KRT71[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 1244815	NM_033448.3(KRT71):c.1568G>A (p.Arg523Gln)	KRT71 (R523Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778635	NM_033448.3(KRT71):c.1567C>T (p.Arg523Trp)	KRT71 (R523W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2055588	NM_033448.3(KRT71):c.1541T>C (p.Leu514Pro)	KRT71 (L514P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2285448	NM_033448.3(KRT71):c.1525G>A (p.Gly509Arg)	KRT71 (G509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257730	NM_033448.3(KRT71):c.1524A>G (p.Leu508=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3014193	NM_033448.3(KRT71):c.1506C>T (p.Asn502=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037078	NM_033448.3(KRT71):c.1485C>T (p.Gly495=)	KRT71	Single nucleotide variant (synonymous variant)	KRT71-related disorder	GBenign
Select item 735373	NM_033448.3(KRT71):c.1477G>A (p.Gly493Arg)	KRT71 (G493R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2591915	NM_033448.3(KRT71):c.1468G>A (p.Val490Met)	KRT71 (V490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305149	NM_033448.3(KRT71):c.1460T>A (p.Val487Glu)	KRT71 (V487E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367442	NM_033448.3(KRT71):c.1423G>A (p.Gly475Ser)	KRT71 (G475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254138	NM_033448.3(KRT71):c.1420G>A (p.Gly474Ser)	KRT71 (G474S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 771895	NM_033448.3(KRT71):c.1414G>T (p.Val472Phe)	KRT71 (V472F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2336267	NM_033448.3(KRT71):c.1409G>A (p.Ser470Asn)	KRT71 (S470N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546273	NM_033448.3(KRT71):c.1408A>G (p.Ser470Gly)	KRT71 (S470G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2189927	NM_033448.3(KRT71):c.1403G>A (p.Arg468Gln)	KRT71 (R468Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349747	NM_033448.3(KRT71):c.1402C>T (p.Arg468Trp)	KRT71 (R468W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1283050	NM_033448.3(KRT71):c.1391T>G (p.Val464Gly)	KRT71 (V464G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2415073	NM_033448.3(KRT71):c.1383C>T (p.Gly461=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714538	NM_033448.3(KRT71):c.1376C>G (p.Thr459Ser)	KRT71 (T459S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1949762	NM_033448.3(KRT71):c.1361-9_1361-8delinsAC	KRT71	Indel (intron variant)	not provided	GUncertain significance
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 1028520	NM_033448.3(KRT71):c.1349C>T (p.Pro450Leu)	KRT71 (P450L)	Single nucleotide variant (missense variant)	Hypotrichosis 13	GUncertain significance
Select item 2805336	NM_033448.3(KRT71):c.1326-11C>T	KRT71	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1599612	NM_033448.3(KRT71):c.1325+7G>A	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1919652	NM_033448.3(KRT71):c.1313G>A (p.Ser438Asn)	KRT71 (S438N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3116603	NM_033448.3(KRT71):c.1298G>A (p.Arg433His)	KRT71 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198407	NM_033448.3(KRT71):c.1238G>A (p.Arg413His)	KRT71 (R413H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067493	NM_033448.3(KRT71):c.1229G>A (p.Arg410Gln)	KRT71 (R410Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2588432	NM_033448.3(KRT71):c.1228C>T (p.Arg410Trp)	KRT71 (R410W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601073	NM_033448.3(KRT71):c.1227G>A (p.Ala409=)	KRT71	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2155124	NM_033448.3(KRT71):c.1198G>A (p.Ala400Thr)	KRT71 (A400T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 799772	NM_033448.3(KRT71):c.1197C>G (p.Gly399=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170821	NM_033448.3(KRT71):c.1185C>T (p.Asp395=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116602	NM_033448.3(KRT71):c.1171C>T (p.Arg391Trp)	KRT71 (R391W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2710440	NM_033448.3(KRT71):c.1155C>T (p.Asn385=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349426	NM_033448.3(KRT71):c.1145G>A (p.Arg382Gln)	KRT71 (R382Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2591878	NM_033448.3(KRT71):c.1140G>T (p.Glu380Asp)	KRT71 (E380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2750713	NM_033448.3(KRT71):c.1105-7T>G	KRT71	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2722258	NM_033448.3(KRT71):c.1092C>T (p.Asn364=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778636	NM_033448.3(KRT71):c.1063A>T (p.Ile355Phe)	KRT71 (I355F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2412078	NM_033448.3(KRT71):c.1058G>A (p.Arg353Gln)	KRT71 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784525	NM_033448.3(KRT71):c.1050G>A (p.Glu350=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045692	NM_033448.3(KRT71):c.1046C>T (p.Ser349Leu)	KRT71 (S349L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1670158	NM_033448.3(KRT71):c.1017C>T (p.Asp339=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2523410	NM_033448.3(KRT71):c.962C>G (p.Ala321Gly)	KRT71 (A321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401697	NM_033448.3(KRT71):c.962C>T (p.Ala321Val)	KRT71 (A321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787396	NM_033448.3(KRT71):c.913C>T (p.Arg305Cys)	KRT71 (R305C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2717275	NM_033448.3(KRT71):c.904G>A (p.Asp302Asn)	KRT71 (D302N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254434	NM_033448.3(KRT71):c.865A>G (p.Met289Val)	KRT71 (M289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3007542	NM_033448.3(KRT71):c.834C>A (p.Ser278=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487340	NM_033448.3(KRT71):c.821C>T (p.Thr274Ile)	KRT71 (T274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2556951	NM_033448.3(KRT71):c.791T>C (p.Phe264Ser)	KRT71 (F264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287854	NM_033448.3(KRT71):c.742A>G (p.Lys248Glu)	KRT71 (K248E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116607	NM_033448.3(KRT71):c.722T>C (p.Val241Ala)	KRT71 (V241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029952	NM_033448.3(KRT71):c.718-9A>T	KRT71	Single nucleotide variant (intron variant)	KRT71-related disorder	GLikely benign
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 2095465	NM_033448.3(KRT71):c.717+6G>T	KRT71	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2397405	NM_033448.3(KRT71):c.709C>T (p.Leu237Phe)	KRT71 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2893899	NM_033448.3(KRT71):c.696C>T (p.Asn232=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1178097	NM_033448.3(KRT71):c.657-7C>T	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021250	NM_033448.3(KRT71):c.657-19G>C	KRT71	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266227	NM_033448.3(KRT71):c.656+129A>G	KRT71	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2293243	NM_033448.3(KRT71):c.644A>G (p.Asp215Gly)	KRT71 (D215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327366	NM_033448.3(KRT71):c.638T>C (p.Val213Ala)	KRT71 (V213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2077241	NM_033448.3(KRT71):c.634G>A (p.Val212Ile)	KRT71 (V212I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1415961	NM_033448.3(KRT71):c.628C>T (p.Arg210Trp)	KRT71 (R210W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769822	NM_033448.3(KRT71):c.615G>A (p.Glu205=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559492	NM_033448.3(KRT71):c.602G>C (p.Arg201Thr)	KRT71 (R201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479354	NM_033448.3(KRT71):c.570G>C (p.Lys190Asn)	KRT71 (K190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718031	NM_033448.3(KRT71):c.516C>T (p.Asn172=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2284537	NM_033448.3(KRT71):c.501G>T (p.Gln167His)	KRT71 (Q167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2713676	NM_033448.3(KRT71):c.482A>G (p.Lys161Arg)	KRT71 (K161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2038977	NM_033448.3(KRT71):c.438C>T (p.Asp146=)	KRT71	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2400289	NM_033448.3(KRT71):c.436G>A (p.Asp146Asn)	KRT71 (D146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116606	NM_033448.3(KRT71):c.427T>A (p.Ser143Thr)	KRT71 (S143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 140460	NM_033448.3(KRT71):c.422T>G (p.Phe141Cys)	KRT71 (F141C)	Single nucleotide variant (missense variant)	Hypotrichosis 13	GPathogenic
Select item 1278034	NM_033448.3(KRT71):c.364G>A (p.Glu122Lys)	KRT71 (E122K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2865132	NM_033448.3(KRT71):c.352G>A (p.Glu118Lys)	KRT71 (E118K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2490680	NM_033448.3(KRT71):c.326A>G (p.Glu109Gly)	KRT71 (E109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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