ClinVar for Gene (Select 2592) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366320	NM_000155.4(GALT):c.308A>G (p.Gln103Arg)	GALT	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341391	NM_000155.4(GALT):c.794del (p.Pro265fs)	GALT (P156fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3339258	NM_000155.4(GALT):c.252+6C>T	GALT, LOC130001683	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3251887	NM_000155.4(GALT):c.769C>T (p.Pro257Ser)	GALT (P148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245107	NC_000009.11:g.(?_34649002)_(34650433_?)del	GALT	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3245106	NC_000009.11:g.(?_34648999)_(34650430_?)del	GALT	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 3245105	NC_000009.11:g.(?_34646573)_(34649581_?)del	GALT	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 3245104	NC_000009.11:g.(?_34645662)_(34651235_?)del	GALT	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3241677	NM_000155.4(GALT):c.252+2T>C	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3241676	NM_000155.4(GALT):c.921dup (p.Glu308fs)	GALT (E199fs +1 more)	Duplication (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3241675	NM_000155.4(GALT):c.821-1G>A	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3241674	NM_000155.4(GALT):c.1098C>G (p.Tyr366Ter)	GALT (Y257* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3241673	NM_000155.4(GALT):c.28C>T (p.Gln10Ter)	GALT (Q10*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3233768	NM_000155.4(GALT):c.554C>G (p.Pro185Arg)	GALT (P185R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064714	NM_000155.4(GALT):c.253-1G>A	GALT	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3064530	NM_000155.4(GALT):c.377+26A>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 3064366	NM_000155.4(GALT):c.127_130del (p.Leu43fs)	GALT, LOC130001683 (L43fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3058552	NM_000155.4(GALT):c.*5G>A	GALT	Single nucleotide variant (3 prime UTR variant)	GALT-related disorder	GLikely benign
Select item 3034273	NM_000155.4(GALT):c.508-37C>T	GALT	Single nucleotide variant (intron variant)	GALT-related disorder	GLikely benign
Select item 3021006	NM_000155.4(GALT):c.508-17G>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 3020025	NM_000155.4(GALT):c.804C>T (p.Thr268=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 3014445	NM_000155.4(GALT):c.424A>C (p.Met142Leu)	GALT (M142L +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3013407	NM_000155.4(GALT):c.1060-4C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 3006503	NM_000155.4(GALT):c.987T>C (p.Ser329=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2996127	NM_000155.4(GALT):c.377+12T>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2995386	NM_000155.4(GALT):c.318C>T (p.Ala106=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2989881	NM_000155.4(GALT):c.83-14C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2989871	NM_000155.4(GALT):c.252+8T>C	GALT, LOC130001683	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2989311	NM_000155.4(GALT):c.835A>G (p.Met279Val)	GALT (M170V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2986270	NM_000155.4(GALT):c.82+20G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2983615	NM_000155.4(GALT):c.82+18G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2979207	NM_000155.4(GALT):c.1A>C (p.Met1Leu)	GALT (M1L)	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2978642	NM_000155.4(GALT):c.329-14C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2972630	NM_000155.4(GALT):c.896G>A (p.Gly299Asp)	GALT (G190D +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2972426	NM_000155.4(GALT):c.83-19C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2969925	NM_000155.4(GALT):c.329-20G>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2963491	NM_000155.4(GALT):c.252+13_252+14del	GALT, LOC130001683	Microsatellite (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2958532	NM_000155.4(GALT):c.883C>T (p.Pro295Ser)	GALT (P186S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2958242	NM_000155.4(GALT):c.688-20T>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2919313	NM_000155.4(GALT):c.253-16C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2919275	NM_000155.4(GALT):c.588A>G (p.Pro196=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2916610	NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)	GALT (T350S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2914958	NM_000155.4(GALT):c.82+17A>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2914895	NM_000155.4(GALT):c.508-19C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2913596	NM_000155.4(GALT):c.508-11C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2912971	NM_000155.4(GALT):c.821-20G>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2910717	NM_000155.4(GALT):c.668G>A (p.Arg223His)	GALT (R114H +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2910004	NM_000155.4(GALT):c.377+17C>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2909591	NM_000155.4(GALT):c.905-11_905-9del	GALT	Microsatellite (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2907389	NM_000155.4(GALT):c.460T>C (p.Trp154Arg)	GALT (W45R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2907370	NM_000155.4(GALT):c.904+15G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2905795	NM_000155.4(GALT):c.82+14G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2902346	NM_000155.4(GALT):c.508-18C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2902067	NM_000155.4(GALT):c.905-20G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2900207	NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)	GALT (E243Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2898655	NM_000155.4(GALT):c.1059+19C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2894600	NM_000155.4(GALT):c.687+16G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2893274	NM_000155.4(GALT):c.688-17C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2892111	NM_000155.4(GALT):c.328+13C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2891881	NM_000155.4(GALT):c.836T>G (p.Met279Arg)	GALT (M170R)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2890072	NM_000155.4(GALT):c.529A>G (p.Met177Val)	GALT (M68V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 2888964	NM_000155.4(GALT):c.507+13G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2880936	NM_000155.4(GALT):c.665G>A (p.Ser222Asn)	GALT (S113N +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2880770	NM_000155.4(GALT):c.1059+17G>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2877730	NM_000155.4(GALT):c.820+19A>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2877639	NM_000155.4(GALT):c.439A>G (p.Ile147Val)	GALT (I38V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2873182	NM_000155.4(GALT):c.666C>T (p.Ser222=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2872236	NM_000155.4(GALT):c.363T>G (p.Ser121=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2871310	NM_000155.4(GALT):c.681C>A (p.Leu227=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2866632	NM_000155.4(GALT):c.558C>T (p.His186=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2865362	NM_000155.4(GALT):c.688-7T>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2864377	NM_000155.4(GALT):c.564+14G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2860382	NM_000155.4(GALT):c.377+19T>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2857988	NM_000155.4(GALT):c.565-5G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2854356	NM_000155.4(GALT):c.1065A>G (p.Ala355=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2852051	NM_000155.4(GALT):c.507+10G>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2852041	NM_000155.4(GALT):c.627T>C (p.Tyr209=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2851649	NM_000155.4(GALT):c.687+19C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2847269	NM_000155.4(GALT):c.768G>T (p.Leu256=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2840958	NM_000155.4(GALT):c.1098C>T (p.Tyr366=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2840883	NM_000155.4(GALT):c.1131C>T (p.Thr377=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2840411	NM_000155.4(GALT):c.597C>G (p.Ala199=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2840309	NM_000155.4(GALT):c.971C>T (p.Pro324Leu)	GALT (P215L +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2839913	NM_000155.4(GALT):c.501G>A (p.Trp167Ter)	GALT (W167* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2839476	NM_000155.4(GALT):c.378-15C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2839457	NM_000155.4(GALT):c.586C>G (p.Pro196Ala)	GALT (P87A +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2837054	NM_000155.4(GALT):c.377+20C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2832372	NM_000155.4(GALT):c.329-9T>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2832258	NM_000155.4(GALT):c.565-9C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2829278	NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)	GALT (C187Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 2829252	NM_000155.4(GALT):c.1059+7A>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2828997	NM_000155.4(GALT):c.565-20C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2828701	NM_000155.4(GALT):c.83-7C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2827973	NM_000155.4(GALT):c.262dup (p.Gln88fs)	GALT (Q88fs)	Duplication (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2824889	NM_000155.4(GALT):c.1107G>A (p.Gly369=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2824112	NM_000155.4(GALT):c.717G>T (p.Trp239Cys)	GALT (W130C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2819534	NM_000155.4(GALT):c.253-6C>G	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance

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