B3GLCT[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1227558	NM_194318.4(B3GLCT):c.71-6_71-5del	B3GLCT	Deletion (intron variant)	not provided	GBenign
Select item 166716	NM_194318.4(B3GLCT):c.71-5del	B3GLCT	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 434473	NM_194318.4(B3GLCT):c.71-9T>C	B3GLCT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3013096	NM_194318.4(B3GLCT):c.71-5_71-4del	B3GLCT	Deletion (intron variant)	Peters plus syndrome	GLikely benign
Select item 2741660	NM_194318.4(B3GLCT):c.71-1G>T	B3GLCT	Single nucleotide variant (splice acceptor variant)	Peters plus syndrome	GLikely pathogenic
Select item 881859	NM_194318.4(B3GLCT):c.87T>A (p.Ser29=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GUncertain significance
Select item 2299083	NM_194318.4(B3GLCT):c.95C>A (p.Thr32Lys)	B3GLCT (T32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324051	NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs)	B3GLCT (K34fs)	Microsatellite (frameshift variant)	Peters plus syndrome	GPathogenic
Select item 883024	NM_194318.4(B3GLCT):c.105G>A (p.Glu35=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GUncertain significance
Select item 2205967	NM_194318.4(B3GLCT):c.113A>G (p.Gln38Arg)	B3GLCT (Q38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288858	NM_194318.4(B3GLCT):c.114G>C (p.Gln38His)	B3GLCT (Q38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070569	NM_194318.4(B3GLCT):c.120+10C>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1192415	NM_194318.4(B3GLCT):c.121-120G>C	B3GLCT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1240912	NM_194318.4(B3GLCT):c.121-83A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2525261	NM_194318.4(B3GLCT):c.121G>C (p.Asp41His)	B3GLCT (D41H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 835356	NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys)	B3GLCT (E43K)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 843027	NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp)	B3GLCT (E43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1632780	NM_194318.4(B3GLCT):c.160+19T>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 197391	NM_194318.4(B3GLCT):c.161-8dup	B3GLCT	Duplication (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 767067	NM_194318.4(B3GLCT):c.161-7G>T	B3GLCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718343	NM_194318.4(B3GLCT):c.161-1G>T	B3GLCT	Single nucleotide variant (splice acceptor variant)	Peters plus syndrome	GLikely pathogenic
Select item 1147169	NM_194318.4(B3GLCT):c.170G>C (p.Gly57Ala)	B3GLCT (G57A)	Single nucleotide variant (missense variant)	Peters plus syndrome	GLikely benign
Select item 2400236	NM_194318.4(B3GLCT):c.172A>G (p.Ile58Val)	B3GLCT (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767428	NM_194318.4(B3GLCT):c.180C>T (p.Phe60=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +1 more	GLikely benign
Select item 497890	NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile)	B3GLCT (V61I)	Single nucleotide variant (missense variant)	Peters plus syndrome +2 more	GUncertain significance
Select item 197392	NM_194318.4(B3GLCT):c.190A>G (p.Ser64Gly)	B3GLCT (S64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267	NM_194318.4(B3GLCT):c.230dup (p.Leu77fs)	B3GLCT (L77fs)	Duplication (frameshift variant)	Peters plus syndrome	GPathogenic
Select item 817468	NM_194318.4(B3GLCT):c.238dup (p.Ser80fs)	B3GLCT (S80fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 725430	NM_194318.4(B3GLCT):c.231A>G (p.Leu77=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394451	NM_194318.4(B3GLCT):c.239G>A (p.Ser80Asn)	B3GLCT (S80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464554	NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser)	B3GLCT (A86S)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 766927	NM_194318.4(B3GLCT):c.264T>C (p.Leu88=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +1 more	GConflicting classifications of pathogenicity
Select item 883025	NM_194318.4(B3GLCT):c.270+4C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GUncertain significance
Select item 760277	NM_194318.4(B3GLCT):c.270+9C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1506744	NM_194318.4(B3GLCT):c.270+15C>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GUncertain significance
Select item 162173	NM_194318.4(B3GLCT):c.271-1835T>C	B3GLCT	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1186394	NM_194318.4(B3GLCT):c.271-209A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277294	NM_194318.4(B3GLCT):c.271-67T>C	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219127	NM_194318.4(B3GLCT):c.271-38C>T	B3GLCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 96625	NM_194318.4(B3GLCT):c.271-12T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +2 more	GBenign/Likely benign
Select item 425024	NM_194318.4(B3GLCT):c.271-8T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2176078	NM_194318.4(B3GLCT):c.273G>A (p.Glu91=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 497996	NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2418377	NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe)	B3GLCT (L97F)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 3067718	NM_194318.4(B3GLCT):c.291C>A (p.Leu97=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559505	NM_194318.4(B3GLCT):c.297T>C (p.His99=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 742031	NM_194318.4(B3GLCT):c.315A>G (p.Glu105=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GBenign
Select item 3132559	NM_194318.4(B3GLCT):c.320C>G (p.Ala107Gly)	B3GLCT (A107G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1210066	NM_194318.4(B3GLCT):c.335del (p.Pro112fs)	B3GLCT (P112fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1371999	NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu)	B3GLCT (P112L)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1589836	NM_194318.4(B3GLCT):c.336G>A (p.Pro112=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 883026	NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu)	B3GLCT (P115L)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 96627	NM_194318.4(B3GLCT):c.347+4C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +2 more	GBenign
Select item 1265	NM_194318.4(B3GLCT):c.347+5G>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GPathogenic
Select item 1537256	NM_194318.4(B3GLCT):c.347+15C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 96626	NM_194318.4(B3GLCT):c.347+20C>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +2 more	GBenign
Select item 1194311	NM_194318.4(B3GLCT):c.347+95A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187763	NM_194318.4(B3GLCT):c.347+199dup	B3GLCT	Duplication (intron variant)	not provided	GLikely benign
Select item 1182601	NM_194318.4(B3GLCT):c.347+233A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283494	NM_194318.4(B3GLCT):c.347+269A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1646961	NM_194318.4(B3GLCT):c.348-8T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 96628	NM_194318.4(B3GLCT):c.348T>C (p.His116=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome +2 more	GBenign
Select item 2415597	NM_194318.4(B3GLCT):c.384T>A (p.Ile128=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 883805	NM_194318.4(B3GLCT):c.421A>G (p.Lys141Glu)	B3GLCT (K141E)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 2179436	NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile)	B3GLCT (T145I)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 599463	NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu)	B3GLCT (D150E)	Single nucleotide variant (missense variant)	Peters plus syndrome +2 more	GBenign/Likely benign
Select item 449340	NM_194318.4(B3GLCT):c.459+1G>A	B3GLCT	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1286179	NM_194318.4(B3GLCT):c.460-72T>C	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1562326	NM_194318.4(B3GLCT):c.460-10del	B3GLCT	Deletion (intron variant)	Peters plus syndrome	GLikely benign
Select item 707049	NM_194318.4(B3GLCT):c.460-8T>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1801044	NM_194318.4(B3GLCT):c.463T>C (p.Trp155Arg)	B3GLCT (W155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 948813	NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile)	B3GLCT (F156I)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1896111	NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr)	B3GLCT (A166T)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1391242	NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met)	B3GLCT (I168M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3132561	NM_194318.4(B3GLCT):c.511C>T (p.His171Tyr)	B3GLCT (H171Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726206	NM_194318.4(B3GLCT):c.519C>G (p.Ala173=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643716	NM_194318.4(B3GLCT):c.525C>T (p.Ser175=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608051	NM_194318.4(B3GLCT):c.537A>C (p.Thr179=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 3065313	NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)	B3GLCT (S193N)	Single nucleotide variant (missense variant)	Peters plus syndrome	GLikely pathogenic
Select item 2726347	NM_194318.4(B3GLCT):c.585A>G (p.Pro195=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 1667350	NM_194318.4(B3GLCT):c.596+10T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1291733	NM_194318.4(B3GLCT):c.596+50del	B3GLCT	Deletion (intron variant)	not provided	GBenign
Select item 1278649	NM_194318.4(B3GLCT):c.596+156G>A	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192416	NM_194318.4(B3GLCT):c.597-23del	B3GLCT	Deletion (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 2280572	NM_194318.4(B3GLCT):c.621A>T (p.Glu207Asp)	B3GLCT (E207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 434474	NM_194318.4(B3GLCT):c.643A>G (p.Ile215Val)	B3GLCT (I215V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1264	NM_194318.4(B3GLCT):c.660+1G>A	B3GLCT	Single nucleotide variant (splice donor variant)	Peters plus syndrome +1 more	GPathogenic
Select item 1287268	NM_194318.4(B3GLCT):c.660+83A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229686	NM_194318.4(B3GLCT):c.660+184A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293831	NM_194318.4(B3GLCT):c.660+212A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183301	NM_194318.4(B3GLCT):c.660+250A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278886	NM_194318.4(B3GLCT):c.661-263A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207011	NM_194318.4(B3GLCT):c.661-248G>A	B3GLCT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244505	NM_194318.4(B3GLCT):c.661-111G>A	B3GLCT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763020	NM_194318.4(B3GLCT):c.661-7G>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 732839	NM_194318.4(B3GLCT):c.661-7G>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 96629	NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1476032	NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val)	B3GLCT (I225V)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 3365034	NM_194318.4(B3GLCT):c.686G>A (p.Gly229Asp)	B3GLCT (G229D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3258786	NM_194318.4(B3GLCT):c.686G>T (p.Gly229Val)	B3GLCT (G229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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