51082[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	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +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	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 1226247	NM_001206559.2(POLR1D):c.-59+555C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1283811	NM_001206559.2(POLR1D):c.-59+612G>A	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1238128	NM_015972.3(POLR1D):c.-149C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1246047	NM_015972.3(POLR1D):c.-110C>A	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1289980	NM_015972.3(POLR1D):c.-107C>T	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1244100	NM_015972.4(POLR1D):c.-88G>C	LOC130009445, POLR1D	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1600572	NM_015972.4(POLR1D):c.26+18G>A	LOC130009445, POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289199	NM_015972.4(POLR1D):c.26+58G>T	LOC130009445, POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244891	NM_015972.4(POLR1D):c.26+175A>G	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237916	NM_015972.4(POLR1D):c.26+252G>A	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223160	NM_015972.4(POLR1D):c.27-193G>C	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278842	NM_015972.4(POLR1D):c.27-180G>A	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211448	NM_015972.4(POLR1D):c.27-177A>T	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970333	NM_015972.4(POLR1D):c.27-19A>G	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950196	NM_015972.4(POLR1D):c.27-8G>A	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 432758	NM_015972.4(POLR1D):c.56C>T (p.Ala19Val)	POLR1D (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806833	NM_015972.4(POLR1D):c.60dup (p.Gly21fs)	POLR1D (G21fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GLikely pathogenic
Select item 3058432	NM_015972.4(POLR1D):c.66G>A (p.Glu22=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	POLR1D-related disorder	GLikely benign
Select item 31054	NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs)	POLR1D (Q31fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 1705417	NM_015972.4(POLR1D):c.89_117del (p.Val30fs)	POLR1D (V30fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GLikely pathogenic
Select item 2314982	NM_015972.4(POLR1D):c.97G>C (p.Ala33Pro)	POLR1D (A33P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 451304	NM_015972.4(POLR1D):c.99_144del (p.Gly34fs)	POLR1D (G34fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2702667	NM_015972.4(POLR1D):c.104C>T (p.Thr35Ile)	POLR1D (T35I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1458945	NM_015972.4(POLR1D):c.109dup (p.Arg37fs)	POLR1D (R37fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3032749	NM_015972.4(POLR1D):c.128dup (p.Leu44fs)	POLR1D (L44fs)	Duplication (frameshift variant +1 more)	POLR1D-related disorder	GLikely pathogenic
Select item 1963782	NM_015972.4(POLR1D):c.132G>T (p.Leu44Phe)	POLR1D (L44F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31050	NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys)	POLR1D (E47K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2530792	NM_015972.4(POLR1D):c.144C>G (p.Asp48Glu)	POLR1D (D48E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2632837	NM_015972.4(POLR1D):c.149C>T (p.Thr50Ile)	POLR1D (T50I)	Single nucleotide variant (missense variant +1 more)	POLR1D-related disorder	GUncertain significance
Select item 31051	NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg)	POLR1D (L51R)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 156464	NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)	POLR1D (L55V)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 1685030	NM_015972.4(POLR1D):c.166C>T (p.Arg56Cys)	POLR1D (R56C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 546551	NM_015972.4(POLR1D):c.170dup (p.Tyr57Ter)	POLR1D (Y57*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 596330	NM_015972.4(POLR1D):c.177C>T (p.Ile59=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1305575	NM_015972.4(POLR1D):c.186C>A (p.Asn62Lys)	POLR1D (N62K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1608890	NM_015972.4(POLR1D):c.189G>A (p.Pro63=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431348	NM_015972.4(POLR1D):c.206G>C (p.Gly69Ala)	POLR1D (G69A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1032714	NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)	POLR1D (T72A)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GUncertain significance
Select item 1960825	NM_015972.4(POLR1D):c.215C>T (p.Thr72Met)	POLR1D (T72M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886567	NM_015972.4(POLR1D):c.216G>A (p.Thr72=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009892	NM_015972.4(POLR1D):c.219C>A (p.Thr73=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1308865	NM_015972.4(POLR1D):c.224C>A (p.Pro75His)	POLR1D (P75H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943520	NM_015972.4(POLR1D):c.248G>A (p.Arg83His)	POLR1D (R83H)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1065077	NM_015972.4(POLR1D):c.251T>A (p.Ile84Asn)	POLR1D (I84N)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	GUncertain significance
Select item 31049	NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter)	POLR1D (R87*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1697855	NM_015972.4(POLR1D):c.261del (p.Gly88fs)	POLR1D (G88fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 311651	NM_015972.4(POLR1D):c.261A>G (p.Arg87=)	POLR1D	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 31053	NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs)	POLR1D (T89fs)	Duplication (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 2630776	NM_015972.4(POLR1D):c.265_268delinsTCTGAA (p.Thr89fs)	POLR1D (T89fs)	Indel (frameshift variant +1 more)	POLR1D-related disorder	GLikely pathogenic
Select item 1925778	NM_015972.4(POLR1D):c.268C>T (p.Leu90Phe)	POLR1D (L90F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975130	NM_015972.4(POLR1D):c.271C>T (p.Pro91Ser)	POLR1D (P91S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712768	NM_015972.4(POLR1D):c.275C>T (p.Ala92Val)	POLR1D (A92V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2028351	NM_015972.4(POLR1D):c.289C>T (p.Gln97Ter)	POLR1D (Q97*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1191207	NM_015972.4(POLR1D):c.308T>C (p.Leu103Pro)	POLR1D (L103P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31052	NM_015972.4(POLR1D):c.326_327del (p.His109fs)	POLR1D (H109fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 1697036	NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)	POLR1D (V110A)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1310000	NM_015972.4(POLR1D):c.329T>A (p.Val110Glu)	POLR1D (V110E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175381	NM_015972.4(POLR1D):c.359del (p.Asp120fs)	POLR1D (D120fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1312729	NM_015972.4(POLR1D):c.365A>C (p.Lys122Thr)	POLR1D (K122T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1687710	NM_015972.4(POLR1D):c.379A>G (p.Ser127Gly)	POLR1D (S127G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2210002	NM_015972.4(POLR1D):c.380G>T (p.Ser127Ile)	POLR1D (S127I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2633585	NM_015972.4(POLR1D):c.383G>A (p.Arg128Lys)	POLR1D (R128K)	Single nucleotide variant (missense variant +1 more)	POLR1D-related disorder	GUncertain significance
Select item 2303495	NM_015972.4(POLR1D):c.394A>G (p.Thr132Ala)	POLR1D (T132A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049700	NM_015972.4(POLR1D):c.*10C>T	POLR1D	Single nucleotide variant (3 prime UTR variant +1 more)	POLR1D-related disorder	GLikely benign
Select item 311653	NM_015972.4(POLR1D):c.*30C>A	POLR1D	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1258656	NM_015972.4(POLR1D):c.*49C>T	POLR1D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1178251	NM_152705.3(POLR1D):c.27-195A>G	POLR1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219351	NM_152705.3(POLR1D):c.101+70T>C	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186645	NM_152705.3(POLR1D):c.101+120C>T	POLR1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227552	NM_152705.3(POLR1D):c.101+272_101+274del	POLR1D	Microsatellite (intron variant)	not provided	GBenign
Select item 805222	NM_152705.3(POLR1D):c.117T>C (p.Leu39=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274674	NM_152705.3(POLR1D):c.219G>C (p.Ala73=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2643706	NM_152705.3(POLR1D):c.228G>C (p.Gln76His)	POLR1D (Q48H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178219	NM_152705.3(POLR1D):c.249G>A (p.Pro83=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 805223	NM_152705.3(POLR1D):c.278A>G (p.His93Arg)	POLR1D (H65R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 805224	NM_152705.3(POLR1D):c.300C>T (p.Ser100=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 805225	NM_152705.3(POLR1D):c.354G>T (p.Arg118=)	POLR1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2575718	NM_152705.3(POLR1D):c.*50del	POLR1D	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1229025	NM_152705.3(POLR1D):c.*187G>A	POLR1D	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1219989	NM_152705.3(POLR1D):c.*226A>G	POLR1D	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2684695	GRCh37/hg19 13q12.2(chr13:27847281-28473992)x3	GSX1, GTF3A +4 more	Copy number gain	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

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