ClinVar for MedGen (Select 78645) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433096	NM_006488.3(KHK):c.112C>T (p.Gln38Ter)	KHK (Q38*)	Single nucleotide variant (nonsense)	Essential fructosuria	GUncertain significance
Select item 898436	NM_006488.3(KHK):c.*739G>C	CGREF1, KHK (R114G)	Single nucleotide variant (missense variant +2 more)	Essential fructosuria	GUncertain significance
Select item 898435	NM_006488.3(KHK):c.*623G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GLikely benign
Select item 898434	NM_006488.3(KHK):c.*596C>T	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 898433	NM_006488.3(KHK):c.*554C>T	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GBenign
Select item 898357	NM_006488.3(KHK):c.653+5G>A	KHK	Single nucleotide variant (intron variant)	Essential fructosuria	GUncertain significance
Select item 898356	NM_006488.3(KHK):c.562G>A (p.Val188Met)	KHK (V188M)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 898355	NM_006488.3(KHK):c.507C>T (p.Ser169=)	KHK	Single nucleotide variant (synonymous variant)	Essential fructosuria	GUncertain significance
Select item 897262	NM_006488.3(KHK):c.*259T>G	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 897261	NM_006488.3(KHK):c.*214G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 897260	NM_006488.3(KHK):c.*176G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 897189	NM_006488.3(KHK):c.470A>C (p.Asn157Thr)	KHK (N157T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 897188	NM_006488.3(KHK):c.210-199T>C	KHK (Y112H)	Single nucleotide variant (missense variant +1 more)	Essential fructosuria	GUncertain significance
Select item 897187	NM_006488.3(KHK):c.210-200A>G	KHK	Single nucleotide variant (synonymous variant +1 more)	Essential fructosuria	GUncertain significance
Select item 897186	NM_006488.3(KHK):c.210-253G>A	KHK (V94I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 896845	NM_006488.3(KHK):c.*1008G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GBenign
Select item 896844	NM_006488.3(KHK):c.*954C>T	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 896780	NM_006488.3(KHK):c.*11C>T	KHK, CGREF1	Single nucleotide variant (3 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 896779	NM_006488.3(KHK):c.885T>C (p.Asp295=)	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GLikely benign
Select item 896778	NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)	CGREF1, KHK (C289Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 896717	NM_006488.3(KHK):c.189G>A (p.Met63Ile)	KHK (M63I)	Single nucleotide variant (missense variant)	Essential fructosuria	GLikely benign
Select item 896716	NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)	KHK (S34Y)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 896715	NM_006488.3(KHK):c.48C>T (p.Val16=)	KHK	Single nucleotide variant (synonymous variant)	Essential fructosuria	GUncertain significance
Select item 895443	NM_006488.3(KHK):c.*896T>G	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 895377	NM_006488.3(KHK):c.826G>A (p.Glu276Lys)	CGREF1, KHK (E276K)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 895376	NM_006488.3(KHK):c.811+5G>C	KHK, CGREF1	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GBenign
Select item 895375	NM_006488.3(KHK):c.698T>G (p.Leu233Arg)	CGREF1, KHK (L233R)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 895374	NM_006488.3(KHK):c.688G>A (p.Ala230Thr)	CGREF1, KHK (A230T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 895373	NM_006488.3(KHK):c.687C>T (p.Gly229=)	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 895296	NM_006488.3(KHK):c.19C>T (p.Leu7=)	KHK	Single nucleotide variant (synonymous variant)	Essential fructosuria	GUncertain significance
Select item 895295	NM_006488.3(KHK):c.15G>A (p.Gln5=)	KHK	Single nucleotide variant (synonymous variant)	Essential fructosuria	GUncertain significance
Select item 711815	NM_006488.3(KHK):c.879C>A (p.Gly293=)	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 369340	NM_006488.3(KHK):c.*1009T>G	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria +1 more	GBenign
Select item 335518	NM_006488.3(KHK):c.*810A>C	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335517	NM_006488.3(KHK):c.*806G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GBenign
Select item 335516	NM_006488.3(KHK):c.*791G>A	CGREF1, KHK	Single nucleotide variant (synonymous variant +2 more)	Essential fructosuria	GUncertain significance
Select item 335515	NM_006488.3(KHK):c.*767C>T	CGREF1, KHK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 335514	NM_006488.3(KHK):c.*754T>C	CGREF1, KHK (I109V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 335513	NM_006488.3(KHK):c.*580T>C	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 335512	NM_006488.3(KHK):c.*540G>C	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 335511	NM_006488.3(KHK):c.*505G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GBenign
Select item 335510	NM_006488.3(KHK):c.*469G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 335509	NM_006488.3(KHK):c.*326G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335508	NM_006488.3(KHK):c.*200A>G	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335507	NM_006488.3(KHK):c.*198A>C	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335506	NM_006488.3(KHK):c.*159G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335505	NM_006488.3(KHK):c.*79G>A	CGREF1, KHK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 335504	NM_006488.3(KHK):c.*52C>T	KHK, CGREF1	Single nucleotide variant (synonymous variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335503	NM_006488.3(KHK):c.*49C>T	CGREF1, KHK (M128I)	Single nucleotide variant (missense variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335502	NM_006488.3(KHK):c.*28T>C	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 335501	NM_006488.3(KHK):c.*27A>G	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant)	Essential fructosuria	GLikely benign
Select item 335500	NM_006488.3(KHK):c.*20AC[2]	CGREF1, KHK	Microsatellite (3 prime UTR variant)	Essential fructosuria	GLikely benign
Select item 335499	NM_006488.3(KHK):c.820G>A (p.Val274Met)	CGREF1, KHK (V274M)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335498	NM_006488.3(KHK):c.818G>A (p.Ser273Asn)	CGREF1, KHK (S273N)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335497	NM_006488.3(KHK):c.790G>A (p.Val264Ile)	CGREF1, KHK (V264I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335496	NM_006488.3(KHK):c.680AGG[1] (p.Glu228del)	CGREF1, KHK (E228del)	Microsatellite (3 prime UTR variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335495	NM_006488.3(KHK):c.643G>C (p.Val215Leu)	KHK (V215L)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 335494	NM_006488.3(KHK):c.557G>A (p.Gly186Glu)	KHK (G186E)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 335493	NM_006488.3(KHK):c.527G>A (p.Arg176Gln)	KHK (R176Q)	Single nucleotide variant (missense variant)	Essential fructosuria	GLikely benign
Select item 335492	NM_006488.3(KHK):c.500G>A (p.Arg167Gln)	KHK (R167Q)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 335491	NM_006488.3(KHK):c.499C>T (p.Arg167Trp)	KHK (R167W)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 335490	NM_006488.3(KHK):c.473C>A (p.Thr158Asn)	KHK (T158N)	Single nucleotide variant (missense variant)	Essential fructosuria	GUncertain significance
Select item 335489	NM_006488.3(KHK):c.463G>A (p.Ala155Thr)	KHK (A155T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 335488	NM_006488.3(KHK):c.210-211C>T	KHK (R108C)	Single nucleotide variant (intron variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335487	NM_006488.3(KHK):c.210-245C>G	KHK (I96M)	Single nucleotide variant (missense variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335486	NM_006488.3(KHK):c.210-283C>T	KHK (R84C)	Single nucleotide variant (missense variant +1 more)	Essential fructosuria	GUncertain significance
Select item 335485	NM_006488.3(KHK):c.210-328A>G	KHK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 335484	NM_006488.3(KHK):c.210-334C>T	KHK	Single nucleotide variant (intron variant)	Essential fructosuria	GUncertain significance
Select item 335483	NM_006488.3(KHK):c.159C>T (p.Leu53=)	KHK	Single nucleotide variant (synonymous variant)	Essential fructosuria +1 more	GBenign
Select item 335482	NM_006488.3(KHK):c.145G>A (p.Val49Ile)	KHK (V49I)	Single nucleotide variant (missense variant)	Essential fructosuria +1 more	GBenign
Select item 335481	NM_006488.3(KHK):c.-15T>G	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 335480	NM_006488.3(KHK):c.-97G>A	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 335479	NM_006488.3(KHK):c.-140G>A	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 335478	NM_006488.3(KHK):c.-245G>A	KHK, LOC129933358	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 335477	NM_006488.3(KHK):c.-324C>T	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria +1 more	GBenign
Select item 335476	NM_006488.3(KHK):c.-379T>A	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GUncertain significance
Select item 335475	NM_006488.3(KHK):c.-444C>A	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GBenign
Select item 335474	NM_006488.3(KHK):c.-449T>G	KHK	Single nucleotide variant (5 prime UTR variant)	Essential fructosuria	GBenign
Select item 335473	NM_006488.3(KHK):c.-469A>C	KHK	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 12032	NM_006488.3(KHK):c.127G>A (p.Ala43Thr)	KHK (A43T)	Single nucleotide variant (missense variant)	Essential fructosuria	GPathogenic
Select item 12031	NM_006488.3(KHK):c.118G>A (p.Gly40Arg)	KHK (G40R)	Single nucleotide variant (missense variant)	Essential fructosuria	GPathogenic

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Items: 81