ADGRA3[gene] - 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 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	USP17L13, USP17L15 +716 more	Copy number gain	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 150333	GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1	ADGRA3, CLRN2 +60 more	Copy number loss	See cases	GUncertain significance
Select item 2814550	NM_145290.4(ADGRA3):c.3959C>T (p.Thr1320Ile)	ADGRA3 (T1320I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504534	NM_145290.4(ADGRA3):c.3958del (p.Thr1320fs)	ADGRA3 (T1320fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1937885	NM_145290.4(ADGRA3):c.3951C>G (p.His1317Gln)	ADGRA3 (H1317Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1104849	NM_145290.4(ADGRA3):c.3951C>T (p.His1317=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024892	NM_145290.4(ADGRA3):c.3932G>A (p.Arg1311Lys)	ADGRA3 (R1311K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900951	NM_145290.4(ADGRA3):c.3926A>G (p.Asn1309Ser)	ADGRA3 (N1309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825103	NM_145290.4(ADGRA3):c.3923G>T (p.Gly1308Val)	ADGRA3 (G1308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100990	NM_145290.4(ADGRA3):c.3919A>C (p.Thr1307Pro)	ADGRA3 (T1307P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2340399	NM_145290.4(ADGRA3):c.3916A>T (p.Ser1306Cys)	ADGRA3 (S1306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1524927	NM_145290.4(ADGRA3):c.3913G>A (p.Asp1305Asn)	ADGRA3 (D1305N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652478	NM_145290.4(ADGRA3):c.3912C>T (p.Thr1304=)	ADGRA3	Single nucleotide variant (synonymous variant)	ADGRA3-related condition +1 more	GLikely benign
Select item 1023904	NM_145290.4(ADGRA3):c.3907G>A (p.Gly1303Ser)	ADGRA3 (G1303S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839957	NM_145290.4(ADGRA3):c.3907G>T (p.Gly1303Cys)	ADGRA3 (G1303C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3027648	NM_145290.4(ADGRA3):c.3893A>C (p.Glu1298Ala)	ADGRA3 (E1298A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 860780	NM_145290.4(ADGRA3):c.3885T>A (p.Asn1295Lys)	ADGRA3 (N1295K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715554	NM_145290.4(ADGRA3):c.3877A>G (p.Lys1293Glu)	ADGRA3 (K1293E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498626	NM_145290.4(ADGRA3):c.3875T>C (p.Ile1292Thr)	ADGRA3 (I1292T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463904	NM_145290.4(ADGRA3):c.3871C>T (p.Pro1291Ser)	ADGRA3 (P1291S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999956	NM_145290.4(ADGRA3):c.3866A>G (p.Asn1289Ser)	ADGRA3 (N1289S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089587	NM_145290.4(ADGRA3):c.3862C>T (p.Gln1288Ter)	ADGRA3 (Q1288*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1551942	NM_145290.4(ADGRA3):c.3852C>T (p.Asn1284=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967357	NM_145290.4(ADGRA3):c.3847C>T (p.Leu1283Phe)	ADGRA3 (L1283F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419426	NM_145290.4(ADGRA3):c.3845G>A (p.Gly1282Asp)	ADGRA3 (G1282D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358060	NM_145290.4(ADGRA3):c.3845G>C (p.Gly1282Ala)	ADGRA3 (G1282A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1151496	NM_145290.4(ADGRA3):c.3843T>C (p.Tyr1281=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 941772	NM_145290.4(ADGRA3):c.3838T>C (p.Ser1280Pro)	ADGRA3 (S1280P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3003629	NM_145290.4(ADGRA3):c.3837A>C (p.Lys1279Asn)	ADGRA3 (K1279N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957241	NM_145290.4(ADGRA3):c.3830A>G (p.Gln1277Arg)	ADGRA3 (Q1277R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476324	NM_145290.4(ADGRA3):c.3827A>G (p.Asn1276Ser)	ADGRA3 (N1276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741050	NM_145290.4(ADGRA3):c.3826A>C (p.Asn1276His)	ADGRA3 (N1276H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1389358	NM_145290.4(ADGRA3):c.3814G>A (p.Val1272Ile)	ADGRA3 (V1272I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168462	NM_145290.4(ADGRA3):c.3810T>A (p.Ala1270=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2058250	NM_145290.4(ADGRA3):c.3794C>T (p.Ala1265Val)	ADGRA3 (A1265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346054	NM_145290.4(ADGRA3):c.3793G>A (p.Ala1265Thr)	ADGRA3 (A1265T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059732	NM_145290.4(ADGRA3):c.3791A>G (p.Asp1264Gly)	ADGRA3 (D1264G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969783	NM_145290.4(ADGRA3):c.3787A>C (p.Lys1263Gln)	ADGRA3 (K1263Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869411	NM_145290.4(ADGRA3):c.3781A>G (p.Ser1261Gly)	ADGRA3 (S1261G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095121	NM_145290.4(ADGRA3):c.3777C>G (p.Thr1259=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461584	NM_145290.4(ADGRA3):c.3770T>C (p.Val1257Ala)	ADGRA3 (V1257A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996227	NM_145290.4(ADGRA3):c.3767C>T (p.Pro1256Leu)	ADGRA3 (P1256L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933670	NM_145290.4(ADGRA3):c.3739C>T (p.Pro1247Ser)	ADGRA3 (P1247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306287	NM_145290.4(ADGRA3):c.3732C>G (p.Ser1244Arg)	ADGRA3 (S1244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1497129	NM_145290.4(ADGRA3):c.3728G>A (p.Cys1243Tyr)	ADGRA3 (C1243Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429261	NM_145290.4(ADGRA3):c.3727T>C (p.Cys1243Arg)	ADGRA3 (C1243R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853545	NM_145290.4(ADGRA3):c.3721G>A (p.Asp1241Asn)	ADGRA3 (D1241N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947577	NM_145290.4(ADGRA3):c.3714C>T (p.Asp1238=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 836404	NM_145290.4(ADGRA3):c.3712G>A (p.Asp1238Asn)	ADGRA3 (D1238N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466165	NM_145290.4(ADGRA3):c.3698A>G (p.Asn1233Ser)	ADGRA3 (N1233S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998682	NM_145290.4(ADGRA3):c.3691C>G (p.Gln1231Glu)	ADGRA3 (Q1231E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1608439	NM_145290.4(ADGRA3):c.3687G>A (p.Glu1229=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508863	NM_145290.4(ADGRA3):c.3679T>C (p.Tyr1227His)	ADGRA3 (Y1227H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026958	NM_145290.4(ADGRA3):c.3664A>G (p.Arg1222Gly)	ADGRA3 (R1222G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769629	NM_145290.4(ADGRA3):c.3662G>A (p.Arg1221Gln)	ADGRA3 (R1221Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2421973	NM_145290.4(ADGRA3):c.3653C>T (p.Ser1218Leu)	ADGRA3 (S1218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027649	NM_145290.4(ADGRA3):c.3644A>G (p.Glu1215Gly)	ADGRA3 (E1215G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2903853	NM_145290.4(ADGRA3):c.3642C>T (p.Asn1214=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508545	NM_145290.4(ADGRA3):c.3641A>C (p.Asn1214Thr)	ADGRA3 (N1214T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043834	NM_145290.4(ADGRA3):c.3638A>G (p.Asn1213Ser)	ADGRA3 (N1213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360849	NM_145290.4(ADGRA3):c.3632T>C (p.Leu1211Pro)	ADGRA3 (L1211P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668274	NM_145290.4(ADGRA3):c.3630G>T (p.Arg1210=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756420	NM_145290.4(ADGRA3):c.3630G>A (p.Arg1210=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1044967	NM_145290.4(ADGRA3):c.3629G>A (p.Arg1210Gln)	ADGRA3 (R1210Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022785	NM_145290.4(ADGRA3):c.3628C>T (p.Arg1210Trp)	ADGRA3 (R1210W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435659	NM_145290.4(ADGRA3):c.3623A>G (p.Lys1208Arg)	ADGRA3 (K1208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570119	NM_145290.4(ADGRA3):c.3615C>T (p.Gly1205=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510491	NM_145290.4(ADGRA3):c.3613G>A (p.Gly1205Ser)	ADGRA3 (G1205S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1623269	NM_145290.4(ADGRA3):c.3612C>T (p.Asn1204=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2316696	NM_145290.4(ADGRA3):c.3610A>G (p.Asn1204Asp)	ADGRA3 (N1204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1000306	NM_145290.4(ADGRA3):c.3606_3607delinsTT (p.Gln1203Ter)	ADGRA3 (Q1203*)	Indel (nonsense)	not provided	GUncertain significance
Select item 1034769	NM_145290.4(ADGRA3):c.3604G>A (p.Val1202Met)	ADGRA3 (V1202M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1637652	NM_145290.4(ADGRA3):c.3603C>T (p.Ser1201=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 937651	NM_145290.4(ADGRA3):c.3592G>A (p.Val1198Met)	ADGRA3 (V1198M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2418473	NM_145290.4(ADGRA3):c.3591C>T (p.Ser1197=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510136	NM_145290.4(ADGRA3):c.3590G>A (p.Ser1197Asn)	ADGRA3 (S1197N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169419	NM_145290.4(ADGRA3):c.3587C>G (p.Thr1196Arg)	ADGRA3 (T1196R)	Single nucleotide variant (missense variant)	ADGRA3-related condition +1 more	GBenign
Select item 942315	NM_145290.4(ADGRA3):c.3587C>T (p.Thr1196Met)	ADGRA3 (T1196M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 862953	NM_145290.4(ADGRA3):c.3586A>G (p.Thr1196Ala)	ADGRA3 (T1196A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548617	NM_145290.4(ADGRA3):c.3582C>G (p.Val1194=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461509	NM_145290.4(ADGRA3):c.3580G>A (p.Val1194Ile)	ADGRA3 (V1194I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554675	NM_145290.4(ADGRA3):c.3576C>T (p.Tyr1192=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655456	NM_145290.4(ADGRA3):c.3570T>C (p.Tyr1190=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485455	NM_145290.4(ADGRA3):c.3569A>G (p.Tyr1190Cys)	ADGRA3 (Y1190C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618907	NM_145290.4(ADGRA3):c.3558C>A (p.Val1186=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025285	NM_145290.4(ADGRA3):c.3545G>A (p.Ser1182Asn)	ADGRA3 (S1182N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117020	NM_145290.4(ADGRA3):c.3543A>C (p.Ala1181=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1472270	NM_145290.4(ADGRA3):c.3539G>A (p.Arg1180Gln)	ADGRA3 (R1180Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931875	NM_145290.4(ADGRA3):c.3538C>T (p.Arg1180Trp)	ADGRA3 (R1180W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 956965	NM_145290.4(ADGRA3):c.3509G>A (p.Arg1170His)	ADGRA3 (R1170H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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