2027[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 1281278	NC_000017.11:g.4949010G>A	ENO3, LOC130060055 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1265595	NC_000017.11:g.4949168C>T	ENO3, PFN1	Single nucleotide variant	not provided	GBenign
Select item 1200806	NC_000017.11:g.4949328G>T	ENO3, LOC130060056 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 324133	NM_053013.4(ENO3):c.-88G>A	ENO3	Single nucleotide variant (genic upstream transcript variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GBenign/Likely benign
Select item 517045	NM_053013.4(ENO3):c.-3+3C>G	ENO3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 324134	NM_053013.4(ENO3):c.-3+3C>T	ENO3	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency +2 more	GBenign
Select item 680914	NM_053013.4(ENO3):c.-3+15C>G	ENO3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 390563	NM_053013.4(ENO3):c.-2-9G>C	ENO3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2050829	NM_053013.4(ENO3):c.3G>A (p.Met1Ile)	ENO3 (M10I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2420050	NM_053013.4(ENO3):c.6C>T (p.Ala2=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 892245	NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)	ENO3 (Q4P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 1950599	NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)	ENO3 (A8T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2313157	NM_053013.4(ENO3):c.25C>T (p.Arg9Trp)	ENO3 (R18W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051199	NM_053013.4(ENO3):c.34T>C (p.Leu12=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2715314	NM_053013.4(ENO3):c.39C>T (p.Asp13=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2521134	NM_053013.4(ENO3):c.46G>C (p.Gly16Arg)	ENO3 (G25R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858403	NM_053013.4(ENO3):c.49A>G (p.Asn17Asp)	ENO3 (N17D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2063361	NM_053013.4(ENO3):c.56C>T (p.Thr19Met)	ENO3 (T19M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 594898	NM_053013.4(ENO3):c.64G>A (p.Val22Met)	ENO3 (V22M)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 1604065	NM_053013.4(ENO3):c.66G>A (p.Val22=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 808199	NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)	ENO3 (T26K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 596813	NM_053013.4(ENO3):c.77C>T (p.Thr26Met)	ENO3 (T26M)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 387136	NM_053013.4(ENO3):c.78G>A (p.Thr26=)	ENO3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1023135	NM_053013.4(ENO3):c.79G>A (p.Ala27Thr)	ENO3 (A27T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1448100	NM_053013.4(ENO3):c.83A>C (p.Lys28Thr)	ENO3 (K28T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1964077	NM_053013.4(ENO3):c.85+4A>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2727812	NM_053013.4(ENO3):c.85+14C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2761909	NM_053013.4(ENO3):c.85+15A>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1239276	NM_053013.4(ENO3):c.86-266C>T	ENO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179632	NM_053013.4(ENO3):c.86-143C>T	ENO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3014786	NM_053013.4(ENO3):c.86-18C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2121080	NM_053013.4(ENO3):c.86-12C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 384380	NM_053013.4(ENO3):c.86-10C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GBenign/Likely benign
Select item 324135	NM_053013.4(ENO3):c.86-3del	ENO3	Deletion (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GBenign/Likely benign
Select item 2891641	NM_053013.4(ENO3):c.87C>T (p.Gly29=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1539523	NM_053013.4(ENO3):c.87C>A (p.Gly29=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2067717	NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)	ENO3 (R30* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2055810	NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)	ENO3 (F31Y +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1974878	NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)	ENO3 (R32* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2142629	NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)	ENO3 (R32Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1919482	NM_053013.4(ENO3):c.99A>T (p.Ala33=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1479464	NM_053013.4(ENO3):c.103G>A (p.Val35Met)	ENO3 (V44M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2027830	NM_053013.4(ENO3):c.105G>A (p.Val35=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2908521	NM_053013.4(ENO3):c.108C>T (p.Pro36=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 931059	NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)	ENO3 (A39T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 2156836	NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)	ENO3 (Y44C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1548828	NM_053013.4(ENO3):c.132T>C (p.Tyr44=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2192184	NM_053013.4(ENO3):c.135G>A (p.Glu45=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1947787	NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)	ENO3 (E48K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1975190	NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)	ENO3 (D51Y +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2888907	NM_053013.4(ENO3):c.153C>T (p.Asp51=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1410891	NM_053013.4(ENO3):c.154G>A (p.Gly52Arg)	ENO3 (G61R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1163998	NM_053013.4(ENO3):c.157del (p.Asp53fs)	ENO3 (D53fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1361398	NM_053013.4(ENO3):c.159C>A (p.Asp53Glu)	ENO3 (D53E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1004098	NM_053013.4(ENO3):c.166C>T (p.Arg56Cys)	ENO3 (R56C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2111817	NM_053013.4(ENO3):c.181+6_181+8del	ENO3	Microsatellite (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1646297	NM_053013.4(ENO3):c.181+5G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1991020	NM_053013.4(ENO3):c.181+16C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2978483	NM_053013.4(ENO3):c.181+17G>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2723176	NM_053013.4(ENO3):c.181+17G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1327178	NM_053013.4(ENO3):c.182-34T>C	ENO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020357	NM_053013.4(ENO3):c.182-18A>G	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 668341	NM_053013.4(ENO3):c.182-16C>T	ENO3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 383273	NM_053013.4(ENO3):c.182-15C>T	ENO3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2187814	NM_053013.4(ENO3):c.182-7T>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1443696	NM_053013.4(ENO3):c.182G>A (p.Gly61Glu)	ENO3 (G61E +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2915833	NM_053013.4(ENO3):c.186C>T (p.Val62=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 381206	NM_053013.4(ENO3):c.201G>A (p.Glu67=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2060759	NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)	ENO3 (N70S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2343379	NM_053013.4(ENO3):c.211A>G (p.Asn71Asp)	ENO3 (N80D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2152491	NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)	ENO3 (N71G +1 more)	Indel (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 324136	NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)	ENO3 (N71S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 324137	NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)	ENO3 (A76P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2971671	NM_053013.4(ENO3):c.228T>C (p.Ala76=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2810293	NM_053013.4(ENO3):c.228T>G (p.Ala76=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2160363	NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)	ENO3 (Q79* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 835452	NM_053013.4(ENO3):c.240G>A (p.Lys80=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1443690	NM_053013.4(ENO3):c.240+8G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 1918909	NM_053013.4(ENO3):c.240+9G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 441108	NM_053013.4(ENO3):c.240+13G>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	Gnot provided
Select item 2180694	NM_053013.4(ENO3):c.240+16C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 381414	NM_053013.4(ENO3):c.240+17G>A	ENO3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2034064	NM_053013.4(ENO3):c.240+18C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2724197	NM_053013.4(ENO3):c.240+20C>G	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 1241824	NM_053013.4(ENO3):c.240+62C>G	ENO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672574	NM_053013.4(ENO3):c.241-11C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign

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