ClinVar for Gene (Select 10669) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266760	NM_006569.6(CGREF1):c.569A>C (p.Glu190Ala)	CGREF1 (E190A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266759	NM_006569.6(CGREF1):c.557G>A (p.Gly186Asp)	CGREF1 (G186D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266758	NM_006569.6(CGREF1):c.881G>C (p.Gly294Ala)	CGREF1 (G294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266756	NM_006569.6(CGREF1):c.18G>A (p.Met6Ile)	CGREF1 (M6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3143970	NM_006569.6(CGREF1):c.502A>G (p.Arg168Gly)	CGREF1 (R168G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143969	NM_006569.6(CGREF1):c.423C>A (p.Asn141Lys)	CGREF1 (N141K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143968	NM_006569.6(CGREF1):c.370G>A (p.Glu124Lys)	CGREF1 (E124K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062593	GRCh37/hg19 2p23.3(chr2:27319597-27459379)x3	ABHD1, ATRAID +7 more	Copy number gain	not specified	GUncertain significance
Select item 3041282	NM_006488.3(KHK):c.817A>G (p.Ser273Gly)	CGREF1, KHK (S273G)	Single nucleotide variant (3 prime UTR variant +1 more)	KHK-related disorder	GLikely benign
Select item 2568190	NM_006569.6(CGREF1):c.428C>T (p.Pro143Leu)	CGREF1 (P143L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512936	NM_006569.6(CGREF1):c.883G>A (p.Glu295Lys)	CGREF1 (E295K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512935	NM_006569.6(CGREF1):c.452A>G (p.Glu151Gly)	CGREF1 (E151G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474195	NM_006488.3(KHK):c.748G>A (p.Val250Met)	CGREF1, KHK (V250M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2426685	NC_000002.11:g.(?_27275827)_(27457573_?)dup	ABHD1, AGBL5 +10 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2400207	NM_006569.6(CGREF1):c.653T>A (p.Val218Asp)	CGREF1 (V218D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379617	NM_006488.3(KHK):c.683A>T (p.Glu228Val)	CGREF1, KHK (E228V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2353359	NM_006569.6(CGREF1):c.370G>C (p.Glu124Gln)	CGREF1 (E124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341113	NM_001166240.2(CGREF1):c.380C>T (p.Ala127Val)	CGREF1, KHK (A127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324518	NM_006569.6(CGREF1):c.931G>A (p.Val311Ile)	CGREF1 (V311I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254846	NM_006569.6(CGREF1):c.418A>C (p.Ile140Leu)	CGREF1 (I140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243250	NM_006569.6(CGREF1):c.136G>A (p.Glu46Lys)	CGREF1 (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1330199	GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1	EMILIN1, AGBL5 +10 more	Copy number loss	Ritscher-Schinzel syndrome 4	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
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 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 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	CGREF1, KHK	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 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	CGREF1, KHK	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 728529	NM_006488.3(KHK):c.654-9G>A	CGREF1, KHK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 687394	GRCh37/hg19 2p23.3(chr2:27311743-27362371)x1	ABHD1, CGREF1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
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)	Essential fructosuria +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)	Essential fructosuria +1 more	GBenign
Select item 335504	NM_006488.3(KHK):c.*52C>T	CGREF1, KHK	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)	Essential fructosuria +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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 85