ClinVar for MedGen (Select 323005) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019854	NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)	ST3GAL5 (Q113* +2 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency	GPathogenic
Select item 3019701	NM_003896.4(ST3GAL5):c.83-19T>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 3018654	NM_003896.4(ST3GAL5):c.206+13C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 3014007	NM_003896.4(ST3GAL5):c.206+18G>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 3013904	NM_003896.4(ST3GAL5):c.1009-19C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 3013697	NM_003896.4(ST3GAL5):c.51G>A (p.Arg17=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 3007425	NM_003896.4(ST3GAL5):c.333T>C (p.Tyr111=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2980230	NM_003896.4(ST3GAL5):c.849+17C>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2971469	NM_003896.4(ST3GAL5):c.141G>A (p.Leu47=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2966198	NM_003896.4(ST3GAL5):c.750G>A (p.Leu250=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2958786	NM_003896.4(ST3GAL5):c.82+7G>A	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2957643	NM_003896.4(ST3GAL5):c.264T>C (p.Thr88=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2917832	NM_003896.4(ST3GAL5):c.378G>A (p.Lys126=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2916571	NM_003896.4(ST3GAL5):c.662+17del	ST3GAL5	Deletion (intron variant)	GM3 synthase deficiency	GBenign
Select item 2914016	NM_003896.4(ST3GAL5):c.207-5del	ST3GAL5, LOC129934233	Deletion (intron variant)	GM3 synthase deficiency	GBenign
Select item 2913977	NM_003896.4(ST3GAL5):c.83-14G>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2909782	NM_003896.4(ST3GAL5):c.951T>C (p.Thr317=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2907771	NM_003896.4(ST3GAL5):c.582C>T (p.Arg194=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2902087	NM_003896.4(ST3GAL5):c.662+16T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2897105	NM_003896.4(ST3GAL5):c.717T>G (p.Thr239=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2896111	NM_003896.4(ST3GAL5):c.447C>T (p.Pro149=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2887009	NM_003896.4(ST3GAL5):c.154C>T (p.Arg52Ter)	ST3GAL5 (R29* +2 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2884611	NM_003896.4(ST3GAL5):c.132G>A (p.Arg44=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2873426	NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)	ST3GAL5 (R206fs +4 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2872358	NM_003896.4(ST3GAL5):c.834A>G (p.Val278=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2869467	NM_003896.4(ST3GAL5):c.1009-17T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2865496	NM_003896.4(ST3GAL5):c.1194C>T (p.Leu398=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2865354	NM_003896.4(ST3GAL5):c.318+12del	ST3GAL5	Deletion (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2864810	NM_003896.4(ST3GAL5):c.83-20C>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2864144	NM_003896.4(ST3GAL5):c.1203G>A (p.Leu401=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2862477	NM_003896.4(ST3GAL5):c.206+10G>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2862379	NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2858541	NM_003896.4(ST3GAL5):c.180C>T (p.Pro60=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2855467	NM_003896.4(ST3GAL5):c.1009-19C>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2852780	NM_003896.4(ST3GAL5):c.83-14G>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2847221	NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)	ST3GAL5 (R206fs +4 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2846276	NM_003896.4(ST3GAL5):c.206+14C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2841854	NM_003896.4(ST3GAL5):c.24C>T (p.Cys8=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2840300	NM_003896.4(ST3GAL5):c.318+19G>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2838130	NM_003896.4(ST3GAL5):c.207-11T>A	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2837826	NM_003896.4(ST3GAL5):c.207-11T>C	LOC129934233, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2836605	NM_003896.4(ST3GAL5):c.435G>A (p.Val145=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2835221	NM_003896.4(ST3GAL5):c.1008+15A>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2831897	NM_003896.4(ST3GAL5):c.206+9C>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2831254	NM_003896.4(ST3GAL5):c.15G>C (p.Ala5=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2823516	NM_003896.4(ST3GAL5):c.83-16T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2817532	NM_003896.4(ST3GAL5):c.662+13T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2817013	NM_003896.4(ST3GAL5):c.39C>T (p.Pro13=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2812534	NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)	LOC129934236, ST3GAL5 (A22fs)	Deletion (5 prime UTR variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2811489	NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)	LOC129934236, ST3GAL5 (P16fs)	Deletion (5 prime UTR variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2811323	NM_003896.4(ST3GAL5):c.663-6A>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2806145	NM_003896.4(ST3GAL5):c.662+2T>C	ST3GAL5	Single nucleotide variant (splice donor variant)	GM3 synthase deficiency	GLikely pathogenic
Select item 2806138	NM_003896.4(ST3GAL5):c.663-1G>A	ST3GAL5	Single nucleotide variant (splice acceptor variant)	GM3 synthase deficiency	GLikely pathogenic
Select item 2804576	NM_003896.4(ST3GAL5):c.513C>G (p.Val171=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2801433	NM_003896.4(ST3GAL5):c.1008+9G>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2800048	NM_003896.4(ST3GAL5):c.1008+1G>A	ST3GAL5	Single nucleotide variant (splice donor variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2799674	NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)	ST3GAL5 (I271fs +4 more)	Duplication (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2798556	NM_003896.4(ST3GAL5):c.1134A>G (p.Gln378=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2796960	NM_003896.4(ST3GAL5):c.6G>A (p.Arg2=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2793672	NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)	ST3GAL5 (L113* +3 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2793387	NM_003896.4(ST3GAL5):c.82+7G>T	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2793063	NM_003896.4(ST3GAL5):c.1008+16C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2792043	NM_003896.4(ST3GAL5):c.471G>A (p.Lys157=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2789458	NM_003896.4(ST3GAL5):c.318+10C>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2789310	NM_003896.4(ST3GAL5):c.82+7G>C	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2786197	NM_003896.4(ST3GAL5):c.999C>T (p.Gly333=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2785190	NM_003896.4(ST3GAL5):c.792T>C (p.Val264=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2784818	NM_003896.4(ST3GAL5):c.690T>C (p.Tyr230=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2780323	NM_003896.4(ST3GAL5):c.82+10dup	LOC129934236, ST3GAL5	Duplication (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2778461	NM_003896.4(ST3GAL5):c.432T>C (p.Phe144=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2777555	NM_003896.4(ST3GAL5):c.519C>T (p.Thr173=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2772718	NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)	ST3GAL5 (A102fs +2 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2770576	NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)	ST3GAL5 (C97fs +2 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2768802	NM_003896.4(ST3GAL5):c.600C>T (p.Ser200=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2767666	NM_003896.4(ST3GAL5):c.206+15del	ST3GAL5	Deletion (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2765533	NM_003896.4(ST3GAL5):c.82+20C>G	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2765435	NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)	LOC129934236, ST3GAL5 (L14fs)	Duplication (5 prime UTR variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2765009	NM_003896.4(ST3GAL5):c.1206C>G (p.Val402=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2763923	NM_003896.4(ST3GAL5):c.480T>C (p.Pro160=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2758193	NM_003896.4(ST3GAL5):c.318+17del	ST3GAL5	Deletion (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2753728	NM_003896.4(ST3GAL5):c.369G>A (p.Lys123=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2748014	NM_003896.4(ST3GAL5):c.1110A>G (p.Thr370=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2746379	NM_003896.4(ST3GAL5):c.346T>C (p.Leu116=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2740534	NM_003896.4(ST3GAL5):c.573C>A (p.Thr191=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2737045	NM_003896.4(ST3GAL5):c.662+12T>C	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2736988	NM_003896.4(ST3GAL5):c.246C>A (p.Ile82=)	ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2732879	NM_003896.4(ST3GAL5):c.271G>T (p.Glu91Ter)	ST3GAL5 (E91* +2 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2732764	NM_003896.4(ST3GAL5):c.206+16G>A	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2725827	NM_003896.4(ST3GAL5):c.732T>C (p.Tyr244=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2723499	NM_003896.4(ST3GAL5):c.662+18G>T	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2721040	NM_003896.4(ST3GAL5):c.82+10G>T	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2720485	NM_003896.4(ST3GAL5):c.82+15C>A	LOC129934236, ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2718096	NM_003896.4(ST3GAL5):c.1195T>C (p.Leu399=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2714495	NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)	ST3GAL5 (M69fs +2 more)	Duplication (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2708284	NM_003896.4(ST3GAL5):c.1101A>G (p.Gln367=)	ST3GAL5	Single nucleotide variant (synonymous variant)	GM3 synthase deficiency	GLikely benign
Select item 2705503	NM_003896.4(ST3GAL5):c.1009-4T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GLikely benign
Select item 2703487	NM_003896.4(ST3GAL5):c.719T>A (p.Ile240Lys)	ST3GAL5 (I112K +3 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 2699279	NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)	LOC129934236, ST3GAL5 (K4*)	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GPathogenic
Select item 2697131	NM_003896.4(ST3GAL5):c.105T>C (p.Tyr35=)	ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 2694522	NM_003896.4(ST3GAL5):c.9G>A (p.Thr3=)	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GLikely benign

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