9289[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 884842	NM_005682.7(ADGRG1):c.-227C>A	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral frontoparietal polymicrogyria	GLikely benign
Select item 884843	NM_005682.7(ADGRG1):c.-213G>A	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 884844	NM_005682.7(ADGRG1):c.-197G>A	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 511676	NM_005682.7(ADGRG1):c.-155A>G	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 668218	NM_005682.7(ADGRG1):c.-154+8A>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 884845	NM_005682.7(ADGRG1):c.-154+9C>T	ADGRG1	Single nucleotide variant (intron variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 1254855	NM_201525.4(ADGRG1):c.-118C>G	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1227704	NM_201525.4(ADGRG1):c.-36+53A>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183718	NM_201525.4(ADGRG1):c.-36+77T>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296045	NM_201525.4(ADGRG1):c.-36+91_-36+96del	ADGRG1	Microsatellite (intron variant)	not provided	GBenign
Select item 1295857	NM_201525.4(ADGRG1):c.-36+102G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295202	NM_201525.4(ADGRG1):c.-36+113A>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296044	NM_201525.4(ADGRG1):c.-36+119_-36+120del	ADGRG1	Deletion (intron variant)	not provided	GBenign
Select item 1175599	NM_201525.4(ADGRG1):c.-36+123T>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233511	NM_201525.4(ADGRG1):c.-36+137_-36+140del	ADGRG1	Deletion (intron variant)	not provided	GBenign
Select item 1246748	NM_201525.4(ADGRG1):c.-36+145_-36+146del	ADGRG1	Microsatellite (intron variant)	not provided	GBenign
Select item 1233631	NM_201525.4(ADGRG1):c.-36+147T>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254765	NM_201525.4(ADGRG1):c.-36+151A>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260783	NM_201525.4(ADGRG1):c.-36+163_-36+198del	ADGRG1	Deletion (intron variant)	not provided	GBenign
Select item 1235508	NM_201525.4(ADGRG1):c.-36+183_-36+186del	ADGRG1	Microsatellite (intron variant)	not provided	GBenign
Select item 1242367	NM_201525.4(ADGRG1):c.-36+219C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679870	NM_005682.7(ADGRG1):c.-153-2381C>T	ADGRG1	Single nucleotide variant	not provided	GBenign
Select item 127079	NM_201525.4(ADGRG1):c.-36+10587_-36+10601del	ADGRG1	Microsatellite (intron variant)	not provided	GPathogenic/Likely pathogenic
Select item 1480844	NM_201525.4(ADGRG1):c.-36+10576G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821643	NM_201525.4(ADGRG1):c.-36+10587C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997993	NM_201525.4(ADGRG1):c.-36+10592del	ADGRG1	Deletion (intron variant)	not provided	GLikely benign
Select item 1270916	NM_201525.4(ADGRG1):c.-35-10705A>G	ADGRG1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1253526	NM_201525.4(ADGRG1):c.-35-10423G>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271096	NM_201525.4(ADGRG1):c.-35-10403G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230383	NM_201525.4(ADGRG1):c.-35-8727C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 884846	NM_201525.4(ADGRG1):c.-35-8657C>T	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 137492	NM_201525.4(ADGRG1):c.-35-8646A>C	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 884847	NM_201525.4(ADGRG1):c.-35-8595C>T	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	Bilateral frontoparietal polymicrogyria	GLikely benign
Select item 884848	NM_201525.4(ADGRG1):c.-35-8590T>C	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 516895	NM_201525.4(ADGRG1):c.-35-8550T>C	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 511044	NM_201525.4(ADGRG1):c.-35-8529C>A	ADGRG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1267684	NM_201525.4(ADGRG1):c.-35-8412A>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213266	NM_201525.4(ADGRG1):c.-35-277A>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280958	NM_201525.4(ADGRG1):c.-35-268C>G	ADGRG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211706	NM_201525.4(ADGRG1):c.-35-182C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158611	NM_201525.4(ADGRG1):c.-11G>A	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 189231	NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)	ADGRG1 (Q4*)	Single nucleotide variant (nonsense +2 more)	Bilateral frontoparietal polymicrogyria	GPathogenic
Select item 3021034	NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)	ADGRG1 (S5*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 585948	NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)	ADGRG1 (S5L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1094562	NM_201525.4(ADGRG1):c.15G>T (p.Ser5=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 511938	NM_201525.4(ADGRG1):c.15G>A (p.Ser5=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2990289	NM_201525.4(ADGRG1):c.24G>A (p.Gln8=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 585950	NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)	ADGRG1 (T9M)	Single nucleotide variant (missense variant +2 more)	Polymicrogyria, bilateral perisylvian, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 196416	NM_201525.4(ADGRG1):c.27G>A (p.Thr9=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2752800	NM_201525.4(ADGRG1):c.31C>T (p.Leu11=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1141135	NM_201525.4(ADGRG1):c.33G>C (p.Leu11=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1546436	NM_201525.4(ADGRG1):c.36C>T (p.Phe12=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1403351	NM_201525.4(ADGRG1):c.37del (p.Leu13fs)	ADGRG1 (L13fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1304834	NM_201525.4(ADGRG1):c.41T>C (p.Leu14Pro)	ADGRG1 (L14P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2110280	NM_201525.4(ADGRG1):c.42G>A (p.Leu14=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2030874	NM_201525.4(ADGRG1):c.46C>T (p.Leu16=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2841768	NM_201525.4(ADGRG1):c.51C>G (p.Leu17=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1122338	NM_201525.4(ADGRG1):c.51C>T (p.Leu17=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2742594	NM_201525.4(ADGRG1):c.57G>A (p.Leu19=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2109026	NM_201525.4(ADGRG1):c.57G>T (p.Leu19=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1664388	NM_201525.4(ADGRG1):c.57G>C (p.Leu19=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 639515	NM_201525.4(ADGRG1):c.59del (p.Val20fs)	ADGRG1 (V20fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1468218	NM_201525.4(ADGRG1):c.64+5del	ADGRG1	Deletion (intron variant)	not provided	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 984712	NM_201525.4(ADGRG1):c.64+5G>A	ADGRG1	Single nucleotide variant (intron variant)	Bilateral frontoparietal polymicrogyria	GUncertain significance
Select item 2880290	NM_201525.4(ADGRG1):c.64+9T>C	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1149674	NM_201525.4(ADGRG1):c.64+10C>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984189	NM_201525.4(ADGRG1):c.64+11C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 158635	NM_201525.4(ADGRG1):c.64+15G>T	ADGRG1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2898692	NM_201525.4(ADGRG1):c.64+16G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2151502	NM_201525.4(ADGRG1):c.64+17G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187217	NM_201525.4(ADGRG1):c.64+41G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218974	NM_201525.4(ADGRG1):c.65-250C>T	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223810	NM_201525.4(ADGRG1):c.65-249G>A	ADGRG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201234	NM_201525.4(ADGRG1):c.65-230del	ADGRG1	Deletion (intron variant)	not provided	GLikely benign
Select item 3021847	NM_201525.4(ADGRG1):c.65-18C>T	ADGRG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2757983	NM_201525.4(ADGRG1):c.65-15C>T	ADGRG1 (A22V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 384470	NM_201525.4(ADGRG1):c.66T>G (p.Gly22=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 3271655	NM_201525.4(ADGRG1):c.67G>A (p.Ala23Thr)	ADGRG1 (A28T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 932678	NM_201525.4(ADGRG1):c.72C>T (p.His24=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2098811	NM_201525.4(ADGRG1):c.78G>A (p.Arg26=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2861662	NM_201525.4(ADGRG1):c.96del (p.Arg33fs)	ADGRG1 (R38fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1154098	NM_201525.4(ADGRG1):c.96T>C (p.Phe32=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 287194	NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys)	ADGRG1 (R33C +1 more)	Single nucleotide variant (missense variant +2 more)	Bilateral frontoparietal polymicrogyria +2 more	GConflicting classifications of pathogenicity
Select item 2077969	NM_201525.4(ADGRG1):c.98G>A (p.Arg33His)	ADGRG1 (R38H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2137834	NM_201525.4(ADGRG1):c.105C>A (p.Cys35Ter)	ADGRG1 (C40* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2105806	NM_201525.4(ADGRG1):c.105C>T (p.Cys35=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1083328	NM_201525.4(ADGRG1):c.108C>T (p.Ser36=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 739447	NM_201525.4(ADGRG1):c.111G>A (p.Gln37=)	ADGRG1	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2859373	NM_201525.4(ADGRG1):c.112C>G (p.Arg38Gly)	ADGRG1 (R38G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 5829	NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)	ADGRG1 (R38W +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 862927	NM_201525.4(ADGRG1):c.113G>A (p.Arg38Gln)	ADGRG1 (R38Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1128994	NM_201525.4(ADGRG1):c.114G>C (p.Arg38=)	ADGRG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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