UNC5C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 152297	GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3	BMPR1B, BMPR1B-DT +3 more	Copy number gain	See cases	GLikely benign
Select item 149266	GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3	BMPR1B, BMPR1B-DT +5 more	Copy number gain	See cases	GUncertain significance
Select item 144774	GRCh38/hg38 4q22.3(chr4:94901973-95207176)x1	BMPR1B, UNC5C	Copy number loss	See cases	GUncertain significance
Select item 2374390	NM_003728.4(UNC5C):c.2791T>C (p.Tyr931His)	UNC5C (Y931H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295414	NM_003728.4(UNC5C):c.2789A>G (p.Gln930Arg)	UNC5C (Q930R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048687	NM_003728.4(UNC5C):c.2772C>T (p.Ser924=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GLikely benign
Select item 3039977	NM_003728.4(UNC5C):c.2709T>C (p.Asp903=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GBenign
Select item 2398665	NM_003728.4(UNC5C):c.2707G>A (p.Asp903Asn)	UNC5C (D903N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331064	NM_003728.4(UNC5C):c.2695C>G (p.Gln899Glu)	UNC5C (Q899E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251759	NM_003728.4(UNC5C):c.2688G>C (p.Trp896Cys)	UNC5C (W896C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690431	NM_003728.4(UNC5C):c.2676C>G (p.Ile892Met)	UNC5C (I892M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 786040	NM_003728.4(UNC5C):c.2670C>T (p.Gly890=)	UNC5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260012	NM_003728.4(UNC5C):c.2587G>A (p.Gly863Ser)	UNC5C (G863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456618	NM_003728.4(UNC5C):c.2582C>T (p.Thr861Met)	UNC5C (T861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690432	NM_003728.4(UNC5C):c.2578C>A (p.Gln860Lys)	UNC5C (Q860K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331060	NM_003728.4(UNC5C):c.2542A>C (p.Ile848Leu)	UNC5C (I848L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630639	NM_003728.4(UNC5C):c.2537T>C (p.Leu846Pro)	UNC5C (L846P)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GUncertain significance
Select item 2317945	NM_003728.4(UNC5C):c.2534C>T (p.Pro845Leu)	UNC5C (P845L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654955	NM_003728.4(UNC5C):c.2521G>A (p.Ala841Thr)	UNC5C (A841T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654956	NM_003728.4(UNC5C):c.2514G>A (p.Gly838=)	UNC5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569079	NM_003728.4(UNC5C):c.2467G>A (p.Asp823Asn)	UNC5C (D823N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186621	NM_003728.4(UNC5C):c.2462G>A (p.Gly821Asp)	UNC5C (G821D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507563	NM_003728.4(UNC5C):c.2452G>C (p.Glu818Gln)	UNC5C (E818Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044981	NM_003728.4(UNC5C):c.2448A>G (p.Ser816=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GLikely benign
Select item 2208808	NM_003728.4(UNC5C):c.2443G>A (p.Val815Met)	UNC5C (V815M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037433	NM_003728.4(UNC5C):c.2442C>T (p.Thr814=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GLikely benign
Select item 2277894	NM_003728.4(UNC5C):c.2434A>C (p.Asn812His)	UNC5C (N812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411319	NM_003728.4(UNC5C):c.2416G>A (p.Gly806Arg)	UNC5C (G806R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371428	NM_003728.4(UNC5C):c.2401C>G (p.Gln801Glu)	UNC5C (Q801E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276530	NM_003728.4(UNC5C):c.2389C>T (p.Leu797Phe)	UNC5C (L797F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369226	NM_003728.4(UNC5C):c.2388A>T (p.Lys796Asn)	UNC5C (K796N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289716	NM_003728.4(UNC5C):c.2312G>A (p.Ser771Asn)	UNC5C (S771N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261522	NM_003728.4(UNC5C):c.2265C>G (p.Ser755Arg)	UNC5C (S755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186620	NM_003728.4(UNC5C):c.2239G>A (p.Asp747Asn)	UNC5C (D747N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455972	NM_003728.4(UNC5C):c.2225G>A (p.Arg742His)	UNC5C (R742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057306	NM_003728.4(UNC5C):c.2221C>T (p.Leu741=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GLikely benign
Select item 3186619	NM_003728.4(UNC5C):c.2210G>C (p.Ser737Thr)	UNC5C (S737T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331066	NM_003728.4(UNC5C):c.2207G>A (p.Gly736Asp)	UNC5C (G736D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313252	NM_003728.4(UNC5C):c.2163G>A (p.Met721Ile)	UNC5C (M721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060184	NM_003728.4(UNC5C):c.2162T>C (p.Met721Thr)	UNC5C (M721T)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GBenign
Select item 2483817	NM_003728.4(UNC5C):c.2156G>C (p.Arg719Thr)	UNC5C (R719T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056866	NM_003728.4(UNC5C):c.2065C>G (p.Pro689Ala)	UNC5C (P689A)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GBenign
Select item 3060708	NM_003728.4(UNC5C):c.2037G>A (p.Ala679=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GBenign
Select item 3044338	NM_003728.4(UNC5C):c.2036C>T (p.Ala679Val)	UNC5C (A679V)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GLikely benign
Select item 3186618	NM_003728.4(UNC5C):c.1918G>A (p.Gly640Arg)	UNC5C (G640R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042011	NM_003728.4(UNC5C):c.1883C>A (p.Ala628Glu)	UNC5C (A628E)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GBenign
Select item 3041410	NM_003728.4(UNC5C):c.1882G>A (p.Ala628Thr)	UNC5C (A628T)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GBenign
Select item 3186617	NM_003728.4(UNC5C):c.1837G>A (p.Ala613Thr)	UNC5C (A613T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059577	NM_003728.4(UNC5C):c.1812A>C (p.Pro604=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GBenign
Select item 2672996	NM_003728.4(UNC5C):c.1807C>T (p.Arg603Cys)	UNC5C (R603C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2266036	NM_003728.4(UNC5C):c.1738C>A (p.Pro580Thr)	UNC5C (P580T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382369	NM_003728.4(UNC5C):c.1666G>A (p.Ala556Thr)	UNC5C (A556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257938	NM_003728.4(UNC5C):c.1614G>A (p.Ser538=)	LOC126807113, UNC5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186616	NM_003728.4(UNC5C):c.1599T>G (p.Phe533Leu)	LOC126807113, UNC5C (F533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331058	NM_003728.4(UNC5C):c.1559A>G (p.Gln520Arg)	LOC126807113, UNC5C (Q520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654957	NM_003728.4(UNC5C):c.1524G>A (p.Ser508=)	LOC126807113, UNC5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057411	NM_003728.4(UNC5C):c.1494G>A (p.Thr498=)	LOC126807113, UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GLikely benign
Select item 3331059	NM_003728.4(UNC5C):c.1462G>A (p.Val488Ile)	LOC126807113, UNC5C (V488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186615	NM_003728.4(UNC5C):c.1450A>C (p.Thr484Pro)	LOC126807113, UNC5C (T484P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371260	NM_003728.4(UNC5C):c.1400A>G (p.Asn467Ser)	LOC126807113, UNC5C (N467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525918	NM_003728.4(UNC5C):c.1375G>C (p.Val459Leu)	LOC126807113, UNC5C (V459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331057	NM_003728.4(UNC5C):c.1328C>T (p.Thr443Met)	LOC126807113, UNC5C (T443M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555642	NM_003728.4(UNC5C):c.1318C>G (p.Pro440Ala)	LOC126807113, UNC5C (P440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315679	NM_003728.4(UNC5C):c.1315C>A (p.Pro439Thr)	LOC126807113, UNC5C (P439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331067	NM_003728.4(UNC5C):c.1310C>T (p.Ala437Val)	LOC126807113, UNC5C (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186614	NM_003728.4(UNC5C):c.1237A>G (p.Ile413Val)	LOC126807113, UNC5C (I413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362231	NM_003728.4(UNC5C):c.1154T>C (p.Ile385Thr)	LOC126807113, UNC5C (I385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306647	NM_003728.4(UNC5C):c.1025C>T (p.Ala342Val)	UNC5C (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654958	NM_003728.4(UNC5C):c.933G>A (p.Thr311=)	UNC5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331063	NM_003728.4(UNC5C):c.884G>C (p.Gly295Ala)	UNC5C (G295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231267	NM_003728.4(UNC5C):c.857C>A (p.Thr286Asn)	UNC5C (T286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186623	NM_003728.4(UNC5C):c.848G>A (p.Arg283His)	UNC5C (R283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056877	NM_003728.4(UNC5C):c.801G>A (p.Thr267=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GBenign
Select item 2339620	NM_003728.4(UNC5C):c.800C>T (p.Thr267Met)	UNC5C (T267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331062	NM_003728.4(UNC5C):c.751A>G (p.Thr251Ala)	UNC5C (T251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236447	NM_003728.4(UNC5C):c.686C>T (p.Ala229Val)	UNC5C (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253060	NM_003728.4(UNC5C):c.631G>C (p.Val211Leu)	UNC5C (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529466	NM_003728.4(UNC5C):c.541G>A (p.Glu181Lys)	UNC5C (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353557	NM_003728.4(UNC5C):c.490+8A>G	UNC5C	Single nucleotide variant (intron variant)	UNC5C-related disorder	GLikely benign
Select item 3331061	NM_003728.4(UNC5C):c.354T>G (p.Ile118Met)	UNC5C (I118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300532	NM_003728.4(UNC5C):c.340A>T (p.Thr114Ser)	UNC5C (T114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033334	NM_003728.4(UNC5C):c.319G>C (p.Val107Leu)	UNC5C (V107L)	Single nucleotide variant (missense variant)	UNC5C-related disorder	GBenign
Select item 3059355	NM_003728.4(UNC5C):c.291T>C (p.Ser97=)	UNC5C	Single nucleotide variant (synonymous variant)	UNC5C-related disorder	GBenign
Select item 3034732	NM_003728.4(UNC5C):c.124+6G>A	UNC5C	Single nucleotide variant (intron variant)	UNC5C-related disorder	GLikely benign
Select item 3186622	NM_003728.4(UNC5C):c.38G>A (p.Gly13Glu)	UNC5C (G13E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217714	NM_003728.4(UNC5C):c.26C>A (p.Ala9Glu)	UNC5C (A9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462135	NM_003728.4(UNC5C):c.10G>T (p.Gly4Cys)	UNC5C (G4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685982	GRCh37/hg19 4q22.3(chr4:95975469-96181200)x3	BMPR1B, UNC5C	Copy number gain	not provided	GUncertain significance
Select item 2685120	GRCh37/hg19 4q22.3(chr4:96076813-97410812)x1	BMPR1B, PDHA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527111	GRCh37/hg19 4q22.3(chr4:95975469-96181052)	BMPR1B, UNC5C	Copy number gain	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic

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