KRT76[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +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 149659	GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3	KRT18, KRT3 +15 more	Copy number gain	See cases	GLikely benign
Select item 2567285	NM_015848.4(KRT76):c.1820C>T (p.Thr607Ile)	KRT76 (T607I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527982	NM_015848.4(KRT76):c.1805C>G (p.Ser602Cys)	KRT76 (S602C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235782	NM_015848.4(KRT76):c.1771A>G (p.Ile591Val)	KRT76 (I591V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551744	NM_015848.4(KRT76):c.1711G>C (p.Gly571Arg)	KRT76 (G571R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348985	NM_015848.4(KRT76):c.1618G>A (p.Gly540Ser)	KRT76 (G540S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466128	NM_015848.4(KRT76):c.1510G>A (p.Val504Met)	KRT76 (V504M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477340	NM_015848.4(KRT76):c.1498T>C (p.Cys500Arg)	KRT76 (C500R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326333	NM_015848.4(KRT76):c.1498T>A (p.Cys500Ser)	KRT76 (C500S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608886	NM_015848.4(KRT76):c.1388G>A (p.Arg463Gln)	KRT76 (R463Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219329	NM_015848.4(KRT76):c.1375G>A (p.Asp459Asn)	KRT76 (D459N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286881	NM_015848.4(KRT76):c.1350G>T (p.Leu450Phe)	KRT76 (L450F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244031	NM_015848.4(KRT76):c.1331A>G (p.Asn444Ser)	KRT76 (N444S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280731	NM_015848.4(KRT76):c.1327G>A (p.Ala443Thr)	KRT76 (A443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345122	NM_015848.4(KRT76):c.1280C>T (p.Thr427Met)	KRT76 (T427M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351163	NM_015848.4(KRT76):c.1235G>A (p.Arg412Gln)	KRT76 (R412Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281778	NM_015848.4(KRT76):c.1232T>C (p.Leu411Pro)	KRT76 (L411P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497683	NM_015848.4(KRT76):c.1096C>T (p.Gln366Ter)	KRT76 (Q366*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2230924	NM_015848.4(KRT76):c.1041C>G (p.Cys347Trp)	KRT76 (C347W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521441	NM_015848.4(KRT76):c.1001G>C (p.Ser334Thr)	KRT76 (S334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338389	NM_015848.4(KRT76):c.986T>G (p.Met329Arg)	KRT76 (M329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380510	NM_015848.4(KRT76):c.838C>T (p.Arg280Cys)	KRT76 (R280C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335162	NM_015848.4(KRT76):c.762C>G (p.Asn254Lys)	KRT76 (N254K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339099	NM_015848.4(KRT76):c.380G>T (p.Gly127Val)	KRT76 (G127V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512580	NM_015848.4(KRT76):c.346T>G (p.Phe116Val)	KRT76 (F116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213056	NM_015848.4(KRT76):c.337G>C (p.Gly113Arg)	KRT76 (G113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224897	NM_015848.4(KRT76):c.319G>A (p.Gly107Ser)	KRT76 (G107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263141	NM_015848.4(KRT76):c.311G>A (p.Gly104Asp)	KRT76 (G104D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533553	NM_015848.4(KRT76):c.82A>G (p.Ser28Gly)	KRT76 (S28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208115	NM_015848.4(KRT76):c.59G>A (p.Arg20His)	KRT76 (R20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359506	NM_015848.4(KRT76):c.58C>T (p.Arg20Cys)	KRT76 (R20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 40