2582[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 296823	NM_001008216.2(GALE):c.326_328dup	GALE	Duplication (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 296824	NM_001008216.2(GALE):c.*327A>T	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 875983	NM_001008216.2(GALE):c.*195T>C	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 296825	NM_001008216.2(GALE):c.*192T>C	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 875984	NM_001008216.2(GALE):c.*178G>A	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 875985	NM_001008216.2(GALE):c.*158G>A	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 876964	NM_001008216.2(GALE):c.*69G>A	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 876965	NM_001008216.2(GALE):c.*12T>G	GALE	Single nucleotide variant (3 prime UTR variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2954582	NM_001008216.2(GALE):c.1038G>A (p.Thr346=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 1374302	NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala)	GALE (G343A)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2806211	NM_001008216.2(GALE):c.1014G>A (p.Lys338=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2503917	NM_001008216.2(GALE):c.1004G>A (p.Arg335His)	GALE (R335H)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GLikely pathogenic
Select item 2082448	NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)	GALE (R335C)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 3237475	NM_001008216.2(GALE):c.1000T>C (p.Trp334Arg)	GALE (W334R)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2917621	NM_001008216.2(GALE):c.999C>G (p.Leu333=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 876966	NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)	GALE (L333I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909583	NM_001008216.2(GALE):c.996T>C (p.Asp332=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2860467	NM_001008216.2(GALE):c.993G>A (p.Glu331=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 1014514	NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)	GALE (C330Y)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2908837	NM_001008216.2(GALE):c.989-7G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2896992	NM_001008216.2(GALE):c.989-8T>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2725098	NM_001008216.2(GALE):c.989-8del	GALE	Deletion (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2746626	NM_001008216.2(GALE):c.989-9G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2911631	NM_001008216.2(GALE):c.989-10C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2757636	NM_001008216.2(GALE):c.989-11C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2413534	NM_001008216.2(GALE):c.989-12G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 876967	NM_001008216.2(GALE):c.989-13C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GConflicting classifications of pathogenicity
Select item 2966427	NM_001008216.2(GALE):c.989-16C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2037894	NM_001008216.2(GALE):c.989-18C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2703205	NM_001008216.2(GALE):c.989-19A>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2720699	NM_001008216.2(GALE):c.989-20C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3009047	NM_001008216.2(GALE):c.988+19C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 1628599	NM_001008216.2(GALE):c.988+18C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2850132	NM_001008216.2(GALE):c.988+17C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2752723	NM_001008216.2(GALE):c.988+14T>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2882565	NM_001008216.2(GALE):c.988+12C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3006734	NM_001008216.2(GALE):c.988+11G>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 708263	NM_001008216.2(GALE):c.988+7G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GConflicting classifications of pathogenicity
Select item 1303817	NM_001008216.2(GALE):c.988+5G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency +1 more	GUncertain significance
Select item 596921	NM_001008216.2(GALE):c.979G>C (p.Asp327His)	GALE (D327H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3002983	NM_001008216.2(GALE):c.978G>A (p.Leu326=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 658280	NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)	GALE (G325R)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 3009113	NM_001008216.2(GALE):c.957G>A (p.Gly319=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3681	NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	GALE (G319E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 296826	NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)	GALE (G319R)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2231443	NM_001008216.2(GALE):c.952C>A (p.Leu318Met)	GALE (L318M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2780691	NM_001008216.2(GALE):c.951G>A (p.Glu317=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3338950	NM_001008216.2(GALE):c.937C>T (p.Leu313=)	GALE	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3680	NM_001008216.2(GALE):c.937C>A (p.Leu313Met)	GALE (L313M)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 755520	NM_001008216.2(GALE):c.936C>T (p.Ser312=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2059872	NM_001008216.2(GALE):c.933del (p.Ser312fs)	GALE (S312fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 727769	NM_001008216.2(GALE):c.924C>T (p.Tyr308=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 296827	NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)	GALE (Y308C)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 92891	NM_001008216.2(GALE):c.912G>A (p.Val304=)	GALE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21173	NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)	GALE (G302D)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 1507075	NM_001008216.2(GALE):c.904G>T (p.Gly302Cys)	GALE (G302C)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 1008629	NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)	GALE (R300Q)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 167120	NM_001008216.2(GALE):c.898C>T (p.Arg300Trp)	GALE (R300W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992356	NM_001008216.2(GALE):c.895C>T (p.Arg299Trp)	GALE (R299W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175308	NM_001008216.2(GALE):c.894A>G (p.Ala298=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 1809616	NM_001008216.2(GALE):c.889G>A (p.Val297Met)	GALE (V297M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127758	NM_001008216.2(GALE):c.879G>C (p.Pro293=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 296828	NM_001008216.2(GALE):c.879G>A (p.Pro293=)	GALE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 861930	NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)	GALE (P293L)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GUncertain significance
Select item 2256828	NM_001008216.2(GALE):c.874-1G>T	GALE	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2960429	NM_001008216.2(GALE):c.874-9G>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 874173	NM_001008216.2(GALE):c.874-9G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GConflicting classifications of pathogenicity
Select item 2740719	NM_001008216.2(GALE):c.874-14C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2974769	NM_001008216.2(GALE):c.874-15C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2743672	NM_001008216.2(GALE):c.874-18C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2741282	NM_001008216.2(GALE):c.874-19A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 92890	NM_001008216.2(GALE):c.873+20C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency +1 more	GBenign
Select item 2731496	NM_001008216.2(GALE):c.873+18A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2995965	NM_001008216.2(GALE):c.873+14_873+15insCA	GALE	Insertion (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 296829	NM_001008216.2(GALE):c.873+13_873+14insA	GALE	Insertion (intron variant)	UDPglucose-4-epimerase deficiency	GConflicting classifications of pathogenicity
Select item 402890	NM_001008216.2(GALE):c.873+13G>C	GALE	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 92889	NM_001008216.2(GALE):c.873+13G>A	GALE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3003423	NM_001008216.2(GALE):c.873+12C>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 1584127	NM_001008216.2(GALE):c.873+7C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 721136	NM_001008216.2(GALE):c.873+7C>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 531730	NM_001008216.2(GALE):c.873+6C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2014728	NM_001008216.2(GALE):c.873+2T>C	GALE	Single nucleotide variant (splice donor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 646557	NM_001008216.2(GALE):c.873G>A (p.Lys291=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2965452	NM_001008216.2(GALE):c.855G>A (p.Glu285=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2296123	NM_001008216.2(GALE):c.853G>A (p.Glu285Lys)	GALE (E285K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2756967	NM_001008216.2(GALE):c.846G>A (p.Gln282=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2784094	NM_001008216.2(GALE):c.843C>G (p.Val281=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2764052	NM_001008216.2(GALE):c.843C>T (p.Val281=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2876610	NM_001008216.2(GALE):c.822C>T (p.Gly274=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2577283	NM_001008216.2(GALE):c.820G>C (p.Gly274Arg)	GALE (G274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2999805	NM_001008216.2(GALE):c.815del (p.Gly272fs)	GALE (G272fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2978413	NM_001008216.2(GALE):c.813G>A (p.Thr271=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 838412	NM_001008216.2(GALE):c.812C>T (p.Thr271Met)	GALE (T271M)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 1477144	NM_001008216.2(GALE):c.809G>A (p.Gly270Asp)	GALE (G270D)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency	GUncertain significance
Select item 2903811	NM_001008216.2(GALE):c.805C>T (p.Leu269=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2577282	NM_001008216.2(GALE):c.796A>C (p.Ile266Leu)	GALE (I266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 281922	NM_001008216.2(GALE):c.796-1G>T	GALE	Single nucleotide variant (splice acceptor variant)	UDPglucose-4-epimerase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2811746	NM_001008216.2(GALE):c.795+20G>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2761524	NM_001008216.2(GALE):c.795+16A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign

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