"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550613	NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)	EVC2 (K1293del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1095627	NM_147127.5(EVC2):c.3858C>T (p.His1286=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 439671	NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)	EVC2 (I1234M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 516538	NM_147127.5(EVC2):c.3660-18C>A	EVC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 435102	NM_147127.5(EVC2):c.3659+8T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +3 more	GBenign/Likely benign
Select item 995661	NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg)	EVC2 (S1110R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506668	NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 195540	NM_147127.5(EVC2):c.3557+10G>A	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 771811	NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 618095	NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 993994	NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)	EVC2 (R1060H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 772299	NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 810929	NM_147127.5(EVC2):c.3361-89C>A	EVC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 348984	NM_147127.5(EVC2):c.3272+8G>A	EVC2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 348985	NM_147127.5(EVC2):c.3272+7C>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 348986	NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 348989	NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)	EVC2 (S1046R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 348992	NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)	EVC2 (L1014V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 348994	NM_147127.5(EVC2):c.2883A>C (p.Gly961=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 707500	NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)	EVC2 (R875W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 348998	NM_147127.5(EVC2):c.2707-5T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 391014	NM_147127.5(EVC2):c.2707-13A>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 618631	NM_147127.5(EVC2):c.2707-66C>T	EVC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 772198	NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)	EVC2 (A803V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 281702	NM_147127.5(EVC2):c.2601C>T (p.Ala867=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +3 more	GBenign/Likely benign
Select item 618097	NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)	EVC2 (R864K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1123930	NM_147127.5(EVC2):c.2556G>A (p.Arg852=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 993460	NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)	EVC2 (W748* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 766909	NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)	EVC2 (D799H +1 more)	Indel (missense variant)	not provided +2 more	GBenign
Select item 349057	NM_147127.5(EVC2):c.2395G>C (p.Asp799His)	EVC2 (D799H +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 349058	NM_147127.5(EVC2):c.2394G>A (p.Arg798=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 618096	NM_147127.5(EVC2):c.2180G>A (p.Arg727His)	EVC2 (R727H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 194441	NM_147127.5(EVC2):c.2151C>T (p.His717=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 656440	NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)	EVC2 (R698* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 993335	NM_147127.5(EVC2):c.2079C>T (p.Val693=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 281703	NM_147127.5(EVC2):c.2047-9A>T	EVC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 235459	NM_147127.5(EVC2):c.2029C>A (p.Arg677=)	EVC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 905837	NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)	EVC2 (R564Q +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 349077	NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)	EVC2 (E628K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349079	NM_147127.5(EVC2):c.1845C>T (p.Thr615=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 281122	NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	EVC2 (R608H +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 993914	NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)	EVC2 (D498N +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 349080	NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)	EVC2 (M577T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 1628699	NM_147127.5(EVC2):c.1711-12_1711-10dup	EVC2	Duplication (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 2920907	NM_147127.5(EVC2):c.1470G>A (p.Arg490=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 281704	NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)	EVC2, LOC126806961 (G488S +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +3 more	GLikely benign
Select item 772196	NM_147127.5(EVC2):c.1452G>A (p.Leu484=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 235428	NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)	EVC2, LOC126806961 (T462A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 193762	NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	EVC2, LOC126806961 (T455R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 349087	NM_147127.5(EVC2):c.1311A>G (p.Leu437=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 349088	NM_147127.5(EVC2):c.1224C>T (p.Ala408=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349089	NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)	EVC2, LOC126806961 (T400A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 439672	NM_147127.5(EVC2):c.1110del (p.Glu371fs)	EVC2 (E291fs +1 more)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 349091	NM_147127.5(EVC2):c.1059C>T (p.Gly353=)	EVC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 461812	NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)	EVC2 (A305S +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 994114	NM_147127.5(EVC2):c.902G>C (p.Gly301Ala)	EVC2 (G221A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 423241	NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)	EVC2 (G296A +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262621	NM_147127.5(EVC2):c.885C>T (p.His295=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GLikely benign
Select item 284852	NM_147127.5(EVC2):c.864C>T (p.Asn288=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +3 more	GBenign/Likely benign
Select item 349093	NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)	EVC2 (R272W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 288144	NM_147127.5(EVC2):c.707-4G>A	EVC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 514070	NM_147127.5(EVC2):c.707-20_707-19del	EVC2	Deletion (intron variant)	not specified +3 more	GLikely benign
Select item 349094	NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)	EVC2 (K231R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262619	NM_147127.5(EVC2):c.675A>G (p.Gly225=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 439673	NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)	EVC2 (W215* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +2 more	GPathogenic
Select item 349096	NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)	EVC2 (R184C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 498505	NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)	EVC2 (S155P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439670	NM_147127.5(EVC2):c.451-7del	EVC2	Deletion (intron variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 516540	NM_147127.5(EVC2):c.451-16_451-15del	EVC2	Deletion (intron variant)	not provided +3 more	GBenign
Select item 439669	NM_147127.5(EVC2):c.451-52G>A	EVC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 349097	NM_147127.5(EVC2):c.446G>A (p.Arg149His)	EVC2 (R149H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349098	NM_147127.5(EVC2):c.307T>C (p.Leu103=)	EVC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 193503	NM_147127.5(EVC2):c.122C>A (p.Pro41His)	EVC2, EVC (P41H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285109	NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)	EVC, EVC2 (L31P)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 262618	NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)	EVC, EVC2 (L18F)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +3 more	GBenign
Select item 193502	NM_147127.5(EVC2):c.18C>T (p.Ser6=)	EVC2	Single nucleotide variant (synonymous variant +1 more)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76