KRT84[gene] - ClinVar

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Items: 78

	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 145013	GRCh38/hg38 12q13.13(chr12:52310983-52385900)x3	LOC132090112, LOC132090113 +4 more	Copy number gain	See cases	GBenign
Select item 3116762	NM_033045.4(KRT84):c.1790G>A (p.Arg597Gln)	KRT84 (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116761	NM_033045.4(KRT84):c.1763G>A (p.Arg588His)	KRT84 (R588H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233660	NM_033045.4(KRT84):c.1759G>C (p.Val587Leu)	KRT84 (V587L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257267	NM_033045.4(KRT84):c.1748G>A (p.Arg583His)	KRT84 (R583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116760	NM_033045.4(KRT84):c.1745G>T (p.Gly582Val)	KRT84 (G582V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283570	NM_033045.4(KRT84):c.1744G>A (p.Gly582Ser)	KRT84 (G582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244882	NM_033045.4(KRT84):c.1741G>A (p.Gly581Ser)	KRT84 (G581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116759	NM_033045.4(KRT84):c.1740C>G (p.Ser580Arg)	KRT84 (S580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213215	NM_033045.4(KRT84):c.1720G>C (p.Gly574Arg)	KRT84 (G574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466367	NM_033045.4(KRT84):c.1705C>T (p.Pro569Ser)	KRT84 (P569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116758	NM_033045.4(KRT84):c.1695C>A (p.Ser565Arg)	KRT84 (S565R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263908	NM_033045.4(KRT84):c.1677C>A (p.Ser559Arg)	KRT84 (S559R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2349475	NM_033045.4(KRT84):c.1622C>T (p.Pro541Leu)	KRT84 (P541L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116757	NM_033045.4(KRT84):c.1618G>T (p.Ala540Ser)	KRT84 (A540S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374688	NM_033045.4(KRT84):c.1618G>A (p.Ala540Thr)	KRT84 (A540T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316826	NM_033045.4(KRT84):c.1613G>A (p.Arg538Gln)	KRT84 (R538Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3116756	NM_033045.4(KRT84):c.1612C>T (p.Arg538Trp)	KRT84 (R538W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116755	NM_033045.4(KRT84):c.1603G>A (p.Gly535Ser)	KRT84 (G535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116754	NM_033045.4(KRT84):c.1528G>A (p.Gly510Ser)	KRT84 (G510S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116753	NM_033045.4(KRT84):c.1526G>A (p.Arg509His)	KRT84 (R509H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116752	NM_033045.4(KRT84):c.1525C>T (p.Arg509Cys)	KRT84 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383037	NM_033045.4(KRT84):c.1478G>T (p.Gly493Val)	KRT84 (G493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485319	NM_033045.4(KRT84):c.1454T>C (p.Ile485Thr)	KRT84 (I485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289573	NM_033045.4(KRT84):c.1400G>A (p.Arg467His)	KRT84 (R467H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354580	NM_033045.4(KRT84):c.1387G>A (p.Ala463Thr)	KRT84 (A463T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519589	NM_033045.4(KRT84):c.1328G>A (p.Arg443Gln)	KRT84 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611823	NM_033045.4(KRT84):c.1322T>C (p.Met441Thr)	KRT84 (M441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494820	NM_033045.4(KRT84):c.1298C>A (p.Ala433Asp)	KRT84 (A433D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384965	NM_033045.4(KRT84):c.1205G>A (p.Arg402His)	KRT84 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116750	NM_033045.4(KRT84):c.1190A>G (p.His397Arg)	KRT84 (H397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526919	NM_033045.4(KRT84):c.1163T>A (p.Ile388Asn)	KRT84 (I388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603480	NM_033045.4(KRT84):c.1157G>A (p.Arg386His)	KRT84 (R386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553347	NM_033045.4(KRT84):c.1138G>A (p.Glu380Lys)	KRT84 (E380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475275	NM_033045.4(KRT84):c.1130T>A (p.Ile377Lys)	KRT84 (I377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241237	NM_033045.4(KRT84):c.1123C>T (p.Arg375Cys)	KRT84 (R375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287443	NM_033045.4(KRT84):c.1093G>A (p.Val365Met)	KRT84 (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289569	NM_033045.4(KRT84):c.1045C>T (p.Arg349Trp)	KRT84 (R349W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219646	NM_033045.4(KRT84):c.1039C>T (p.Arg347Cys)	KRT84 (R347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306481	NM_033045.4(KRT84):c.1009G>C (p.Val337Leu)	KRT84 (V337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547143	NM_033045.4(KRT84):c.976C>T (p.Arg326Cys)	KRT84 (R326C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412347	NM_033045.4(KRT84):c.947C>T (p.Thr316Met)	KRT84 (T316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591896	NM_033045.4(KRT84):c.913G>A (p.Glu305Lys)	KRT84 (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538147	NM_033045.4(KRT84):c.901C>G (p.Leu301Val)	KRT84 (L301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116768	NM_033045.4(KRT84):c.878A>G (p.Gln293Arg)	KRT84 (Q293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289571	NM_033045.4(KRT84):c.843G>T (p.Lys281Asn)	KRT84 (K281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458823	NM_033045.4(KRT84):c.823G>A (p.Asp275Asn)	KRT84 (D275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317110	NM_033045.4(KRT84):c.793A>G (p.Asn265Asp)	KRT84 (N265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116767	NM_033045.4(KRT84):c.779G>T (p.Arg260Leu)	KRT84 (R260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116766	NM_033045.4(KRT84):c.763G>C (p.Glu255Gln)	KRT84 (E255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527290	NM_033045.4(KRT84):c.664C>T (p.Arg222Trp)	KRT84 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643015	NM_033045.4(KRT84):c.663G>T (p.Leu221=)	KRT84	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523235	NM_033045.4(KRT84):c.658A>T (p.Asn220Tyr)	KRT84 (N220Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116765	NM_033045.4(KRT84):c.588G>C (p.Lys196Asn)	KRT84 (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388852	NM_033045.4(KRT84):c.569A>G (p.Asn190Ser)	KRT84 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116764	NM_033045.4(KRT84):c.556C>A (p.Leu186Ile)	KRT84 (L186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643016	NM_033045.4(KRT84):c.541G>T (p.Asp181Tyr)	KRT84 (D181Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2248755	NM_033045.4(KRT84):c.448C>G (p.Leu150Val)	KRT84 (L150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289572	NM_033045.4(KRT84):c.413C>T (p.Thr138Ile)	KRT84 (T138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242916	NM_033045.4(KRT84):c.341G>T (p.Gly114Val)	KRT84 (G114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370735	NM_033045.4(KRT84):c.257G>T (p.Gly86Val)	KRT84 (G86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363570	NM_033045.4(KRT84):c.232C>T (p.Arg78Cys)	KRT84 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225520	NM_033045.4(KRT84):c.215C>A (p.Pro72His)	KRT84 (P72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643017	NM_033045.4(KRT84):c.211C>T (p.Arg71Trp)	KRT84 (R71W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3116763	NM_033045.4(KRT84):c.190C>T (p.Arg64Trp)	KRT84 (R64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116769	NM_033045.4(KRT84):c.95G>A (p.Arg32Gln)	KRT84 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240159	NM_033045.4(KRT84):c.83T>C (p.Leu28Pro)	KRT84 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289570	NM_033045.4(KRT84):c.20G>A (p.Arg7Gln)	KRT84 (R7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116751	NM_033045.4(KRT84):c.11G>A (p.Arg4His)	KRT84 (R4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063247	GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063245	GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	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: 78