132884[geneid] - 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 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 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 348975	NM_147127.5(EVC2):c.*394A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348976	NM_147127.5(EVC2):c.*384T>A	EVC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 899532	NM_147127.5(EVC2):c.*207A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 348977	NM_147127.5(EVC2):c.*141A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 899533	NM_147127.5(EVC2):c.*105C>T	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 348978	NM_147127.5(EVC2):c.*90C>T	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348979	NM_147127.5(EVC2):c.*68T>C	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 738692	NM_147127.5(EVC2):c.3924C>T (p.Asp1308=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 3090822	NM_147127.5(EVC2):c.3923A>G (p.Asp1308Gly)	EVC2 (D1228G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056108	NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)	EVC2 (M1307L +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2140992	NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)	EVC2 (L1305V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 899534	NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)	EVC2 (A1224V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 1122676	NM_147127.5(EVC2):c.3909G>A (p.Arg1303=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 183329	NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup)	EVC2	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 1567079	NM_147127.5(EVC2):c.3891T>C (p.Asn1297=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 3353219	NM_147127.5(EVC2):c.3883T>C (p.Phe1295Leu)	EVC2 (F1215L +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder	GUncertain significance
Select item 761849	NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
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 2505954	NM_147127.5(EVC2):c.3877A>T (p.Lys1293Ter)	EVC2 (K1213* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2942501	NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2937205	NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1158318	NM_147127.5(EVC2):c.3867C>T (p.Pro1289=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 718686	NM_147127.5(EVC2):c.3864T>A (p.Pro1288=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2654607	NM_147127.5(EVC2):c.3863C>T (p.Pro1288Leu)	EVC2 (P1208L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 556445	NM_147127.5(EVC2):c.3863del (p.Pro1288fs)	EVC2 (P1288fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 3276656	NM_147127.5(EVC2):c.3862C>T (p.Pro1288Ser)	EVC2 (P1208S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546568	NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)	EVC2 (V1287I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1550573	NM_147127.5(EVC2):c.3855G>A (p.Leu1285=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1016807	NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro)	EVC2 (L1205P +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1092303	NM_147127.5(EVC2):c.3853C>T (p.Leu1285=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2932913	NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1081881	NM_147127.5(EVC2):c.3849C>T (p.Ile1283=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2200094	NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)	EVC2 (E1202D +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 262616	NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2419756	NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)	EVC2 (K1199E +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1018379	NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile)	EVC2 (R1196I +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 1097998	NM_147127.5(EVC2):c.3825C>T (p.Phe1275=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1646460	NM_147127.5(EVC2):c.3822A>T (p.Ile1274=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 1586745	NM_147127.5(EVC2):c.3822A>C (p.Ile1274=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2935304	NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2926132	NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2132111	NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2612210	NM_147127.5(EVC2):c.3811A>T (p.Lys1271Ter)	EVC2 (K1191* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2179552	NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 102432	NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)	EVC2 (G1269* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome	GPathogenic
Select item 102431	NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)	EVC2 (L1266* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome	GPathogenic
Select item 102430	NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)	EVC2 (L1266* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 2945295	NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 2947124	NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 3388	NM_147127.5(EVC2):c.3793del (p.Leu1265fs)	EVC2 (L1265fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome	GPathogenic
Select item 2042523	NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)	EVC2 (I1183F +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 2371249	NM_147127.5(EVC2):c.3782A>T (p.Glu1261Val)	EVC2 (E1181V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1474732	NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)	EVC2 (A1180V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 817357	NM_147127.5(EVC2):c.3779del (p.Ala1260fs)	EVC2 (A1260fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2025692	NM_147127.5(EVC2):c.3778del (p.Ala1260fs)	EVC2 (A1180fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 2945444	NM_147127.5(EVC2):c.3774A>C (p.Val1258=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 1615902	NM_147127.5(EVC2):c.3774A>T (p.Val1258=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 2196731	NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)	EVC2 (V1178L +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 772638	NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GLikely benign
Select item 3090821	NM_147127.5(EVC2):c.3770T>C (p.Ile1257Thr)	EVC2 (I1257T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639672	NM_147127.5(EVC2):c.3762del (p.Val1255fs)	EVC2 (V1175fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic

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