348938[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1276066	NC_000005.10:g.157459690C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1222176	NC_000005.10:g.157459811G>C	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1228213	NC_000005.10:g.157459842A>G	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1267802	NC_000005.10:g.157459885C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
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 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 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 903913	NM_001099287.1(NIPAL4):c.-24C>A	LOC129995124, NIPAL4	Single nucleotide variant	Autosomal recessive congenital ichthyosis 6	GUncertain significance
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 638533	NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr)	LOC129995124, NIPAL4 (M1T)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 3299797	NM_001099287.1(NIPAL4):c.14C>A (p.Ser5Tyr)	LOC129995124, NIPAL4 (S5Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515493	NM_001099287.1(NIPAL4):c.58C>T (p.Pro20Ser)	LOC129995124, NIPAL4 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200166	NM_001099287.1(NIPAL4):c.59C>A (p.Pro20His)	LOC129995124, NIPAL4 (P20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3299801	NM_001099287.1(NIPAL4):c.71A>T (p.Asp24Val)	LOC129995124, NIPAL4 (D24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2763581	NC_000005.10:g.157460209C>T	LOC129995124, NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 352505	NC_000005.10:g.157460212C>A	LOC129995124, NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GBenign/Likely benign
Select item 1331474	NM_001099287.2(NIPAL4):c.-103_-99delinsT	LOC129995124, NIPAL4 (S29fs)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
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 1307671	NM_001099287.2(NIPAL4):c.-80A>G	LOC129995124, NIPAL4 (D36G)	Single nucleotide variant (5 prime UTR variant)	not provided	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 1669807	NM_001099287.2(NIPAL4):c.-59C>T	LOC129995124, NIPAL4 (P43L)	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3200159	NM_001099287.2(NIPAL4):c.-21G>A	NIPAL4	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1722366	NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)	NIPAL4 (E2* +1 more)	Single nucleotide variant (nonsense)	Lamellar ichthyosis	GLikely pathogenic
Select item 2624350	NM_001099287.2(NIPAL4):c.11G>C (p.Arg4Pro)	NIPAL4 (R4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2506247	NM_001099287.2(NIPAL4):c.11G>A (p.Arg4Gln)	NIPAL4 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 731753	NM_001099287.2(NIPAL4):c.37+9G>T	NIPAL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276105	NM_001099287.2(NIPAL4):c.37+24C>G	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286577	NM_001099287.2(NIPAL4):c.37+108G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776087	NM_001099287.2(NIPAL4):c.92A>G (p.Asn31Ser)	NIPAL4 (N93S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2904122	NM_001099287.2(NIPAL4):c.96C>A (p.Asp32Glu)	NIPAL4 (D32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2356773	NM_001099287.2(NIPAL4):c.97C>T (p.Leu33Phe)	NIPAL4 (L95F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200160	NM_001099287.2(NIPAL4):c.109G>A (p.Val37Met)	NIPAL4 (V37M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352506	NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala)	NIPAL4 (V99A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GBenign/Likely benign
Select item 2377450	NM_001099287.2(NIPAL4):c.117C>A (p.Ser39Arg)	NIPAL4 (S101R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2693241	NM_001099287.2(NIPAL4):c.139C>T (p.Gln47Ter)	NIPAL4 (Q47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3200162	NM_001099287.2(NIPAL4):c.154C>G (p.Gln52Glu)	NIPAL4 (Q52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3200163	NM_001099287.2(NIPAL4):c.201C>A (p.Ser67Arg)	NIPAL4 (S67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233539	NM_001099287.2(NIPAL4):c.207C>A (p.Leu69=)	NIPAL4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1723811	NM_001099287.2(NIPAL4):c.224T>C (p.Ile75Thr)	NIPAL4 (I137T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430353	NM_001099287.2(NIPAL4):c.227T>G (p.Leu76Arg)	NIPAL4 (L138R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1729	NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter)	NIPAL4 (R145*)	Single nucleotide variant (nonsense)	Lamellar ichthyosis +1 more	GPathogenic
Select item 3299794	NM_001099287.2(NIPAL4):c.248G>A (p.Arg83Gln)	NIPAL4 (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3200164	NM_001099287.2(NIPAL4):c.257C>A (p.Ala86Asp)	NIPAL4 (A86D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +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 3251477	NM_001099287.2(NIPAL4):c.277+4G>C	NIPAL4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 638538	NM_001099287.2(NIPAL4):c.277+5G>A	NIPAL4	Single nucleotide variant (intron variant)	Lamellar ichthyosis +1 more	GConflicting classifications of pathogenicity
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 713683	NM_001099287.2(NIPAL4):c.291C>T (p.Phe97=)	NIPAL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 1445008	NM_001099287.2(NIPAL4):c.318G>A (p.Trp106Ter)	NIPAL4 (W106*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1244001	NM_001099287.2(NIPAL4):c.334+230C>G	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 352513	NM_001099287.2(NIPAL4):c.335-9G>A	NIPAL4	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 1731	NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	NIPAL4 (A176D +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6 +2 more	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 3200165	NM_001099287.2(NIPAL4):c.350T>C (p.Val117Ala)	NIPAL4 (V117A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 715335	NM_001099287.2(NIPAL4):c.384A>G (p.Ala128=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711391	NM_001099287.2(NIPAL4):c.396G>A (p.Thr132=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1994481	NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)	NIPAL4	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 1259213	NM_001099287.2(NIPAL4):c.425+281T>C	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638543	NM_001099287.2(NIPAL4):c.426-3del	NIPAL4	Deletion (intron variant)	Autosomal recessive congenital ichthyosis 6	GPathogenic
Select item 2303704	NM_001099287.2(NIPAL4):c.433C>T (p.Leu145Phe)	NIPAL4 (L145F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1181763	NM_001099287.2(NIPAL4):c.453G>A (p.Arg151=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3200167	NM_001099287.2(NIPAL4):c.458G>A (p.Ser153Asn)	NIPAL4 (S134N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663217	NM_001099287.2(NIPAL4):c.479T>A (p.Leu160Gln)	NIPAL4 (L141Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 372383	NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)	NIPAL4 (G230R +3 more)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +1 more	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 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 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 352515	NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe)	NIPAL4 (V244F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3299795	NM_001099287.2(NIPAL4):c.563T>C (p.Met188Thr)	NIPAL4 (M188T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379936	NM_001099287.2(NIPAL4):c.584C>T (p.Thr195Ile)	NIPAL4 (T195I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2297804	NM_001099287.2(NIPAL4):c.584C>A (p.Thr195Lys)	NIPAL4 (T195K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1182087	NM_001099287.2(NIPAL4):c.586+49C>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181514	NM_001099287.2(NIPAL4):c.586+74G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243354	NM_001099287.2(NIPAL4):c.586+142G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247263	NM_001099287.2(NIPAL4):c.587-167A>C	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign

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