"GeneDx"[submitter] AND "KRT71"[gene] - ClinVar

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Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244815	NM_033448.3(KRT71):c.1568G>A (p.Arg523Gln)	KRT71 (R523Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257730	NM_033448.3(KRT71):c.1524A>G (p.Leu508=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283050	NM_033448.3(KRT71):c.1391T>G (p.Val464Gly)	KRT71 (V464G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237188	NM_033448.3(KRT71):c.1361-8T>C	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237503	NM_033448.3(KRT71):c.1361-178G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253700	NM_033448.3(KRT71):c.1360+124C>T	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183330	NM_033448.3(KRT71):c.1326-27_1326-25del	KRT71	Microsatellite (intron variant)	not provided	GBenign
Select item 1269556	NM_033448.3(KRT71):c.1325+305T>C	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272611	NM_033448.3(KRT71):c.1325+242G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221989	NM_033448.3(KRT71):c.1325+76A>G	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249854	NM_033448.3(KRT71):c.1105-307T>C	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229132	NM_033448.3(KRT71):c.1104+112A>G	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258229	NM_033448.3(KRT71):c.979-20_979-19del	KRT71	Microsatellite (intron variant)	not provided	GBenign
Select item 1234157	NM_033448.3(KRT71):c.978+42G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261037	NM_033448.3(KRT71):c.814-135C>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227769	NM_033448.3(KRT71):c.813+184G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264718	NM_033448.3(KRT71):c.813+123C>T	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262441	NM_033448.3(KRT71):c.718-114G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250400	NM_033448.3(KRT71):c.717+79G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178097	NM_033448.3(KRT71):c.657-7C>T	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266227	NM_033448.3(KRT71):c.656+129A>G	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177952	NM_033448.3(KRT71):c.442-33A>G	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253923	NM_033448.3(KRT71):c.441+85T>C	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290325	NM_033448.3(KRT71):c.441+75G>C	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278034	NM_033448.3(KRT71):c.364G>A (p.Glu122Lys)	KRT71 (E122K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1235657	NM_033448.3(KRT71):c.319G>A (p.Val107Ile)	KRT71 (V107I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241700	NM_033448.3(KRT71):c.-29T>C	KRT71	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1275671	NC_000012.12:g.52553290C>T	KRT71	Single nucleotide variant	not provided	GBenign
Select item 1276521	NC_000012.12:g.52553392C>T	KRT71	Single nucleotide variant	not provided	GBenign

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Items: 29