KRT72[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +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 2233301	NM_080747.3(KRT72):c.1510T>G (p.Cys504Gly)	KRT72 (C504G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508787	NM_080747.3(KRT72):c.1499C>T (p.Ser500Leu)	KRT72 (S500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289508	NM_080747.3(KRT72):c.1465G>A (p.Gly489Ser)	KRT72 (G489S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116608	NM_080747.3(KRT72):c.1403G>A (p.Gly468Asp)	KRT72 (G468D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348351	NM_080747.3(KRT72):c.1355G>A (p.Ser452Asn)	KRT72 (S410N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542262	NM_080747.3(KRT72):c.1346C>T (p.Ser449Phe)	KRT72 (S449F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456440	NM_080747.3(KRT72):c.1314G>A (p.Met438Ile)	KRT72 (M396I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214526	NM_080747.3(KRT72):c.1183G>A (p.Ala395Thr)	KRT72 (A395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481303	NM_080747.3(KRT72):c.1171G>C (p.Glu391Gln)	KRT72 (E349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377066	NM_080747.3(KRT72):c.1156C>T (p.Arg386Trp)	KRT72 (R344W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351970	NM_080747.3(KRT72):c.1141G>A (p.Ala381Thr)	KRT72 (A339T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308100	NM_080747.3(KRT72):c.1096G>A (p.Asp366Asn)	KRT72 (D324N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408533	NM_080747.3(KRT72):c.1042C>T (p.Arg348Cys)	KRT72 (R348C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320588	NM_080747.3(KRT72):c.1012C>T (p.Leu338Phe)	KRT72 (L338F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291292	NM_080747.3(KRT72):c.998G>A (p.Gly333Glu)	KRT72 (G333E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289507	NM_080747.3(KRT72):c.994C>G (p.His332Asp)	KRT72 (H332D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116621	NM_080747.3(KRT72):c.965T>C (p.Ile322Thr)	KRT72 (I322T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116620	NM_080747.3(KRT72):c.943G>A (p.Glu315Lys)	KRT72 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116619	NM_080747.3(KRT72):c.937G>A (p.Glu313Lys)	KRT72 (E313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289505	NM_080747.3(KRT72):c.910G>A (p.Glu304Lys)	KRT72 (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116618	NM_080747.3(KRT72):c.899G>A (p.Arg300His)	KRT72 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378895	NM_080747.3(KRT72):c.841G>A (p.Val281Ile)	KRT72 (V281I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289503	NM_080747.3(KRT72):c.829G>A (p.Asp277Asn)	KRT72 (D277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116616	NM_080747.3(KRT72):c.784T>C (p.Cys262Arg)	KRT72 (C262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315381	NM_080747.3(KRT72):c.733G>A (p.Glu245Lys)	KRT72 (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534062	NM_080747.3(KRT72):c.725A>C (p.Asn242Thr)	KRT72 (N242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116615	NM_080747.3(KRT72):c.716C>T (p.Ala239Val)	KRT72 (A239V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116614	NM_080747.3(KRT72):c.707T>C (p.Val236Ala)	KRT72 (V236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289504	NM_080747.3(KRT72):c.706G>A (p.Val236Met)	KRT72 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278847	NM_080747.3(KRT72):c.686T>C (p.Phe229Ser)	KRT72 (F229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116613	NM_080747.3(KRT72):c.665G>A (p.Arg222His)	KRT72 (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397694	NM_080747.3(KRT72):c.652G>A (p.Glu218Lys)	KRT72 (E218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340085	NM_080747.3(KRT72):c.632A>G (p.Tyr211Cys)	KRT72 (Y211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116612	NM_080747.3(KRT72):c.629A>G (p.Asp210Gly)	KRT72 (D210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391517	NM_080747.3(KRT72):c.580G>A (p.Gly194Arg)	KRT72 (G194R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2307008	NM_080747.3(KRT72):c.546C>G (p.Asn182Lys)	KRT72 (N182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389965	NM_080747.3(KRT72):c.460G>C (p.Glu154Gln)	KRT72 (E154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116611	NM_080747.3(KRT72):c.434T>G (p.Phe145Cys)	KRT72 (F145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289506	NM_080747.3(KRT72):c.421G>C (p.Asp141His)	KRT72 (D141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401722	NM_080747.3(KRT72):c.409G>T (p.Ala137Ser)	KRT72 (A137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472710	NM_080747.3(KRT72):c.382C>A (p.Gln128Lys)	KRT72 (Q128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403143	NM_080747.3(KRT72):c.243C>G (p.Ser81Arg)	KRT72 (S81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116610	NM_080747.3(KRT72):c.221T>C (p.Phe74Ser)	KRT72 (F74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216022	NM_080747.3(KRT72):c.212T>C (p.Leu71Pro)	KRT72 (L71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116609	NM_080747.3(KRT72):c.194G>C (p.Arg65Pro)	KRT72 (R65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462077	NM_080747.3(KRT72):c.193C>T (p.Arg65Trp)	KRT72 (R65W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2246757	NM_080747.3(KRT72):c.116A>G (p.Lys39Arg)	KRT72 (K39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116617	NM_080747.3(KRT72):c.82G>C (p.Gly28Arg)	KRT72 (G28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808850	GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3	KRT1, KRT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815527	GRCh37/hg19 12q13.13(chr12:52914323-53238344)x3	KRT73, KRT78 +10 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 57