6427[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1599894	NM_000422.3(KRT17):c.1275G>A (p.Glu425=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2724979	NM_000422.3(KRT17):c.1274A>G (p.Glu425Gly)	KRT17 (E425G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911731	NM_000422.3(KRT17):c.1271G>T (p.Arg424Leu)	KRT17 (R424L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728538	NM_000422.3(KRT17):c.1271G>A (p.Arg424His)	KRT17 (R424H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1465584	NM_000422.3(KRT17):c.1270C>T (p.Arg424Cys)	KRT17 (R424C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 798837	NM_000422.3(KRT17):c.1239A>G (p.Glu413=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798739	NM_000422.3(KRT17):c.1226G>T (p.Arg409Leu)	KRT17 (R409L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973352	NM_000422.3(KRT17):c.1216C>T (p.Arg406Cys)	KRT17 (R406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628813	NM_000422.3(KRT17):c.1205-19_1205-18delinsGC	KRT17	Indel (intron variant)	not provided	GLikely benign
Select item 2855681	NM_000422.3(KRT17):c.1204C>T (p.Pro402Ser)	KRT17 (P402S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2334418	NM_000422.3(KRT17):c.1193A>G (p.Tyr398Cys)	KRT17 (Y398C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116341	NM_000422.3(KRT17):c.1182C>T (p.His394=)	KRT17	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3037508	NM_000422.3(KRT17):c.1182-9_1182-8dup	KRT17	Duplication (intron variant)	KRT17-related disorder	GLikely benign
Select item 1528628	NM_000422.3(KRT17):c.1182-8dup	KRT17	Duplication (intron variant)	not provided	GBenign
Select item 1584045	NM_000422.3(KRT17):c.1182-8del	KRT17	Deletion (intron variant)	not provided	GBenign
Select item 66181	NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro)	KRT17 (L388P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1995323	NM_000422.3(KRT17):c.1157G>A (p.Arg386His)	KRT17 (R386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722488	NM_000422.3(KRT17):c.1127G>A (p.Arg376Gln)	KRT17 (R376Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1090362	NM_000422.3(KRT17):c.1126C>T (p.Arg376Trp)	KRT17 (R376W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 66180	NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)	KRT17 (L371P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1701322	NM_000422.3(KRT17):c.1101C>A (p.Tyr367Ter)	KRT17 (Y367*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2558843	NM_000422.3(KRT17):c.1061C>A (p.Ala354Asp)	KRT17 (A354D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1581086	NM_000422.3(KRT17):c.1045G>A (p.Val349Met)	KRT17 (V349M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1606949	NM_000422.3(KRT17):c.993A>G (p.Thr331=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065609	NM_000422.3(KRT17):c.964G>A (p.Ala322Thr)	KRT17 (A322T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 523369	NM_000422.3(KRT17):c.960+5G>A	KRT17	Single nucleotide variant (intron variant)	Anonychia	GPathogenic
Select item 2109762	NM_000422.3(KRT17):c.940C>G (p.Leu314Val)	KRT17 (L314V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719519	NM_000422.3(KRT17):c.903G>A (p.Ser301=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116343	NM_000422.3(KRT17):c.875T>C (p.Leu292Pro)	KRT17 (L292P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150307	NM_000422.3(KRT17):c.852C>T (p.Arg284=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885227	NM_000422.3(KRT17):c.851G>T (p.Arg284Leu)	KRT17 (R284L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982137	NM_000422.3(KRT17):c.850C>T (p.Arg284Cys)	KRT17 (R284C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191411	NM_000422.3(KRT17):c.835-8G>C	KRT17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773316	NM_000422.3(KRT17):c.834+5G>A	KRT17	Single nucleotide variant (intron variant)	Steatocystoma multiplex +2 more	GBenign/Likely benign
Select item 2706375	NM_000422.3(KRT17):c.834+3G>C	KRT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2044927	NM_000422.3(KRT17):c.834+3G>A	KRT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2167967	NM_000422.3(KRT17):c.814G>A (p.Glu272Lys)	KRT17 (E272K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983870	NM_000422.3(KRT17):c.813C>T (p.Ala271=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960881	NM_000422.3(KRT17):c.803G>T (p.Arg268Leu)	KRT17 (R268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794186	NM_000422.3(KRT17):c.784A>T (p.Lys262Ter)	KRT17 (K262*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2220130	NM_000422.3(KRT17):c.770G>A (p.Arg257His)	KRT17 (R257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722551	NM_000422.3(KRT17):c.762C>T (p.Asn254=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1557086	NM_000422.3(KRT17):c.751C>T (p.Arg251Cys)	KRT17 (R251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2696297	NM_000422.3(KRT17):c.744C>A (p.Asp248Glu)	KRT17 (D248E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946553	NM_000422.3(KRT17):c.744C>G (p.Asp248Glu)	KRT17 (D248E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047324	NM_000422.3(KRT17):c.729T>G (p.Ala243=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder	GLikely benign
Select item 3289347	NM_000422.3(KRT17):c.706G>A (p.Glu236Lys)	KRT17 (E236K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417338	NM_000422.3(KRT17):c.689G>A (p.Arg230Gln)	KRT17 (R230Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726926	NM_000422.3(KRT17):c.681C>T (p.Asn227=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1959676	NM_000422.3(KRT17):c.673-7T>C	KRT17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919633	NM_000422.3(KRT17):c.672+5G>A	KRT17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 768883	NM_000422.3(KRT17):c.667G>A (p.Glu223Lys)	KRT17 (E223K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712854	NM_000422.3(KRT17):c.666C>T (p.His222=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289346	NM_000422.3(KRT17):c.639G>T (p.Glu213Asp)	KRT17 (E213D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289345	NM_000422.3(KRT17):c.623T>C (p.Ile208Thr)	KRT17 (I208T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727502	NM_000422.3(KRT17):c.606C>T (p.Ala202=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713582	NM_000422.3(KRT17):c.568C>T (p.Leu190=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168683	NM_000422.3(KRT17):c.516-6C>T	KRT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269508	NM_000422.3(KRT17):c.515+42C>G	KRT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1905137	NM_000422.3(KRT17):c.515+19C>T	KRT17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784357	NM_000422.3(KRT17):c.508C>T (p.Arg170Cys)	KRT17 (R170C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1958080	NM_000422.3(KRT17):c.488G>A (p.Arg163His)	KRT17 (R163H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 793466	NM_000422.3(KRT17):c.447C>G (p.Thr149=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030037	NM_000422.3(KRT17):c.433-20C>T	KRT17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986667	NM_000422.3(KRT17):c.414T>C (p.Ile138=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986668	NM_000422.3(KRT17):c.410C>T (p.Thr137Ile)	KRT17 (T137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808261	NM_000422.3(KRT17):c.379C>T (p.Pro127Ser)	KRT17 (P127S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521226	NM_000422.3(KRT17):c.374C>G (p.Pro125Arg)	KRT17 (P125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383730	NM_000422.3(KRT17):c.373C>A (p.Pro125Thr)	KRT17 (P125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047810	NM_000422.3(KRT17):c.372C>T (p.Ala124=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder	GLikely benign
Select item 2888549	NM_000422.3(KRT17):c.349C>T (p.Arg117Cys)	KRT17 (R117C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66188	NM_000422.3(KRT17):c.325A>G (p.Asn109Asp)	KRT17 (N109D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 713212	NM_000422.3(KRT17):c.319G>A (p.Glu107Lys)	KRT17 (E107K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 66187	NM_000422.3(KRT17):c.309T>C (p.Arg103=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 14599	NM_000422.3(KRT17):c.304G>A (p.Val102Met)	KRT17 (V102M)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 66186	NM_000422.3(KRT17):c.295_303del (p.Leu99_Lys101del)	KRT17	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 1436117	NM_000422.3(KRT17):c.300C>A (p.Asp100Glu)	KRT17 (D100E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66185	NM_000422.3(KRT17):c.287_298del (p.Ala96_Leu99del)	KRT17	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66183	NM_000422.3(KRT17):c.274_297del (p.Asn92_Leu99del)	KRT17	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 14598	NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)	KRT17 (L99P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14593	NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del)	KRT17	Deletion (inframe_deletion)	Pachyonychia congenita 2	GPathogenic
Select item 265321	NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)	KRT17 (S97del)	Microsatellite (inframe_deletion)	Steatocystoma multiplex +2 more	GPathogenic/Likely pathogenic
Select item 14588	NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)	KRT17 (Y98D)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14596	NM_000422.3(KRT17):c.284T>C (p.Leu95Pro)	KRT17 (L95P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14595	NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)	KRT17 (L95Q)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14594	NM_000422.3(KRT17):c.281G>C (p.Arg94Pro)	KRT17 (R94P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14590	NM_000422.3(KRT17):c.281G>A (p.Arg94His)	KRT17 (R94H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14591	NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	KRT17 (R94C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14587	NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)	KRT17 (N92S)	Single nucleotide variant (missense variant)	Abnormality of the skin +3 more	GPathogenic
Select item 14589	NM_000422.3(KRT17):c.274A>C (p.Asn92His)	KRT17 (N92H)	Single nucleotide variant (missense variant)	Steatocystoma multiplex	GPathogenic
Select item 14586	NM_000422.3(KRT17):c.274A>G (p.Asn92Asp)	KRT17 (N92D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66182	NM_000422.3(KRT17):c.263T>A (p.Met88Lys)	KRT17 (M88K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14592	NM_000422.3(KRT17):c.263T>C (p.Met88Thr)	KRT17 (M88T)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 3003855	NM_000422.3(KRT17):c.244G>A (p.Gly82Arg)	KRT17 (G82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579370	NM_000422.3(KRT17):c.242_243delinsTC (p.Ala81Val)	KRT17 (A81V)	Indel (missense variant)	not provided	GUncertain significance
Select item 2740088	NM_000422.3(KRT17):c.225T>C (p.Gly75=)	KRT17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361893	NM_000422.3(KRT17):c.213C>A (p.Ser71Arg)	KRT17 (S71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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