"EVC-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2632960	NM_153717.3(EVC):c.70G>T (p.Ala24Ser)	EVC (A24S)	Single nucleotide variant (missense variant)	EVC-related disorder	GUncertain significance
Select item 290794	NM_153717.3(EVC):c.89C>T (p.Pro30Leu)	EVC (P30L)	Single nucleotide variant (missense variant)	EVC-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 500494	NM_153717.3(EVC):c.93C>G (p.Ala31=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1003868	NM_153717.3(EVC):c.107C>G (p.Ala36Gly)	EVC (A36G)	Single nucleotide variant (missense variant)	EVC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 766819	NM_153717.3(EVC):c.162C>T (p.Arg54=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GBenign
Select item 720077	NM_153717.3(EVC):c.175-10C>T	EVC	Single nucleotide variant (intron variant)	EVC-related disorder +2 more	GLikely benign
Select item 2634745	NM_153717.3(EVC):c.367A>G (p.Ile123Val)	EVC (I123V)	Single nucleotide variant (missense variant)	EVC-related disorder	GUncertain significance
Select item 551134	NM_153717.3(EVC):c.384+5G>C	EVC	Single nucleotide variant (intron variant)	EVC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 349109	NM_153717.3(EVC):c.442T>C (p.Leu148=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 349110	NM_153717.3(EVC):c.532G>A (p.Val178Ile)	EVC (V178I)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 283079	NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	EVC (D184N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2635592	NM_153717.3(EVC):c.618-2A>G	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 766779	NM_153717.3(EVC):c.717T>A (p.Ile239=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1384354	NM_153717.3(EVC):c.853A>G (p.Met285Val)	EVC (M285V)	Single nucleotide variant (missense variant)	EVC-related disorder +2 more	GUncertain significance
Select item 2630760	NM_153717.3(EVC):c.860G>T (p.Gly287Val)	EVC (G287V)	Single nucleotide variant (missense variant)	EVC-related disorder	GUncertain significance
Select item 1145744	NM_153717.3(EVC):c.876G>A (p.Glu292=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GLikely benign
Select item 349168	NM_153717.3(EVC):c.934G>A (p.Asp312Asn)	EVC (D312N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1461848	NM_153717.3(EVC):c.939T>A (p.Asn313Lys)	EVC (N313K)	Single nucleotide variant (missense variant)	EVC-related disorder +2 more	GUncertain significance
Select item 498649	NM_153717.3(EVC):c.1040C>T (p.Thr347Met)	EVC (T347M)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GLikely benign
Select item 2631448	NM_153717.3(EVC):c.1102G>C (p.Ala368Pro)	EVC (A368P)	Single nucleotide variant (missense variant)	EVC-related disorder	GUncertain significance
Select item 1454318	NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)	EVC (Q390*)	Single nucleotide variant (nonsense)	EVC-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3044517	NM_153717.3(EVC):c.1219C>T (p.Leu407=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder	GLikely benign
Select item 2924063	NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)	EVC (Q424fs)	Deletion (frameshift variant)	Curry-Hall syndrome +2 more	GPathogenic
Select item 349174	NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)	EVC (R438Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 349175	NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)	EVC (K445Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349176	NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)	EVC (E457K)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 349177	NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)	EVC (E476D)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 2060053	NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)	EVC (L494P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 446659	NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	EVC (M500I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 349181	NM_153717.3(EVC):c.1528G>A (p.Val510Ile)	EVC (V510I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 349183	NM_153717.3(EVC):c.1636A>G (p.Met546Val)	EVC (M546V)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 2044477	NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)	EVC (E553D)	Single nucleotide variant (missense variant)	EVC-related disorder +2 more	GUncertain significance
Select item 774642	NM_153717.3(EVC):c.1707G>C (p.Leu569=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GLikely benign
Select item 530946	NM_153717.3(EVC):c.1770C>T (p.Asp590=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3034010	NM_153717.3(EVC):c.1776+4C>T	EVC	Single nucleotide variant (intron variant)	EVC-related disorder	GLikely benign
Select item 194282	NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)	EVC (R609Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1096697	NM_153717.3(EVC):c.1872C>T (p.Gly624=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GLikely benign
Select item 550897	NM_153717.3(EVC):c.1887-5_1904del	EVC	Deletion (splice acceptor variant)	Ellis-van Creveld syndrome +3 more	GPathogenic/Likely pathogenic
Select item 500274	NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)	EVC (R647Q)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 349192	NM_153717.3(EVC):c.1995G>A (p.Ser665=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 767386	NM_153717.3(EVC):c.2098-10T>C	EVC	Single nucleotide variant (intron variant)	EVC-related disorder +2 more	GLikely benign
Select item 349195	NM_153717.3(EVC):c.2241G>A (p.Ala747=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 349196	NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)	EVC (S759N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 751597	NM_153717.3(EVC):c.2376G>A (p.Ala792=)	EVC	Single nucleotide variant (synonymous variant)	EVC-related disorder +2 more	GLikely benign
Select item 2203512	NM_153717.3(EVC):c.2783-3C>A	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 904523	NM_153717.3(EVC):c.*3T>G	EVC	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 47