145173[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	ALOX5AP, B3GLCT +117 more	Copy number loss	See cases	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +50 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	LOC126861732, LOC126861733 +213 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 145850	GRCh38/hg38 13q12.3(chr13:31155509-31284676)x3	B3GLCT, HSPH1 +4 more	Copy number gain	See cases	GLikely benign
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1199821	NC_000013.11:g.31199923A>G	B3GLCT, LOC130009514	Single nucleotide variant	not provided	GLikely benign
Select item 881857	NM_194318.4(B3GLCT):c.-36C>G	B3GLCT, LOC130009514	Single nucleotide variant (5 prime UTR 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 2103571	NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)	B3GLCT, LOC130009514	Deletion (inframe_deletion)	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 881858	NM_194318.4(B3GLCT):c.30C>T (p.Leu10=)	B3GLCT, LOC130009514	Single nucleotide variant (synonymous variant)	Peters plus syndrome	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 702634	NM_194318.4(B3GLCT):c.39G>C (p.Pro13=)	B3GLCT, LOC130009514	Single nucleotide variant (synonymous variant)	Peters plus syndrome	GConflicting classifications of pathogenicity
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 574845	NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro)	B3GLCT, LOC130009514 (L19P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 499751	NM_194318.4(B3GLCT):c.70+5G>A	B3GLCT, LOC130009514	Single nucleotide variant (intron variant)	not provided	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 1189165	NM_194318.4(B3GLCT):c.70+129C>G	B3GLCT, LOC130009514	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 +2 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)	Peters plus syndrome +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)	Peters plus syndrome +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)	not specified +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	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)	not provided +2 more	GBenign/Likely benign
Select item 425024	NM_194318.4(B3GLCT):c.271-8T>C	B3GLCT	Single nucleotide variant (intron variant)	not provided +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)	not provided +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 +1 more	GBenign/Likely benign
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)	not provided +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)	not specified +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)	not provided +2 more	GBenign

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