ClinVar for MedGen (Select 120614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018892	NM_000154.2(GALK1):c.611+15C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3018678	NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)	GALK1 (S33*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 3017490	NM_000154.2(GALK1):c.276G>A (p.Leu92=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 3014043	NM_000154.2(GALK1):c.794-12T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3002052	NM_000154.2(GALK1):c.612-17T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 3001049	NM_000154.2(GALK1):c.1108-17C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2998251	NM_000154.2(GALK1):c.611+11C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2998143	NM_000154.2(GALK1):c.84C>T (p.Pro28=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2994128	NM_000154.2(GALK1):c.756G>A (p.Lys252=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2985602	NM_000154.2(GALK1):c.944+20C>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2966990	NM_000154.2(GALK1):c.801G>A (p.Arg267=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2962678	NM_000154.2(GALK1):c.21C>A (p.Pro7=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2959535	NM_000154.2(GALK1):c.708C>T (p.Tyr236=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2958065	NM_000154.2(GALK1):c.1107+12C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2916945	NM_000154.2(GALK1):c.355+11C>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2916614	NM_000154.2(GALK1):c.944+17G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2915710	NM_000154.2(GALK1):c.450C>T (p.Tyr150=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2915296	NM_000154.2(GALK1):c.355+14G>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2915074	NM_000154.2(GALK1):c.945-20C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2908939	NM_000154.2(GALK1):c.715C>A (p.Arg239=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2907142	NM_000154.2(GALK1):c.1107+18C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2894159	NM_000154.2(GALK1):c.849G>A (p.Gly283=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2893870	NM_000154.2(GALK1):c.681C>T (p.Val227=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2890383	NM_000154.2(GALK1):c.1108-11G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2889837	NM_000154.2(GALK1):c.611+15C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2889650	NM_000154.2(GALK1):c.294G>A (p.Ser98=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2888331	NM_000154.2(GALK1):c.202dup (p.Arg68fs)	GALK1 (R68fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2885503	NM_000154.2(GALK1):c.294G>C (p.Ser98=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2883747	NM_000154.2(GALK1):c.1108-15G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2883146	NM_000154.2(GALK1):c.1108-18C>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2874223	NM_000154.2(GALK1):c.399G>A (p.Val133=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2874036	NM_000154.2(GALK1):c.476-17C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2872006	NM_000154.2(GALK1):c.1108-17C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2871768	NM_000154.2(GALK1):c.1113C>T (p.His371=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2870665	NM_000154.2(GALK1):c.1092C>G (p.Ala364=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2866621	NM_000154.2(GALK1):c.162T>G (p.Pro54=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2866058	NM_000154.2(GALK1):c.355+8G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2864569	NM_000154.2(GALK1):c.420C>T (p.Ser140=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2863506	NM_000154.2(GALK1):c.114C>T (p.Val38=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2862465	NM_000154.2(GALK1):c.476-8_476-4del	GALK1	Deletion (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2861880	NM_000154.2(GALK1):c.166-12C>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2857057	NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)	GALK1 (Q369*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 2854495	NM_000154.2(GALK1):c.356-20A>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2850617	NM_000154.2(GALK1):c.657C>G (p.Ala219=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2850402	NM_000154.2(GALK1):c.1140C>G (p.Leu380=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2849688	NM_000154.2(GALK1):c.206dup (p.Asp70fs)	GALK1 (D70fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2849058	NM_000154.2(GALK1):c.465G>A (p.Gln155=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2847203	NM_000154.2(GALK1):c.471T>C (p.Cys157=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2841555	NM_000154.2(GALK1):c.1A>T (p.Met1Leu)	GALK1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of galactokinase	GPathogenic
Select item 2841107	NM_000154.2(GALK1):c.476-10T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2840130	NM_000154.2(GALK1):c.912C>T (p.Gly304=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2835962	NM_000154.2(GALK1):c.165+11G>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2835961	NM_000154.2(GALK1):c.165+13A>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2835960	NM_000154.2(GALK1):c.165+14C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2835831	NM_000154.2(GALK1):c.807G>C (p.Leu269=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2829308	NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)	GALK1 (Y318*)	Single nucleotide variant (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 2827262	NM_000154.2(GALK1):c.69G>A (p.Glu23=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2824234	NM_000154.2(GALK1):c.501C>T (p.Ala167=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2822812	NM_000154.2(GALK1):c.327dup (p.Val110fs)	GALK1 (V110fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2817088	NM_000154.2(GALK1):c.781del (p.Glu261fs)	GALK1 (E261fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2808087	NM_000154.2(GALK1):c.165+20G>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2807348	NM_000154.2(GALK1):c.860_881del (p.Arg287fs)	GALK1 (R287fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2807146	NM_000154.2(GALK1):c.183G>C (p.Thr61=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2806678	NM_000154.2(GALK1):c.355+8G>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2799896	NM_000154.2(GALK1):c.165+8dup	GALK1	Duplication (intron variant)	Deficiency of galactokinase	GBenign
Select item 2798007	NM_000154.2(GALK1):c.612-18A>G	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2797437	NM_000154.2(GALK1):c.611+19G>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2795693	NM_000154.2(GALK1):c.945-14T>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2786386	NM_000154.2(GALK1):c.486A>G (p.Thr162=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2784717	NM_000154.2(GALK1):c.57C>T (p.Ala19=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2778157	NM_000154.2(GALK1):c.204C>G (p.Arg68=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2772896	NM_000154.2(GALK1):c.918C>T (p.Leu306=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2769183	NM_000154.2(GALK1):c.135G>A (p.Thr45=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2768657	NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)	GALK1 (E29fs)	Duplication (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2767409	NM_000154.2(GALK1):c.486A>T (p.Thr162=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2766647	NM_000154.2(GALK1):c.166-8C>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2762895	NM_000154.2(GALK1):c.691C>T (p.Leu231=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2761195	NM_000154.2(GALK1):c.1168C>T (p.Leu390=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2760551	NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)	GALK1	Deletion (nonsense)	Deficiency of galactokinase	GPathogenic
Select item 2758477	NM_000154.2(GALK1):c.476-17dup	GALK1	Duplication (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2758447	NM_000154.2(GALK1):c.264G>A (p.Leu88=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2755014	NM_000154.2(GALK1):c.165+15G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2752828	NM_000154.2(GALK1):c.153G>A (p.Leu51=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2752591	NM_000154.2(GALK1):c.204C>T (p.Arg68=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2743495	NM_000154.2(GALK1):c.1108-19C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2737087	NM_000154.2(GALK1):c.475+14C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2736655	NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)	GALK1 (L139P)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GPathogenic
Select item 2735989	NM_000154.2(GALK1):c.18G>A (p.Gln6=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2735508	NM_000154.2(GALK1):c.355+7G>C	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2733708	NM_000154.2(GALK1):c.944+16C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2729614	NM_000154.2(GALK1):c.793+15G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2728046	NM_000154.2(GALK1):c.793+19C>T	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2727681	NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)	GALK1 (T352fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GPathogenic
Select item 2726464	NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)	GALK1 (G136R)	Single nucleotide variant (missense variant)	Deficiency of galactokinase	GUncertain significance
Select item 2725173	NM_000154.2(GALK1):c.834C>T (p.Ala278=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2724583	NM_000154.2(GALK1):c.1A>G (p.Met1Val)	GALK1 (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of galactokinase	GPathogenic
Select item 2722500	NM_000154.2(GALK1):c.171G>C (p.Leu57=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign
Select item 2719722	NM_000154.2(GALK1):c.612-1G>T	GALK1	Single nucleotide variant (splice acceptor variant)	Deficiency of galactokinase	GLikely pathogenic
Select item 2712407	NM_000154.2(GALK1):c.611+19G>A	GALK1	Single nucleotide variant (intron variant)	Deficiency of galactokinase	GLikely benign
Select item 2706510	NM_000154.2(GALK1):c.741C>T (p.Ala247=)	GALK1	Single nucleotide variant (synonymous variant)	Deficiency of galactokinase	GLikely benign

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