ClinVar for Gene (Select 145173) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3132563	NM_194318.4(B3GLCT):c.874G>A (p.Glu292Lys)	B3GLCT (E292K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132562	NM_194318.4(B3GLCT):c.803A>G (p.Asp268Gly)	B3GLCT (D268G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3132560	NM_194318.4(B3GLCT):c.32C>A (p.Ala11Glu)	B3GLCT, LOC130009514 (A11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3132557	NM_194318.4(B3GLCT):c.1130G>A (p.Arg377His)	B3GLCT (R377H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3065313	NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)	B3GLCT (S193N)	Single nucleotide variant (missense variant)	Peters plus syndrome	GLikely pathogenic
Select item 3054818	NM_194318.4(B3GLCT):c.1053T>C (p.Asp351=)	B3GLCT	Single nucleotide variant (synonymous variant)	B3GLCT-related disorder	GLikely benign
Select item 3024580	GRCh37/hg19 13q12.3-13.1(chr13:29933399-32792968)x3	ALOX5AP, B3GLCT +12 more	Copy number gain	not provided	GUncertain significance
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 2684698	GRCh37/hg19 13q12.3(chr13:31607186-31786055)x3	B3GLCT, HSPH1	Copy number gain	not provided	GUncertain significance
Select item 2643718	NM_194318.4(B3GLCT):c.1302T>C (p.Pro434=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643717	NM_194318.4(B3GLCT):c.1194C>T (p.Phe398=)	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 2636093	NM_194318.4(B3GLCT):c.1390A>C (p.Lys464Gln)	B3GLCT (K464Q)	Single nucleotide variant (missense variant)	B3GLCT-related disorder	GUncertain significance
Select item 2594582	NM_194318.4(B3GLCT):c.1323C>G (p.Phe441Leu)	B3GLCT (F441L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2498576	NM_194318.4(B3GLCT):c.732C>T (p.Asp244=)	B3GLCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489857	NM_194318.4(B3GLCT):c.712C>T (p.Pro238Ser)	B3GLCT (P238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
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 2400236	NM_194318.4(B3GLCT):c.172A>G (p.Ile58Val)	B3GLCT (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2379740	NM_194318.4(B3GLCT):c.743A>C (p.Tyr248Ser)	B3GLCT (Y248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338889	NM_194318.4(B3GLCT):c.938A>T (p.Asp313Val)	B3GLCT (D313V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333833	NM_194318.4(B3GLCT):c.688G>A (p.Gly230Arg)	B3GLCT (G230R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331842	NM_194318.4(B3GLCT):c.61T>G (p.Cys21Gly)	B3GLCT, LOC130009514 (C21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2292477	NM_194318.4(B3GLCT):c.1258G>A (p.Asp420Asn)	B3GLCT (D420N)	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 2280572	NM_194318.4(B3GLCT):c.621A>T (p.Glu207Asp)	B3GLCT (E207D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261105	NM_194318.4(B3GLCT):c.799A>G (p.Lys267Glu)	B3GLCT (K267E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2228321	NM_194318.4(B3GLCT):c.1172C>T (p.Thr391Met)	B3GLCT (T391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226956	NM_194318.4(B3GLCT):c.1235G>A (p.Arg412Gln)	B3GLCT (R412Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	KL, MAB21L1 +12 more	Copy number gain	not provided	Gnot provided
Select item 1804394	NM_194318.4(B3GLCT):c.1483C>T (p.Arg495Ter)	B3GLCT (R495*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
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 1694697	NM_194318.4(B3GLCT):c.42G>A (p.Ala14=)	B3GLCT, LOC130009514	Single nucleotide variant (synonymous variant)	not provided	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 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 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
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

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