297R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 638549	NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg)	NIPAL4 (G282R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638548	NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu)	NIPAL4 (P279L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638547	NM_001099287.2(NIPAL4):c.523del (p.His175fs)	NIPAL4 (H218fs +2 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638546	NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp)	NIPAL4 (H237D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638545	NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg)	NIPAL4 (T232R +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638544	NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe)	NIPAL4 (S208F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638543	NM_001099287.2(NIPAL4):c.426-3del	NIPAL4	Deletion (intron variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638542	NM_001099287.2(NIPAL4):c.425+1G>A	NIPAL4	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638541	NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter)	NIPAL4 (Y185* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638540	NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp)	NIPAL4 (E178D +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638539	NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu)	NIPAL4 (G157E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638538	NM_001099287.2(NIPAL4):c.277+5G>A	NIPAL4	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 638537	NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val)	NIPAL4 (G142V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638536	NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp)	NIPAL4 (V136D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638535	NM_001099287.2(NIPAL4):c.97del (p.Leu33fs)	NIPAL4 (L95fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638534	NM_001099287.2(NIPAL4):c.37+5G>C	NIPAL4	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 638533	NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)	NIPAL4, LOC129995124 (M1T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 633805	NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs)	NIPAL4 (I217fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 633804	NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter)	NIPAL4 (Y361* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 372383	NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)	NIPAL4 (G230R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 352551	NM_001099287.2(NIPAL4):c.*1733G>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352550	NM_001099287.2(NIPAL4):c.*1706C>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352549	NM_001099287.2(NIPAL4):c.*1679C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352548	NM_001099287.2(NIPAL4):c.*1647T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352547	NM_001099287.2(NIPAL4):c.*1603A>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352545	NM_001099287.2(NIPAL4):c.*1394A>G	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352543	NM_001099287.2(NIPAL4):c.*1356T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352542	NM_001099287.2(NIPAL4):c.*1221C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352541	NM_001099287.2(NIPAL4):c.*1140G>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352540	NM_001099287.2(NIPAL4):c.*1069A>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352539	NM_001099287.2(NIPAL4):c.*992C>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352538	NM_001099287.2(NIPAL4):c.*910A>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352537	NM_001099287.2(NIPAL4):c.*903G>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352535	NM_001099287.2(NIPAL4):c.*782T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352534	NM_001099287.2(NIPAL4):c.*742C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352532	NM_001099287.2(NIPAL4):c.*566C>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 352527	NM_001099287.2(NIPAL4):c.*227T>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 352526	NM_001099287.2(NIPAL4):c.*79C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 352525	NM_001099287.2(NIPAL4):c.*32C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 352524	NM_001099287.2(NIPAL4):c.*23G>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352522	NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352521	NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile)	NIPAL4 (V369I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352520	NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile)	NIPAL4 (T353I +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352519	NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352518	NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln)	NIPAL4 (H323Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352517	NM_001099287.2(NIPAL4):c.653G>A (p.Arg218His)	NIPAL4 (R280H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GUncertain significance
Select item 352516	NM_001099287.2(NIPAL4):c.587-5C>A	NIPAL4	Single nucleotide variant (intron variant)	NIPAL4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 352515	NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe)	NIPAL4 (V244F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GLikely benign
Select item 352514	NM_001099287.2(NIPAL4):c.408G>A (p.Ala136=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352513	NM_001099287.2(NIPAL4):c.335-9G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352512	NM_001099287.2(NIPAL4):c.311T>C (p.Met104Thr)	NIPAL4 (M166T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352511	NM_001099287.2(NIPAL4):c.306T>C (p.Asp102=)	NIPAL4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352510	NM_001099287.2(NIPAL4):c.265G>A (p.Ala89Thr)	NIPAL4 (A151T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352509	NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met)	NIPAL4 (T149M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 352508	NM_001099287.2(NIPAL4):c.193C>T (p.Leu65=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352507	NM_001099287.2(NIPAL4):c.145A>C (p.Arg49=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352506	NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala)	NIPAL4 (V99A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 352505	NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=)	LOC129995124, NIPAL4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 352504	NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=)	LOC129995124, NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 352503	NM_001099287.1(NIPAL4):c.-41C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant (non-coding transcript variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 257436	NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly)	NIPAL4 (R213G +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 257435	NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu)	NIPAL4 (S453L +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 257434	NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 257433	NM_001099287.1(NIPAL4):c.-10A>G	LOC129995124, NIPAL4	Single nucleotide variant	Autosomal recessive congenital ichthyosis 6 +2 more	GBenign
Select item 1732	NM_001099287.2(NIPAL4):c.586+1G>A	NIPAL4	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 1731	NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	NIPAL4 (A176D +3 more)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic
Select item 1730	A114N	NIPAL4	Single nucleotide variant	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 1729	NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)	NIPAL4 (R145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 99