"GeneDx"[submitter] AND "KRT2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1313192	NM_000423.3(KRT2):c.1912T>C (p.Phe638Leu)	KRT2 (F638L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310264	NM_000423.3(KRT2):c.1813G>C (p.Gly605Arg)	KRT2 (G605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305981	NM_000423.3(KRT2):c.1694C>T (p.Ser565Phe)	KRT2 (S565F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309598	NM_000423.3(KRT2):c.1650C>T (p.Gly550=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 1261369	NM_000423.3(KRT2):c.1470-184G>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275963	NM_000423.3(KRT2):c.1469+265A>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226120	NM_000423.3(KRT2):c.1469+113A>G	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66192	NM_000423.3(KRT2):c.1462G>A (p.Glu488Lys)	KRT2 (E488K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9310	NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)	KRT2 (E487K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1700990	NM_000423.3(KRT2):c.1430T>A (p.Ile477Asn)	KRT2 (I477N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2663521	NM_000423.3(KRT2):c.1325T>G (p.Leu442Trp)	KRT2 (L442W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257174	NM_000423.3(KRT2):c.1248+22C>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311765	NM_000423.3(KRT2):c.1066T>C (p.Tyr356His)	KRT2 (Y356H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274846	NM_000423.3(KRT2):c.958-316G>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261684	NM_000423.3(KRT2):c.861+62C>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221809	NM_000423.3(KRT2):c.861+62C>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309616	NM_000423.3(KRT2):c.656G>A (p.Gly219Asp)	KRT2 (G219D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1290429	NM_000423.3(KRT2):c.586-90A>G	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268126	NM_000423.3(KRT2):c.586-123G>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421717	NM_000423.3(KRT2):c.566T>C (p.Phe189Ser)	KRT2 (F189S)	Single nucleotide variant (missense variant)	KRT2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2735882	NM_000423.3(KRT2):c.555CAA[2] (p.Asn187del)	KRT2 (N187del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 9316	NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)	KRT2 (N186K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 309618	NM_000423.3(KRT2):c.536G>A (p.Arg179His)	KRT2 (R179H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309623	NM_000423.3(KRT2):c.301A>G (p.Ser101Gly)	KRT2 (S101G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309626	NM_000423.3(KRT2):c.150C>T (p.Gly50=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 779152	NM_000423.3(KRT2):c.100C>T (p.Arg34Trp)	KRT2 (R34W)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
Select item 1297893	NC_000012.12:g.52652460G>A	KRT2	Single nucleotide variant	not provided	GBenign

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Items: 27