C0079583[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334204	NM_173076.3(ABCA12):c.1052_1055dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GBenign
Select item 334212	NM_173076.3(ABCA12):c.*539dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GLikely benign
Select item 334213	NM_173076.3(ABCA12):c.522_524dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 334223	NM_173076.3(ABCA12):c.7240-17_7240-15del	ABCA12, SNHG31	Microsatellite (intron variant)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
Select item 334236	NM_173076.3(ABCA12):c.5381+11_5381+14del	ABCA12	Microsatellite (intron variant)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
Select item 352523	NM_001099287.2(NIPAL4):c.1103C>T (p.Pro368Leu)	NIPAL4 (P430L +3 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352528	NM_001099287.2(NIPAL4):c.227_228delinsAG	NIPAL4	Indel (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352529	NM_001099287.2(NIPAL4):c.*385CCT[1]	NIPAL4	Microsatellite (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352530	NM_001099287.2(NIPAL4):c.*405GTT[8]	NIPAL4	Microsatellite (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352531	NM_001099287.2(NIPAL4):c.*405GTT[6]	NIPAL4	Microsatellite (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GLikely benign
Select item 352533	NM_001099287.2(NIPAL4):c.568_572dup	NIPAL4	Duplication (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352536	NM_001099287.2(NIPAL4):c.874_878del	NIPAL4	Deletion (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352544	NM_001099287.2(NIPAL4):c.*1392GAA[1]	NIPAL4	Microsatellite (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 352546	NM_001099287.2(NIPAL4):c.1494_1499dup	NIPAL4	Duplication (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 356555	NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met)	PNPLA1 (V79M)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 356571	NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys)	PNPLA1 (R226K +2 more)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 356577	NM_001374623.1(PNPLA1):c.1595+271C>T	PNPLA1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325866	NM_001139.3(ALOX12B):c.*118dup	ALOX12B	Duplication (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325877	NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met)	ALOX12B (T514M)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325881	NM_001139.3(ALOX12B):c.1276-13G>C	ALOX12B	Single nucleotide variant (intron variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325885	NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg)	ALOX12B (H335R)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325928	NM_001139.3(ALOX12B):c.46_48del (p.Ser16del)	ALOX12B (S16del)	Deletion (inframe_deletion)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
Select item 325935	NM_001139.3(ALOX12B):c.-157C>T	ALOX12B	Single nucleotide variant (5 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325960	NM_021628.3(ALOXE3):c.1764C>T (p.His588=)	ALOXE3	Single nucleotide variant (synonymous variant)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
Select item 325970	NM_021628.3(ALOXE3):c.1305+15del	ALOXE3	Deletion (intron variant)	Congenital ichthyosiform erythroderma +1 more	GBenign
Select item 328441	NM_173483.4(CYP4F22):c.939+15_939+16del	CYP4F22	Deletion (intron variant)	Autosomal recessive congenital ichthyosis 5 +2 more	GBenign
Select item 328442	NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA	CYP4F22	Indel (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328455	NM_173483.4(CYP4F22):c.*421dup	CYP4F22	Duplication (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance

ClinVar

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Items: 28