Related gene-specific medical variations for Gene (Select 2121) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065083	NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)	EVC (Q455*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 3064866	NM_153717.3(EVC):c.801del (p.Asp268fs)	EVC (D268fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 2953716	NM_153717.3(EVC):c.24C>T (p.Cys8=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2936900	NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)	EVC, LOC129992144 (M1L)	Indel (missense variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2934557	NM_153717.3(EVC):c.1A>C (p.Met1Leu)	LOC129992144, EVC (M1L)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2928212	NM_153717.3(EVC):c.14G>T (p.Gly5Val)	EVC, LOC129992144 (G5V)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2690598	NM_153717.3(EVC):c.645_647delinsG (p.Ser215fs)	EVC (S215fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2551643	NM_001014809.3(CRMP1):c.1857G>T (p.Glu619Asp)	CRMP1, EVC (E503D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497686	NM_153717.3(EVC):c.2329G>T (p.Glu777Ter)	EVC (E777*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2473252	NM_001014809.3(CRMP1):c.1933A>G (p.Ile645Val)	CRMP1, EVC (I645V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399920	NM_001014809.3(CRMP1):c.1741C>T (p.Arg581Cys)	EVC, CRMP1 (R461C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318982	NM_001014809.3(CRMP1):c.1978A>C (p.Ile660Leu)	CRMP1, EVC (I660L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216034	NM_001014809.3(CRMP1):c.1786G>A (p.Val596Ile)	EVC, CRMP1 (V596I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2123597	NM_153717.3(EVC):c.1A>G (p.Met1Val)	EVC, LOC129992144 (M1V)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2091284	NM_153717.3(EVC):c.27G>A (p.Lys9=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2067635	NM_153717.3(EVC):c.2T>C (p.Met1Thr)	EVC, LOC129992144 (M1T)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2022117	NM_153717.3(EVC):c.21C>G (p.Ala7=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1808163	GRCh37/hg19 4p16.2(chr4:5720274-5800154)x1	EVC	Copy number loss	not provided	GUncertain significance
Select item 1726659	NM_153717.3(EVC):c.26del (p.Lys9fs)	EVC, LOC129992144 (K9fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726476	NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)	EVC, LOC129992144 (A2fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725454	NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)	EVC, LOC129992144 (G4fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725400	NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)	EVC, LOC129992144 (G5fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1671635	NM_153717.3(EVC):c.9C>A (p.Arg3=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1521488	NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)	LOC129992144, EVC	Deletion (inframe_deletion +1 more)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 1452180	NM_153717.3(EVC):c.25A>T (p.Lys9Ter)	EVC, LOC129992144 (K9*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1443468	NM_153717.3(EVC):c.16del (p.Ala6fs)	EVC, LOC129992144 (A6fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1426256	NM_153717.3(EVC):c.27G>C (p.Lys9Asn)	EVC, LOC129992144 (K9N)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1330642	NM_153717.3(EVC):c.703-4del	EVC	Deletion (intron variant)	not provided	GLikely benign
Select item 1324351	NM_153717.3(EVC):c.1771C>T (p.Gln591Ter)	EVC (Q591*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1324350	NM_153717.3(EVC):c.2416del (p.Glu806fs)	EVC (E806fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322837	NM_153717.3(EVC):c.414dup (p.Leu139fs)	EVC (L139fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 998010	NM_153717.3(EVC):c.1465-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome	GLikely pathogenic
Select item 990329	NM_153717.3(EVC):c.2925A>C (p.Glu975Asp)	EVC (E974D +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990328	NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)	EVC (D885N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990327	NM_153717.3(EVC):c.2395A>G (p.Arg799Gly)	EVC (R799G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990326	NM_153717.3(EVC):c.1850G>T (p.Arg617Leu)	EVC (R617L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990325	NM_153717.3(EVC):c.1564-3C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990324	NM_153717.3(EVC):c.1135G>T (p.Ala379Ser)	EVC (A379S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990323	NM_153717.3(EVC):c.1109A>T (p.Glu370Val)	EVC (E370V)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 990321	NM_153717.3(EVC):c.46C>T (p.Leu16=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 906987	NM_153717.3(EVC):c.*1976C>T	EVC, LOC129992148	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 904930	NM_153717.3(EVC):c.-20C>A	EVC, LOC129992144	Single nucleotide variant (5 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 712545	NM_001014809.3(CRMP1):c.1821G>C (p.Gly607=)	CRMP1, EVC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687468	GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3	EVC	Copy number gain	not provided	GUncertain significance
Select item 618094	NM_153717.3(EVC):c.1416del (p.Phe473fs)	EVC (F473fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 592075	NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs)	EVC (S974fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 592069	NM_153717.3(EVC):c.252del (p.Arg85fs)	EVC (R85fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591645	NM_153717.3(EVC):c.2504C>A (p.Ser835Ter)	EVC (S835*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 558005	NM_153717.3(EVC):c.2T>A (p.Met1Lys)	EVC, LOC129992144 (M1K)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552255	NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)	EVC, LOC129992144	Deletion (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 423023	NM_153717.3(EVC):c.-36_-35delinsAA	EVC, LOC129992144	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 349261	NM_153717.3(EVC):c.*1981A>G	EVC, LOC129992148	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349104	NM_153717.3(EVC):c.-35C>A	EVC, LOC129992144	Single nucleotide variant (5 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349103	NM_153717.3(EVC):c.-36G>A	EVC, LOC129992144	Single nucleotide variant (5 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 193508	NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	EVC, LOC129992144 (R3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 152795	GRCh38/hg38 4p16.2(chr4:5720860-5741769)x3	EVC	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 57