ClinVar for MedGen (Select 376107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366627	NM_201525.4(ADGRG1):c.1046G>C (p.Trp349Ser)	ADGRG1 (W174S +5 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GLikely pathogenic
Select item 3362665	NM_201525.4(ADGRG1):c.781G>T (p.Glu261Ter)	ADGRG1 (E209* +4 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 3068288	NM_201525.4(ADGRG1):c.352_452del (p.Ser118fs)	ADGRG1 (S118fs +2 more)	Deletion (frameshift variant +2 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2627974	NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter)	ADGRG1 (W143* +2 more)	Single nucleotide variant (nonsense +2 more)	Bilateral frontoparietal polymicrogyria	GLikely pathogenic
Select item 2585124	NM_201525.4(ADGRG1):c.1716_1722dup (p.Val575fs)	ADGRG1 (V574fs +7 more)	Duplication (frameshift variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2585034	NM_201525.4(ADGRG1):c.1505T>C (p.Phe502Ser)	ADGRG1 (F338S +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2585027	NM_201525.4(ADGRG1):c.1574T>G (p.Val525Gly)	ADGRG1 (V350G +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2583167	NM_201525.4(ADGRG1):c.64+5G>T	ADGRG1	Single nucleotide variant (intron variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2579668	NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu)	ADGRG1 (P75L)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 2573550	NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)	ADGRG1 (W311* +7 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 2572480	NM_201525.4(ADGRG1):c.308T>C (p.Leu103Pro)	ADGRG1 (L103P +2 more)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1878521	NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)	ADGRG1 (Q163fs +4 more)	Duplication (frameshift variant)	Bilateral frontoparietal polymicrogyria +1 more	GLikely pathogenic
Select item 1805061	NM_201525.4(ADGRG1):c.1232G>A (p.Cys411Tyr)	ADGRG1 (C236Y +5 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1694450	NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter)	ADGRG1 (Q142* +3 more)	Single nucleotide variant (nonsense +1 more)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 1687320	NM_201525.4(ADGRG1):c.1148C>T (p.Thr383Ile)	ADGRG1 (T208I +5 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1679832	NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter)	ADGRG1 (W478* +7 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1522425	NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys)	ADGRG1 (E321K +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1369485	NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter)	ADGRG1 (R321* +7 more)	Single nucleotide variant (nonsense)	Bilateral frontoparietal polymicrogyria +1 more	GPathogenic
Select item 1300175	NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr)	ADGRG1 (H206Y +5 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GLikely pathogenic
Select item 1256159	NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr)	ADGRG1 (P112T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1195943	NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val)	ADGRG1 (A64V +1 more)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +1 more	GUncertain significance
Select item 1195942	NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr)	ADGRG1 (A183T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1184695	NM_201525.4(ADGRG1):c.1167+77C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184694	NM_201525.4(ADGRG1):c.621-184A>C	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1156292	NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146141	NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133499	NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133221	NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130907	NM_201525.4(ADGRG1):c.462C>T (p.Ala154=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1127268	NM_201525.4(ADGRG1):c.831G>A (p.Thr277=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123362	NM_201525.4(ADGRG1):c.840G>A (p.Arg280=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030011	NM_201525.4(ADGRG1):c.709G>T (p.Val237Leu)	ADGRG1 (V185L +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1030010	NM_201525.4(ADGRG1):c.1016C>T (p.Pro339Leu)	ADGRG1 (P287L +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1017436	NM_201525.4(ADGRG1):c.157G>C (p.Asp53His)	ADGRG1 (D53H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989971	NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met)	ADGRG1 (V220M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989970	NM_201525.4(ADGRG1):c.1170C>A (p.Val390=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988720	NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala)	ADGRG1 (P346A +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +1 more	GUncertain significance
Select item 984712	NM_201525.4(ADGRG1):c.64+5G>A	ADGRG1	Single nucleotide variant (intron variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 978166	NM_201525.4(ADGRG1):c.707C>T (p.Thr236Met)	ADGRG1 (T184M +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 977829	NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)	ADGRG1 (S467F +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GLikely pathogenic
Select item 934237	NM_201525.4(ADGRG1):c.215del (p.Pro72fs)	ADGRG1 (P72fs +1 more)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 888183	NM_201525.4(ADGRG1):c.*928G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 888182	NM_201525.4(ADGRG1):c.*918C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 888181	NM_201525.4(ADGRG1):c.*910T>C	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 888180	NM_201525.4(ADGRG1):c.*888C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 888179	NM_201525.4(ADGRG1):c.*877C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 888178	NM_201525.4(ADGRG1):c.*840A>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 888177	NM_201525.4(ADGRG1):c.*832T>C	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign
Select item 888176	NM_201525.4(ADGRG1):c.*819G>C	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 888122	NM_201525.4(ADGRG1):c.2048C>T (p.Ser683Leu)	ADGRG1 (S514L +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888121	NM_201525.4(ADGRG1):c.1787A>G (p.His596Arg)	ADGRG1 (H427R +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 888061	NM_201525.4(ADGRG1):c.797C>T (p.Ser266Leu)	ADGRG1 (S266L +4 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 888060	NM_201525.4(ADGRG1):c.765G>A (p.Gln255=)	ADGRG1	Single nucleotide variant (synonymous variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 888059	NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)	ADGRG1 (R259W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888058	NM_201525.4(ADGRG1):c.726C>T (p.Pro242=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886917	NM_201525.4(ADGRG1):c.*791C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 886916	NM_201525.4(ADGRG1):c.*768T>G	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886915	NM_201525.4(ADGRG1):c.*648C>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886914	NM_201525.4(ADGRG1):c.*551G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886913	NM_201525.4(ADGRG1):c.*549C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 886912	NM_201525.4(ADGRG1):c.*420C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886911	NM_201525.4(ADGRG1):c.*414G>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886910	NM_201525.4(ADGRG1):c.*388G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886848	NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu)	ADGRG1 (M413L +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 886847	NM_201525.4(ADGRG1):c.1646G>A (p.Gly549Asp)	ADGRG1 (G374D +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886846	NM_201525.4(ADGRG1):c.1597G>A (p.Val533Met)	ADGRG1 (V358M +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria +1 more	GUncertain significance
Select item 886845	NM_201525.4(ADGRG1):c.1568T>A (p.Phe523Tyr)	ADGRG1 (F522Y +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 886844	NM_201525.4(ADGRG1):c.1563C>T (p.Pro521=)	ADGRG1	Single nucleotide variant (synonymous variant)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 886785	NM_201525.4(ADGRG1):c.708G>A (p.Thr236=)	ADGRG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886784	NM_201525.4(ADGRG1):c.695G>A (p.Arg232Gln)	ADGRG1 (R232Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 886783	NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys)	ADGRG1 (E54K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885981	NM_201525.4(ADGRG1):c.*1437A>G	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign
Select item 885980	NM_201525.4(ADGRG1):c.*1372T>C	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885979	NM_201525.4(ADGRG1):c.*1365A>G	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 885978	NM_201525.4(ADGRG1):c.*1336T>C	ADGRG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 885977	NM_201525.4(ADGRG1):c.*1284G>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885976	NM_201525.4(ADGRG1):c.*1220C>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign
Select item 885911	NM_201525.4(ADGRG1):c.*332G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885910	NM_201525.4(ADGRG1):c.*304C>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GLikely benign
Select item 885909	NM_201525.4(ADGRG1):c.*301C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign
Select item 885908	NM_201525.4(ADGRG1):c.*250G>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885907	NM_201525.4(ADGRG1):c.*221C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885906	NM_201525.4(ADGRG1):c.*196C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885905	NM_201525.4(ADGRG1):c.*189G>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GLikely benign
Select item 885904	NM_201525.4(ADGRG1):c.*154G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 885851	NM_201525.4(ADGRG1):c.1511C>G (p.Thr504Ser)	ADGRG1 (T335S +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885850	NM_201525.4(ADGRG1):c.1462G>A (p.Gly488Ser)	ADGRG1 (G319S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 885849	NM_201525.4(ADGRG1):c.1415G>C (p.Ser472Thr)	ADGRG1 (S297T +7 more)	Single nucleotide variant (missense variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885772	NM_201525.4(ADGRG1):c.322C>T (p.Arg108Cys)	ADGRG1 (R108C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 885771	NM_201525.4(ADGRG1):c.183C>T (p.Ser61=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 885770	NM_201525.4(ADGRG1):c.87G>A (p.Arg29=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	Bilateral frontoparietal polymicrogyria +1 more	GConflicting classifications of pathogenicity
Select item 885061	NM_201525.4(ADGRG1):c.*1156G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885060	NM_201525.4(ADGRG1):c.*1129G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885059	NM_201525.4(ADGRG1):c.*1105G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885058	NM_201525.4(ADGRG1):c.*1069G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GBenign
Select item 885057	NM_201525.4(ADGRG1):c.*1058C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GLikely benign
Select item 885056	NM_201525.4(ADGRG1):c.*1046A>G	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885055	NM_201525.4(ADGRG1):c.*1007G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria +1 more	GBenign
Select item 885054	NM_201525.4(ADGRG1):c.*943C>T	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 885001	NM_201525.4(ADGRG1):c.*139G>A	ADGRG1	Single nucleotide variant (3 prime UTR variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance

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