15763[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 165

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2688249	NM_006466.4(POLR3F):c.-72C>A	POLR3F	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 3216602	NM_006466.4(POLR3F):c.106C>G (p.Gln36Glu)	POLR3F (Q36E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3216603	NM_006466.4(POLR3F):c.113T>C (p.Ile38Thr)	POLR3F (I38T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2413423	NM_006466.4(POLR3F):c.133A>G (p.Ile45Val)	POLR3F (I45V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2132855	NM_006466.4(POLR3F):c.134T>C (p.Ile45Thr)	POLR3F (I4T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3308842	NM_006466.4(POLR3F):c.149G>A (p.Arg50Gln)	POLR3F (R9Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2796528	NM_006466.4(POLR3F):c.160A>G (p.Ile54Val)	POLR3F (I13V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2041781	NM_006466.4(POLR3F):c.180+4A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878568	NM_006466.4(POLR3F):c.180+18A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877846	NM_006466.4(POLR3F):c.181-14G>A	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874028	NM_006466.4(POLR3F):c.185A>G (p.Gln62Arg)	POLR3F (Q21R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2556292	NM_006466.4(POLR3F):c.206A>G (p.Asn69Ser)	POLR3F (N69S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2870765	NM_006466.4(POLR3F):c.208A>T (p.Thr70Ser)	POLR3F (T29S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955460	NM_006466.4(POLR3F):c.209C>T (p.Thr70Met)	POLR3F (T29M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2745513	NM_006466.4(POLR3F):c.227T>A (p.Ile76Lys)	POLR3F (I76K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2173884	NM_006466.4(POLR3F):c.230A>G (p.Lys77Arg)	POLR3F (K36R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2082423	NM_006466.4(POLR3F):c.234C>T (p.Asp78=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2489439	NM_006466.4(POLR3F):c.245C>G (p.Ala82Gly)	POLR3F (A82G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2826555	NM_006466.4(POLR3F):c.248G>A (p.Gly83Asp)	POLR3F (G83D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783542	NM_006466.4(POLR3F):c.248+7A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811962	NM_006466.4(POLR3F):c.248+11G>T	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132856	NM_006466.4(POLR3F):c.248+18del	POLR3F	Deletion (intron variant)	not provided	GBenign
Select item 2023482	NM_006466.4(POLR3F):c.249-12A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2069957	NM_006466.4(POLR3F):c.249-8C>T	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997772	NM_006466.4(POLR3F):c.249-4A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2008013	NM_006466.4(POLR3F):c.264C>T (p.Ser88=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1687027	NM_006466.4(POLR3F):c.271C>T (p.Gln91Ter)	POLR3F (Q50* +1 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 101 (varicella zoster virus-specific)	GPathogenic
Select item 2075719	NM_006466.4(POLR3F):c.291A>G (p.Gln97=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094360	NM_006466.4(POLR3F):c.301G>A (p.Asp101Asn)	POLR3F (D60N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172480	NM_006466.4(POLR3F):c.306A>C (p.Ala102=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111013	NM_006466.4(POLR3F):c.308G>A (p.Gly103Glu)	POLR3F (G103E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858850	NM_006466.4(POLR3F):c.316+3A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2818574	NM_006466.4(POLR3F):c.316+7del	POLR3F	Deletion (intron variant)	not provided	GUncertain significance
Select item 2194816	NM_006466.4(POLR3F):c.316+8T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076004	NM_006466.4(POLR3F):c.316+10T>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2879744	NM_006466.4(POLR3F):c.316+15G>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2875813	NM_006466.4(POLR3F):c.317-21_317-17del	POLR3F	Deletion (intron variant)	not provided	GLikely benign
Select item 2043924	NM_006466.4(POLR3F):c.317-8T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2904481	NM_006466.4(POLR3F):c.317-3T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2083908	NM_006466.4(POLR3F):c.317-2A>G	POLR3F	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2133059	NM_006466.4(POLR3F):c.317G>A (p.Gly106Glu)	POLR3F (G106E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909520	NM_006466.4(POLR3F):c.322T>G (p.Trp108Gly)	POLR3F (W67G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841344	NM_006466.4(POLR3F):c.341A>G (p.Tyr114Cys)	POLR3F (Y73C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127949	NM_006466.4(POLR3F):c.344A>G (p.Lys115Arg)	POLR3F (K74R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1983911	NM_006466.4(POLR3F):c.348T>C (p.Ser116=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2849191	NM_006466.4(POLR3F):c.429+4A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2042057	NM_006466.4(POLR3F):c.429+14T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877910	NM_006466.4(POLR3F):c.429+17T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971505	NM_006466.4(POLR3F):c.429+18C>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2687933	NM_006466.4(POLR3F):c.430-68A>T	POLR3F	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688079	NM_006466.4(POLR3F):c.430-41G>A	POLR3F	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1995562	NM_006466.4(POLR3F):c.430-17_430-16del	POLR3F	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2091738	NM_006466.4(POLR3F):c.430-18G>A	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715548	NM_006466.4(POLR3F):c.430-10T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2056340	NM_006466.4(POLR3F):c.440del (p.Lys147fs)	POLR3F (K147fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2007760	NM_006466.4(POLR3F):c.438A>G (p.Lys146=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2752103	NM_006466.4(POLR3F):c.443dup (p.Val149fs)	POLR3F (V149fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2060969	NM_006466.4(POLR3F):c.444G>A (p.Lys148=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2007481	NM_006466.4(POLR3F):c.456C>G (p.Leu152=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2026350	NM_006466.4(POLR3F):c.463C>T (p.Leu155=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2475938	NM_006466.4(POLR3F):c.469C>G (p.Pro157Ala)	POLR3F (P157A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296908	NM_006466.4(POLR3F):c.476G>A (p.Arg159Gln)	POLR3F (R118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2135440	NM_006466.4(POLR3F):c.498dup (p.Tyr167fs)	POLR3F (Y167fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2745901	NM_006466.4(POLR3F):c.526T>C (p.Phe176Leu)	POLR3F (F135L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2134286	NM_006466.4(POLR3F):c.534G>A (p.Glu178=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2702682	NM_006466.4(POLR3F):c.537G>C (p.Val179=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2868526	NM_006466.4(POLR3F):c.564A>G (p.Leu188=)	POLR3F	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1972613	NM_006466.4(POLR3F):c.569C>A (p.Ser190Tyr)	POLR3F (S190Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2881374	NM_006466.4(POLR3F):c.573+19A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797292	NM_006466.4(POLR3F):c.574-17T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876348	NM_006466.4(POLR3F):c.574-16G>A	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867477	NM_006466.4(POLR3F):c.574-10A>G	POLR3F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971034	NM_006466.4(POLR3F):c.574-5T>C	POLR3F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049036	NM_006466.4(POLR3F):c.580A>G (p.Thr194Ala)	POLR3F (T194A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085795	NM_006466.4(POLR3F):c.586C>T (p.Arg196Ter)	POLR3F (R148* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2091747	NM_006466.4(POLR3F):c.593G>T (p.Ser198Ile)	POLR3F (S150I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976602	NM_006466.4(POLR3F):c.593G>C (p.Ser198Thr)	POLR3F (S157T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2040773	NM_006466.4(POLR3F):c.600G>A (p.Gln200=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1974123	NM_006466.4(POLR3F):c.603C>T (p.Asn201=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2889789	NM_006466.4(POLR3F):c.607A>G (p.Met203Val)	POLR3F (M203V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818077	NM_006466.4(POLR3F):c.617G>A (p.Arg206Lys)	POLR3F (R165K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2368937	NM_006466.4(POLR3F):c.622A>G (p.Ser208Gly)	POLR3F (S167G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2779988	NM_006466.4(POLR3F):c.639A>G (p.Ser213=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174856	NM_006466.4(POLR3F):c.648G>A (p.Val216=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2170071	NM_006466.4(POLR3F):c.663C>T (p.Cys221=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2184047	NM_006466.4(POLR3F):c.664G>A (p.Glu222Lys)	POLR3F (E222K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1972464	NM_006466.4(POLR3F):c.667T>C (p.Leu223=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1977871	NM_006466.4(POLR3F):c.672A>G (p.Gly224=)	POLR3F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2017549	NM_006466.4(POLR3F):c.676A>C (p.Ser226Arg)	POLR3F (S178R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 2