"Illumina Laboratory Services, Illumina"[submitter] AND "KRT1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309631	NM_006121.4(KRT1):c.*372G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309632	NM_006121.4(KRT1):c.*344C>T	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309633	NM_006121.4(KRT1):c.*275G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309634	NM_006121.4(KRT1):c.*95G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309635	NM_006121.4(KRT1):c.*91T>C	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 883407	NM_006121.4(KRT1):c.*72G>T	KRT1	Single nucleotide variant (3 prime UTR variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 309636	NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala)	KRT1 (T638A)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 309637	NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg)	KRT1 (K633R)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 309638	NM_006121.4(KRT1):c.1677C>T (p.Tyr559=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309639	NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly)	KRT1 (S557G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 881053	NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)	KRT1 (G556S)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GUncertain significance
Select item 881054	NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)	KRT1 (G522S)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 309640	NM_006121.4(KRT1):c.1527C>T (p.His509=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +1 more	GBenign/Likely benign
Select item 881514	NM_006121.4(KRT1):c.1511-11T>C	KRT1	Single nucleotide variant (intron variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GBenign/Likely benign
Select item 309641	NM_006121.4(KRT1):c.1506T>C (p.Ser502=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 309642	NM_006121.4(KRT1):c.1482T>C (p.Ser494=)	KRT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 309643	NM_006121.4(KRT1):c.1475+14G>A	KRT1	Single nucleotide variant (intron variant)	Bullous ichthyosiform erythroderma +1 more	GLikely benign
Select item 66623	NM_006121.4(KRT1):c.1389C>T (p.Arg463=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 66621	NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)	KRT1 (A454S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 883452	NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)	KRT1 (Q453P)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 883453	NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys)	KRT1 (R432C)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign/Likely benign
Select item 309644	NM_006121.4(KRT1):c.1107C>T (p.Ala369=)	KRT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 309645	NM_006121.4(KRT1):c.1074C>T (p.Tyr358=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +3 more	GBenign/Likely benign
Select item 309646	NM_006121.4(KRT1):c.1035C>T (p.Leu345=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 309647	NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn)	KRT1 (S344N)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +3 more	GBenign
Select item 881095	NM_006121.4(KRT1):c.1002T>C (p.Asn334=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 309648	NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)	KRT1 (T328S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 309649	NM_006121.4(KRT1):c.762G>A (p.Ser254=)	KRT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 309650	NM_006121.4(KRT1):c.741T>C (p.Ser247=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 881567	NM_006121.4(KRT1):c.729C>T (p.Asp243=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 309651	NM_006121.4(KRT1):c.592-8G>A	KRT1	Single nucleotide variant (intron variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 66656	NM_006121.4(KRT1):c.591+1G>C	KRT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 989261	NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)	KRT1 (S178P)	Single nucleotide variant (missense variant)	Annular epidermolytic ichthyosis	GLikely pathogenic
Select item 309652	NM_006121.4(KRT1):c.477G>C (p.Gln159His)	KRT1 (Q159H)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309653	NM_006121.4(KRT1):c.374G>A (p.Gly125Asp)	KRT1 (G125D)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309654	NM_006121.4(KRT1):c.302G>T (p.Gly101Val)	KRT1 (G101V)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309655	NM_006121.4(KRT1):c.257G>A (p.Arg86His)	KRT1 (R86H)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309656	NM_006121.4(KRT1):c.113G>A (p.Arg38His)	KRT1 (R38H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 66664	NM_006121.4(KRT1):c.75C>T (p.Ile25=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 883502	NM_006121.4(KRT1):c.45G>A (p.Gly15=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GBenign/Likely benign
Select item 309657	NM_006121.4(KRT1):c.-21C>T	KRT1	Single nucleotide variant (5 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign

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Items: 41