ClinVar for MedGen (Select 163204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3013096	NM_194318.4(B3GLCT):c.71-5_71-4del	B3GLCT	Deletion (intron variant)	Peters plus syndrome	GLikely benign
Select item 3009767	NM_194318.4(B3GLCT):c.1338G>A (p.Pro446=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2901354	NM_194318.4(B3GLCT):c.1191C>T (p.Val397=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2899356	NM_194318.4(B3GLCT):c.1330-15C>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 2883234	NM_194318.4(B3GLCT):c.774G>A (p.Pro258=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2769974	NM_194318.4(B3GLCT):c.1185-6C>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 2765569	NM_194318.4(B3GLCT):c.1140C>T (p.Tyr380=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2759755	NM_194318.4(B3GLCT):c.1330-19CT[2]	B3GLCT	Microsatellite (intron variant)	Peters plus syndrome	GLikely benign
Select item 2742042	NM_194318.4(B3GLCT):c.738C>T (p.Asp246=)	B3GLCT	Single nucleotide variant (synonymous 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 2726347	NM_194318.4(B3GLCT):c.585A>G (p.Pro195=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2723504	NM_194318.4(B3GLCT):c.1330-18T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 2721645	NM_194318.4(B3GLCT):c.1206C>T (p.Ala402=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	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 2431467	NM_194318.4(B3GLCT):c.881_889del (p.Gln294_Ser296del)	B3GLCT	Deletion (inframe_deletion)	Peters plus syndrome	GUncertain significance
Select item 2427625	NC_000013.10:g.(?_31835063)_(31835239_?)del	B3GLCT	Deletion	Peters plus syndrome	GPathogenic
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 2415597	NM_194318.4(B3GLCT):c.384T>A (p.Ile128=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2199884	NM_194318.4(B3GLCT):c.1299C>A (p.Ile433=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2182611	NM_194318.4(B3GLCT):c.903T>C (p.Tyr301=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
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 2176078	NM_194318.4(B3GLCT):c.273G>A (p.Glu91=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2103571	NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)	B3GLCT, LOC130009514	Deletion (inframe_deletion)	Peters plus syndrome	GUncertain significance
Select item 2086103	NM_194318.4(B3GLCT):c.70+14G>A	B3GLCT, LOC130009514	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 2076573	NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter)	B3GLCT (Q339*)	Single nucleotide variant (nonsense)	Peters plus syndrome	GPathogenic
Select item 2070569	NM_194318.4(B3GLCT):c.120+10C>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 2063689	NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln)	B3GLCT (R445Q)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 2059668	NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn)	B3GLCT (D469N)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 2053762	NM_194318.4(B3GLCT):c.1221C>T (p.Leu407=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2045183	NM_194318.4(B3GLCT):c.705C>T (p.Thr235=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 2021658	NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr)	B3GLCT (H442Y)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 2020769	NM_194318.4(B3GLCT):c.851-1G>T	B3GLCT	Single nucleotide variant (splice acceptor variant)	Peters plus syndrome	GLikely pathogenic
Select item 1977735	NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe)	B3GLCT (I286F)	Single nucleotide variant (missense variant)	Peters plus syndrome +1 more	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 1696069	NM_194318.4(B3GLCT):c.1184+1G>A	B3GLCT	Single nucleotide variant (splice donor variant)	Peters plus syndrome	GLikely pathogenic
Select item 1667350	NM_194318.4(B3GLCT):c.596+10T>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1656184	NM_194318.4(B3GLCT):c.781-12del	B3GLCT	Deletion (intron variant)	Peters plus syndrome	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 1632780	NM_194318.4(B3GLCT):c.160+19T>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	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 1596136	NM_194318.4(B3GLCT):c.1404C>T (p.Ile468=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
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 1580027	NM_194318.4(B3GLCT):c.1065-19G>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1562326	NM_194318.4(B3GLCT):c.460-10del	B3GLCT	Deletion (intron variant)	Peters plus syndrome	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 1537256	NM_194318.4(B3GLCT):c.347+15C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GLikely benign
Select item 1514759	NC_000013.10:g.(?_31774222)_(31860976_?)dup	B3GLCT	Duplication	Peters plus syndrome	GUncertain significance
Select item 1507614	NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile)	B3GLCT (T235I)	Single nucleotide variant (missense variant)	Peters plus syndrome +1 more	GUncertain significance
Select item 1506744	NM_194318.4(B3GLCT):c.270+15C>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GUncertain significance
Select item 1504258	NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr)	B3GLCT, LOC130009514 (C6Y)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1493053	NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe)	B3GLCT, LOC130009514 (L10F)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1481707	NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly)	B3GLCT (E239G)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
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 1472733	NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter)	B3GLCT (Y449*)	Single nucleotide variant (nonsense)	Peters plus syndrome	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 1429072	NM_194318.4(B3GLCT):c.1330-3C>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GUncertain significance
Select item 1425495	NM_194318.4(B3GLCT):c.1064+5G>T	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GUncertain significance
Select item 1407570	NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly)	B3GLCT (D484G)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1394289	NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg)	B3GLCT (Q457R)	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 1371999	NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu)	B3GLCT (P112L)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1369152	NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val)	B3GLCT (I286V)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1350915	NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val)	B3GLCT (L440V)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1346186	NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala)	B3GLCT (P232A)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1335808	NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter)	B3GLCT (Y380*)	Single nucleotide variant (nonsense)	B3GLCT-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1324051	NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs)	B3GLCT (K34fs)	Microsatellite (frameshift variant)	Peters plus syndrome	GPathogenic
Select item 1228388	NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter)	B3GLCT (Y389*)	Single nucleotide variant (nonsense)	Peters plus syndrome	GPathogenic
Select item 1192491	NM_194318.4(B3GLCT):c.850+151A>G	B3GLCT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192490	NM_194318.4(B3GLCT):c.850+81G>A	B3GLCT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192419	NM_194318.4(B3GLCT):c.781-34_781-31dup	B3GLCT	Duplication (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 1192418	NM_194318.4(B3GLCT):c.781-125G>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 1192417	NM_194318.4(B3GLCT):c.780+58A>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 1192416	NM_194318.4(B3GLCT):c.597-23del	B3GLCT	Deletion (intron variant)	Peters plus syndrome +1 more	GBenign
Select item 1192415	NM_194318.4(B3GLCT):c.121-120G>C	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome +1 more	GBenign
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 1140929	NM_194318.4(B3GLCT):c.1173G>A (p.Thr391=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GLikely benign
Select item 1061055	NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly)	B3GLCT (E496G)	Single nucleotide variant (missense variant)	Peters plus syndrome	GUncertain significance
Select item 1031787	NM_194318.4(B3GLCT):c.1372G>A (p.Val458Ile)	B3GLCT (V458I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 988082	NM_194318.4(B3GLCT):c.1184+3A>G	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	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 883948	NM_194318.4(B3GLCT):c.*2101T>C	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883947	NM_194318.4(B3GLCT):c.*2082G>T	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883946	NM_194318.4(B3GLCT):c.*2067A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883945	NM_194318.4(B3GLCT):c.*1870A>C	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883944	NM_194318.4(B3GLCT):c.*1836G>A	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883943	NM_194318.4(B3GLCT):c.*1801A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883942	NM_194318.4(B3GLCT):c.*1752C>T	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883941	NM_194318.4(B3GLCT):c.*1719A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883879	NM_194318.4(B3GLCT):c.*637A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GBenign
Select item 883878	NM_194318.4(B3GLCT):c.*624G>A	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883877	NM_194318.4(B3GLCT):c.*522G>A	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883876	NM_194318.4(B3GLCT):c.*510A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883875	NM_194318.4(B3GLCT):c.*439T>C	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GLikely benign
Select item 883874	NM_194318.4(B3GLCT):c.*410A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883873	NM_194318.4(B3GLCT):c.*406A>G	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883872	NM_194318.4(B3GLCT):c.*403T>A	B3GLCT	Single nucleotide variant (3 prime UTR variant)	Peters plus syndrome	GUncertain significance
Select item 883808	NM_194318.4(B3GLCT):c.850+11G>A	B3GLCT	Single nucleotide variant (intron variant)	Peters plus syndrome	GConflicting classifications of pathogenicity
Select item 883807	NM_194318.4(B3GLCT):c.786G>A (p.Lys262=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GUncertain significance
Select item 883806	NM_194318.4(B3GLCT):c.756A>G (p.Thr252=)	B3GLCT	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GUncertain significance

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