3497[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 57826	GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3	CYTL1, EVC +29 more	Copy number gain	See cases	GUncertain significance
Select item 193503	NM_147127.5(EVC2):c.122C>A (p.Pro41His)	EVC, EVC2 (P41H)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +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)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262603	NM_147127.5(EVC2):c.-15G>A	EVC, EVC2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 349100	NM_147127.5(EVC2):c.-19T>C	EVC, EVC2	Single nucleotide variant (5 prime UTR variant +1 more)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 904150	NM_153717.3(EVC):c.-163G>A	EVC	Single nucleotide variant (5 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349101	NM_153717.3(EVC):c.-139G>A	EVC	Single nucleotide variant (5 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349102	NM_153717.3(EVC):c.-138GA[1]	EVC	Microsatellite (5 prime UTR variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 423023	NM_153717.3(EVC):c.-36_-35delinsAA	EVC, LOC129992144	Indel (5 prime UTR variant)	not specified	GLikely benign
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 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 1521488	NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)	EVC, LOC129992144	Deletion (inframe_deletion +1 more)	Curry-Hall syndrome +1 more	GLikely pathogenic
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 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)	EVC, LOC129992144 (M1L)	Single nucleotide variant (missense variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic
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 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 558005	NM_153717.3(EVC):c.2T>A (p.Met1Lys)	EVC, LOC129992144 (M1K)	Single nucleotide variant (missense variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely 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 193508	NM_153717.3(EVC):c.8G>C (p.Arg3Pro)	LOC129992144, EVC (R3P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +4 more	GConflicting classifications of pathogenicity
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 1725400	NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)	EVC, LOC129992144 (G5fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
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 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 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 2953716	NM_153717.3(EVC):c.24C>T (p.Cys8=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 552255	NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)	EVC, LOC129992144	Deletion (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
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 1452180	NM_153717.3(EVC):c.25A>T (p.Lys9Ter)	EVC, LOC129992144 (K9*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 1725126	NM_153717.3(EVC):c.26_36del (p.Lys9fs)	EVC, LOC129992144 (K9fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 2091284	NM_153717.3(EVC):c.27G>A (p.Lys9=)	EVC, LOC129992144	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1426256	NM_153717.3(EVC):c.27G>C (p.Lys9Asn)	EVC, LOC129992144 (K9N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1724853	NM_153717.3(EVC):c.29_30insA (p.Ser10fs)	EVC, LOC129992144 (S10fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1118563	NM_153717.3(EVC):c.30C>T (p.Ser10=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1903637	NM_153717.3(EVC):c.31G>A (p.Asp11Asn)	EVC (D11N)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1013604	NM_153717.3(EVC):c.37_38del (p.Arg13fs)	EVC (R13fs)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 1442742	NM_153717.3(EVC):c.34G>C (p.Ala12Pro)	EVC (A12P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2144124	NM_153717.3(EVC):c.37C>T (p.Arg13Trp)	EVC (R13W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1726538	NM_153717.3(EVC):c.37_40del (p.Arg13fs)	EVC (R13fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724654	NM_153717.3(EVC):c.37del (p.Arg13fs)	EVC (R13fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725930	NM_153717.3(EVC):c.39_40del (p.Leu14fs)	EVC (L14fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1528648	NM_153717.3(EVC):c.39G>A (p.Arg13=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 555913	NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)	EVC (L16del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 1724291	NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)	EVC (L14fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 764493	NM_153717.3(EVC):c.42G>A (p.Leu14=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1726544	NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)	EVC (L15fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
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 1994941	NM_153717.3(EVC):c.48G>A (p.Leu16=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1726283	NM_153717.3(EVC):c.48_55del (p.Gly17fs)	EVC (G17fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 2143219	NM_153717.3(EVC):c.49G>T (p.Gly17Trp)	EVC (G17W)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1347860	NM_153717.3(EVC):c.49G>A (p.Gly17Arg)	EVC (G17R)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2089388	NM_153717.3(EVC):c.56_174+42del	EVC	Deletion (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 2097138	NM_153717.3(EVC):c.53G>T (p.Arg18Leu)	EVC (R18L)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 1725113	NM_153717.3(EVC):c.54_61del (p.Asp19fs)	EVC (D19fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1665218	NM_153717.3(EVC):c.54G>T (p.Arg18=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1576759	NM_153717.3(EVC):c.54G>C (p.Arg18=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 3090808	NM_153717.3(EVC):c.56A>T (p.Asp19Val)	EVC (D19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 668659	NM_153717.3(EVC):c.57C>T (p.Asp19=)	EVC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1035575	NM_153717.3(EVC):c.58G>C (p.Ala20Pro)	EVC (A20P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1726284	NM_153717.3(EVC):c.59_60insA (p.Leu21fs)	EVC (L21fs)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 2156748	NM_153717.3(EVC):c.60G>C (p.Ala20=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1996150	NM_153717.3(EVC):c.62_68dup (p.Pro25fs)	EVC (P25fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic

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