ClinVar for MedGen (Select 199598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247677	NC_000001.10:g.(?_24122439)_(24144093_?)del	GALE, HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 3247673	NC_000001.10:g.(?_24125085)_(24151905_?)del	GALE, HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
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 3020214	NM_001008216.2(GALE):c.720T>C (p.Asp240=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3020083	NM_001008216.2(GALE):c.352-4C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3013545	NM_001008216.2(GALE):c.732C>G (p.Val244=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3012577	NM_001008216.2(GALE):c.2T>C (p.Met1Thr)	GALE (M1T)	Single nucleotide variant (missense variant +1 more)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 3009976	NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)	GALE (R219*)	Single nucleotide variant (nonsense)	UDPglucose-4-epimerase deficiency	GPathogenic
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 3009047	NM_001008216.2(GALE):c.988+19C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3006995	NM_001008216.2(GALE):c.147G>A (p.Leu49=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3006973	NM_001008216.2(GALE):c.609C>T (p.Gly203=)	GALE	Single nucleotide variant (synonymous 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 3003423	NM_001008216.2(GALE):c.873+12C>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 3002671	NM_001008216.2(GALE):c.3G>A (p.Met1Ile)	GALE (M1I)	Single nucleotide variant (missense variant +1 more)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 3001544	NM_001008216.2(GALE):c.147G>C (p.Leu49=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 3000242	NM_001008216.2(GALE):c.122-18C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2999805	NM_001008216.2(GALE):c.815del (p.Gly272fs)	GALE (G272fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2995965	NM_001008216.2(GALE):c.873+14_873+15insCA	GALE	Insertion (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2993130	NM_001008216.2(GALE):c.695_696del (p.Thr232fs)	GALE (T232fs)	Microsatellite (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2987947	NM_001008216.2(GALE):c.122-20G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2982807	NM_001008216.2(GALE):c.450G>T (p.Thr150=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2981089	NM_001008216.2(GALE):c.486C>T (p.Phe162=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2979015	NM_001008216.2(GALE):c.744C>T (p.Ala248=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2977407	NM_001008216.2(GALE):c.642+7C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2975042	NM_001008216.2(GALE):c.643-19A>G	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 2974658	NM_001008216.2(GALE):c.351+17A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2974621	NM_001008216.2(GALE):c.402T>C (p.Thr134=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2970537	NM_001008216.2(GALE):c.121+7G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2970069	NM_001008216.2(GALE):c.795+13G>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2965452	NM_001008216.2(GALE):c.855G>A (p.Glu285=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2961089	NM_001008216.2(GALE):c.285C>T (p.Gly95=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2960143	NM_001008216.2(GALE):c.288G>A (p.Glu96=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2956879	NM_001008216.2(GALE):c.238-16C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2917621	NM_001008216.2(GALE):c.999C>G (p.Leu333=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2917268	NM_001008216.2(GALE):c.529-10C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2916928	NM_001008216.2(GALE):c.732C>T (p.Val244=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2916749	NM_001008216.2(GALE):c.366C>T (p.His122=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2914031	NM_001008216.2(GALE):c.710-18A>G	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 2911627	NM_001008216.2(GALE):c.477G>A (p.Lys159=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2908837	NM_001008216.2(GALE):c.989-7G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2906271	NM_001008216.2(GALE):c.153G>A (p.Arg51=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2904928	NM_001008216.2(GALE):c.252G>A (p.Ala84=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
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 2902913	NM_001008216.2(GALE):c.54G>T (p.Thr18=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2901146	NM_001008216.2(GALE):c.621C>T (p.Asn207=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2899660	NM_001008216.2(GALE):c.121+11C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2897798	NM_001008216.2(GALE):c.114C>T (p.Ala38=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2897733	NM_001008216.2(GALE):c.528+18A>G	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 2894857	NM_001008216.2(GALE):c.384G>A (p.Val128=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2893384	NM_001008216.2(GALE):c.122-14A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2887006	NM_001008216.2(GALE):c.643-10C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2883145	NM_001008216.2(GALE):c.710-16A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2882625	NM_001008216.2(GALE):c.54G>C (p.Thr18=)	GALE	Single nucleotide variant (synonymous 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 2881970	NM_001008216.2(GALE):c.238-20T>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2881824	NM_001008216.2(GALE):c.345T>A (p.Leu115=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2881803	NM_001008216.2(GALE):c.150G>A (p.Arg50=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2879504	NM_001008216.2(GALE):c.643-6C>T	GALE	Single nucleotide variant (intron 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 2876477	NM_001008216.2(GALE):c.122-11_122-1del	GALE	Deletion (splice acceptor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 2876476	NM_001008216.2(GALE):c.151_154del (p.Arg51fs)	GALE (R51fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2875926	NM_001008216.2(GALE):c.69G>A (p.Leu23=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2874196	NM_001008216.2(GALE):c.352-16A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2873958	NM_001008216.2(GALE):c.773dup (p.Lys259fs)	GALE (K259fs)	Duplication (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2872944	NM_001008216.2(GALE):c.795+13G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2869884	NM_001008216.2(GALE):c.504C>A (p.Ile168=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2868204	NM_001008216.2(GALE):c.643-2A>C	GALE	Single nucleotide variant (splice acceptor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 2866226	NM_001008216.2(GALE):c.1A>G (p.Met1Val)	GALE (M1V)	Single nucleotide variant (missense variant +1 more)	UDPglucose-4-epimerase deficiency	GPathogenic
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 2860332	NM_001008216.2(GALE):c.369G>C (p.Gly123=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2857621	NM_001008216.2(GALE):c.122-14A>C	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2852454	NM_001008216.2(GALE):c.710-12C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2851805	NM_001008216.2(GALE):c.238-17C>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 2849902	NM_001008216.2(GALE):c.351+2T>C	GALE	Single nucleotide variant (splice donor variant)	UDPglucose-4-epimerase deficiency	GLikely pathogenic
Select item 2846111	NM_001008216.2(GALE):c.122-7del	GALE	Deletion (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2845370	NM_001008216.2(GALE):c.122-4C>T	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2844939	NM_001008216.2(GALE):c.642+11A>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2843503	NM_001008216.2(GALE):c.152_155del (p.Arg51fs)	GALE (R51fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2840155	NM_001008216.2(GALE):c.528+19G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2839163	NM_001008216.2(GALE):c.528+8C>G	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2838017	NM_001008216.2(GALE):c.636C>A (p.Val212=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2837803	NM_001008216.2(GALE):c.517del (p.Gln173fs)	GALE (Q173fs)	Deletion (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic
Select item 2836464	NM_001008216.2(GALE):c.529-8T>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2833045	NM_001008216.2(GALE):c.510C>T (p.Asp170=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2831543	NM_001008216.2(GALE):c.121+10G>A	GALE	Single nucleotide variant (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2830440	NM_001008216.2(GALE):c.795+14_795+15del	GALE	Deletion (intron variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2829874	NM_001008216.2(GALE):c.735G>C (p.Val245=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2829422	NM_001008216.2(GALE):c.399C>G (p.Ala133=)	GALE	Single nucleotide variant (synonymous variant)	UDPglucose-4-epimerase deficiency	GLikely benign
Select item 2822494	NM_001008216.2(GALE):c.196dup (p.Asp66fs)	GALE (D66fs)	Duplication (frameshift variant)	UDPglucose-4-epimerase deficiency	GPathogenic

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