"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPINK5"[g - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260048	NM_006846.4(SPINK5):c.209+15C>T	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign
Select item 139255	NM_006846.4(SPINK5):c.531G>A (p.Arg177=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 785438	NM_006846.4(SPINK5):c.738C>T (p.Val246=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +2 more	GBenign
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 351519	NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)	SPINK5 (R268C)	Single nucleotide variant (missense variant)	SPINK5-related disorder +3 more	GBenign/Likely benign
Select item 260056	NM_006846.4(SPINK5):c.882+20A>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign
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)	not provided +3 more	GBenign
Select item 260042	NM_006846.4(SPINK5):c.1093-10A>G	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign
Select item 260043	NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn)	SPINK5 (S368N)	Single nucleotide variant (missense variant)	Netherton syndrome +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 1143257	NM_006846.4(SPINK5):c.1221-8T>C	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa +1 more	GLikely benign
Select item 1541178	NM_006846.4(SPINK5):c.1245A>G (p.Lys415=)	SPINK5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 5269	NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)	SPINK5 (K420E)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +3 more	GBenign
Select item 260044	NM_006846.4(SPINK5):c.1302+19G>A	SPINK5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 260045	NM_006846.4(SPINK5):c.1344G>A (p.Arg448=)	SPINK5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 260046	NM_006846.4(SPINK5):c.1389A>G (p.Gly463=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +3 more	GBenign
Select item 351523	NM_006846.4(SPINK5):c.1431-10T>G	SPINK5	Single nucleotide variant (intron variant)	SPINK5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 784576	NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys)	SPINK5 (R484K)	Single nucleotide variant (missense variant)	Ichthyosis linearis circumflexa +3 more	GConflicting classifications of pathogenicity
Select item 391954	NM_006846.4(SPINK5):c.1539G>A (p.Glu513=)	SPINK5	Single nucleotide variant (synonymous variant)	SPINK5-related disorder +2 more	GLikely benign
Select item 260047	NM_006846.4(SPINK5):c.1557C>A (p.Gly519=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +3 more	GBenign
Select item 351526	NM_006846.4(SPINK5):c.1607+7G>T	SPINK5	Single nucleotide variant (intron variant)	SPINK5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3041226	NM_006846.4(SPINK5):c.1650A>G (p.Lys550=)	SPINK5	Single nucleotide variant (synonymous variant)	SPINK5-related disorder	GLikely benign
Select item 194856	NM_006846.4(SPINK5):c.1659C>T (p.Val553=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +3 more	GBenign
Select item 1921657	NM_006846.4(SPINK5):c.1692+8_1692+11del	SPINK5	Deletion (intron variant)	Ichthyosis linearis circumflexa +1 more	GLikely benign
Select item 139261	NM_006846.4(SPINK5):c.1851T>C (p.Ala617=)	SPINK5	Single nucleotide variant (synonymous variant)	Ichthyosis linearis circumflexa +2 more	GBenign
Select item 799641	NM_006846.4(SPINK5):c.1887+10C>G	SPINK5	Single nucleotide variant (intron variant)	Ichthyosis linearis circumflexa +1 more	GLikely benign
Select item 1628116	NM_006846.4(SPINK5):c.1899T>C (p.Asp633=)	SPINK5	Single nucleotide variant (synonymous variant)	SPINK5-related disorder +1 more	GLikely benign
Select item 418504	NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp)	SPINK5 (G655D)	Single nucleotide variant (missense variant)	SPINK5-related disorder +3 more	GConflicting classifications of pathogenicity
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)	not specified +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 260052	NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg)	SPINK5 (S887R)	Single nucleotide variant (missense variant)	Netherton syndrome +3 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 260053	NM_006846.4(SPINK5):c.2667-4G>A	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign/Likely benign
Select item 351536	NM_006846.4(SPINK5):c.2754A>G (p.Glu918=)	SPINK5	Single nucleotide variant (synonymous variant)	SPINK5-related disorder +3 more	GBenign
Select item 529165	NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys)	SPINK5 (R932K +1 more)	Single nucleotide variant (missense variant)	SPINK5-related disorder +2 more	GLikely benign
Select item 351538	NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala)	SPINK5 (V955A +1 more)	Single nucleotide variant (missense variant)	SPINK5-related disorder +3 more	GBenign
Select item 260054	NM_006846.4(SPINK5):c.2965-10G>C	SPINK5	Single nucleotide variant (intron variant)	Netherton syndrome +3 more	GBenign
Select item 260055	NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=)	SPINK5	Single nucleotide variant (synonymous variant)	Netherton syndrome +3 more	GBenign
Select item 3035635	NM_006846.4(SPINK5):c.6_8dup	SPINK5	Duplication (3 prime UTR variant)	SPINK5-related disorder	GLikely benign

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Items: 43