Related gene-specific medical variations for Gene (Select 348938) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364733	NM_001099287.2(NIPAL4):c.-101C>A	LOC129995124, NIPAL4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2527568	NM_001099287.2(NIPAL4):c.-93A>C	LOC129995124, NIPAL4	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1669807	NM_001099287.2(NIPAL4):c.-59C>T	LOC129995124, NIPAL4 (P43L)	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1331474	NM_001099287.2(NIPAL4):c.-103_-99delinsT	LOC129995124, NIPAL4 (S29fs)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1307671	NM_001099287.2(NIPAL4):c.-80A>G	LOC129995124, NIPAL4 (D36G)	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1175309	NM_001099287.2(NIPAL4):c.649C>G (p.Pro217Ala)	NIPAL4 (P217A +3 more)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GLikely pathogenic
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 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 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 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 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 1730	A114N	NIPAL4	Single nucleotide variant	Autosomal recessive congenital ichthyosis 6	GPathogenic

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Links from Gene

Items: 25