C5574950[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139256	NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg)	SPINK5 (Q267R)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 505094	NM_006846.4(SPINK5):c.817_818del (p.Asn273fs)	SPINK5 (N273fs)	Deletion (frameshift variant)	Netherton syndrome	GLikely pathogenic
Select item 139257	NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val)	SPINK5 (A335V)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 260041	NM_006846.4(SPINK5):c.1011-12C>T	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign
Select item 260042	NM_006846.4(SPINK5):c.1093-10A>G	SPINK5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 260043	NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn)	SPINK5 (S368N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 139258	NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn)	SPINK5 (D386N)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 139259	NM_006846.4(SPINK5):c.1188T>C (p.His396=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 5269	NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)	SPINK5 (K420E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 260046	NM_006846.4(SPINK5):c.1389A>G (p.Gly463=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign
Select item 260047	NM_006846.4(SPINK5):c.1557C>A (p.Gly519=)	SPINK5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 194856	NM_006846.4(SPINK5):c.1659C>T (p.Val553=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign
Select item 260049	NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln)	SPINK5 (R711Q)	Single nucleotide variant (missense variant)	Netherton syndrome +3 more	GBenign
Select item 260050	NM_006846.4(SPINK5):c.2358C>T (p.Leu786=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign
Select item 260051	NM_006846.4(SPINK5):c.2412C>T (p.Gly804=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign
Select item 139262	NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp)	SPINK5 (E825D)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 139263	NM_006846.4(SPINK5):c.2667-13A>T	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 208615	NM_006846.4(SPINK5):c.2740-127_2740-126del	SPINK5 (V938fs)	Deletion (frameshift variant +1 more)	Netherton syndrome	GUncertain significance
Select item 260055	NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign