"GeneDx"[submitter] AND "TH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +8 more	GConflicting classifications of pathogenicity
Select item 255531	NM_000207.3(INS):c.*9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +5 more	GBenign/Likely benign
Select item 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +8 more	GBenign/Likely benign
Select item 304057	NM_000207.3(INS):c.36G>A (p.Ala12=)	INS, INS-IGF2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 10 +7 more	GBenign/Likely benign
Select item 36399	NM_000207.3(INS):c.-9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GBenign/Likely benign
Select item 304059	NM_000207.3(INS):c.-17-6T>A	INS, INS-IGF2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +4 more	GBenign
Select item 304060	NM_000207.3(INS):c.-18+4_-18+5insTTGC	INS, INS-IGF2 +1 more	Insertion (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +4 more	GConflicting classifications of pathogenicity
Select item 1274135	NC_000011.10:g.2163897C>G	TH	Single nucleotide variant	not provided	GBenign
Select item 304062	NM_000360.4(TH):c.*277G>A	INS, TH	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 304066	NM_000360.4(TH):c.1401C>T (p.Asp467=)	INS, TH	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 695523	NM_000360.4(TH):c.1398C>T (p.Ile466=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 304068	NM_000360.4(TH):c.1368C>T (p.Ser456=)	TH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426863	NM_000360.4(TH):c.1361C>A (p.Pro454His)	TH (P485H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 1216173	NM_000360.4(TH):c.1335-95T>C	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196592	NM_000360.4(TH):c.1334+303C>T	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164243	NM_000360.4(TH):c.1334+127T>C	TH	Single nucleotide variant (intron variant)	Autosomal recessive DOPA responsive dystonia +1 more	GBenign
Select item 1208075	NM_000360.4(TH):c.1334+38C>T	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304569	NM_000360.4(TH):c.1318G>T (p.Ala440Ser)	TH (A440S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 304069	NM_000360.4(TH):c.1278G>A (p.Thr426=)	INS, TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +4 more	GBenign/Likely benign
Select item 526212	NM_000360.4(TH):c.1229G>A (p.Arg410Gln)	TH (R441Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 573670	NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	TH (R441W +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1209131	NM_000360.4(TH):c.1201-75G>A	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282467	NM_000360.4(TH):c.1200+83A>T	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259272	NM_000360.4(TH):c.1200+53G>A	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263251	NM_000360.4(TH):c.1200+9C>T	INS, TH	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 304070	NM_000360.4(TH):c.1170C>G (p.Ala390=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 1303322	NM_000360.4(TH):c.1154T>C (p.Val385Ala)	TH (V416A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196414	NM_000360.4(TH):c.1105-48G>A	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180574	NM_000360.4(TH):c.1105-78A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 378729	NM_000360.4(TH):c.1103C>T (p.Thr368Met)	TH (T399M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1677075	NM_000360.4(TH):c.1061C>T (p.Ala354Val)	TH (A354V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1189309	NM_000360.4(TH):c.1048-109G>A	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185443	NM_000360.4(TH):c.1048-110A>C	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1270904	NM_000360.4(TH):c.1048-151G>T	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290741	NM_000360.4(TH):c.1048-154G>T	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295587	NM_000360.4(TH):c.1048-167A>C	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264672	NM_000360.4(TH):c.1048-189G>A	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175615	NM_000360.4(TH):c.1048-194G>C	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373544	NM_000360.4(TH):c.1047G>C (p.Gln349His)	TH (Q349H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 304073	NM_000360.4(TH):c.1035G>T (p.Ala345=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GBenign
Select item 263250	NM_000360.4(TH):c.977+8C>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1308867	NM_000360.4(TH):c.923T>G (p.Phe308Cys)	TH (F308C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442690	NM_000360.4(TH):c.818A>G (p.Glu273Gly)	TH (E273G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391909	NM_000360.4(TH):c.799G>C (p.Asp267His)	TH (D298H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 551155	NM_000360.4(TH):c.787G>C (p.Gly263Arg)	TH (G294R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 263258	NM_000360.4(TH):c.720G>A (p.Lys240=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GBenign
Select item 1303321	NM_000360.4(TH):c.706T>G (p.Tyr236Asp)	TH (Y236D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180575	NM_000360.4(TH):c.696-126C>G	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180576	NM_000360.4(TH):c.696-138G>A	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261252	NM_000360.4(TH):c.696-174T>C	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180577	NM_000360.4(TH):c.695+99G>A	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192921	NM_000360.4(TH):c.695+39G>A	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 242255	NM_000360.4(TH):c.684G>A (p.Glu228=)	TH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 422210	NM_000360.4(TH):c.656T>C (p.Ile219Thr)	TH (I250T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1481526	NM_000360.4(TH):c.649G>A (p.Asp217Asn)	TH (D244N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 948892	NM_000360.4(TH):c.646G>A (p.Gly216Ser)	TH (G243S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 284674	NM_000360.4(TH):c.645C>T (p.His215=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +2 more	GConflicting classifications of pathogenicity
Select item 1193555	NM_000360.4(TH):c.645-74A>T	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206872	NM_000360.4(TH):c.644+80A>G	TH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 304077	NM_000360.4(TH):c.627C>G (p.Ile209Met)	TH (I209M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12325	NM_000360.4(TH):c.614T>C (p.Leu205Pro)	TH (L236P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GPathogenic/Likely pathogenic
Select item 12327	NM_000360.4(TH):c.605G>A (p.Arg202His)	TH (R233H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 696505	NM_000360.4(TH):c.594G>T (p.Val198=)	TH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 581934	NM_000360.4(TH):c.585G>A (p.Ser195=)	TH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 417039	NM_000360.4(TH):c.579C>T (p.Gly193=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +1 more	GBenign/Likely benign
Select item 263257	NM_000360.4(TH):c.577-22C>T	TH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 651415	NM_000360.4(TH):c.576+6_576+14del	TH	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497884	NM_000360.4(TH):c.550G>A (p.Asp184Asn)	TH (D215N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +2 more	GUncertain significance
Select item 1302305	NM_000360.4(TH):c.488-17C>G	TH	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1262329	NM_000360.4(TH):c.488-97dup	TH	Duplication (intron variant)	not provided	GBenign
Select item 242254	NM_000360.4(TH):c.487+3G>A	TH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1313540	NM_000360.4(TH):c.458A>G (p.Glu153Gly)	TH (E153G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 526208	NM_000360.4(TH):c.452T>C (p.Val151Ala)	TH (V182A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1313515	NM_000360.4(TH):c.446G>T (p.Arg149Leu)	TH (R149L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194153	NM_000360.4(TH):c.412C>T (p.Arg138Ter)	TH (R169* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2147253	NM_000360.4(TH):c.409C>T (p.Arg137Cys)	TH (R137C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 304078	NM_000360.4(TH):c.406G>A (p.Val136Met)	TH (V136M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 304079	NM_000360.4(TH):c.398G>A (p.Arg133His)	TH (R164H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 643112	NM_000360.4(TH):c.391T>G (p.Phe131Val)	TH (F158V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449110	NM_000360.4(TH):c.364C>T (p.Arg122Ter)	TH (R153* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 426864	NM_000360.4(TH):c.362C>T (p.Pro121Leu)	TH (P152L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GConflicting classifications of pathogenicity
Select item 990009	NM_000360.4(TH):c.344C>T (p.Thr115Ile)	TH (T115I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 263255	NM_000360.4(TH):c.313-38_313-35del	TH	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1180578	NM_000360.4(TH):c.313-88G>A	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 526231	NM_000360.4(TH):c.312+289G>C	TH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 374732	NM_000360.4(TH):c.292C>T (p.Arg98Ter)	TH (R129* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive DOPA responsive dystonia +1 more	GPathogenic/Likely pathogenic
Select item 374421	NM_000360.4(TH):c.288G>C (p.Leu96=)	TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +1 more	GLikely benign
Select item 263254	NM_000360.4(TH):c.267G>A (p.Arg89=)	TH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 304083	NM_000360.4(TH):c.263C>T (p.Pro88Leu)	TH (P88L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3363589	NM_000360.4(TH):c.251T>C (p.Leu84Pro)	TH (L111P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21866	NM_000360.4(TH):c.241G>A (p.Val81Met)	TH (V112M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +3 more	GBenign/Likely benign
Select item 1303848	NM_000360.4(TH):c.220GAG[1] (p.Glu75del)	TH (E102del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 263253	NM_000360.4(TH):c.210T>C (p.Ala70=)	TH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 263252	NM_000360.4(TH):c.186G>A (p.Ser62=)	TH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1303819	NM_000360.4(TH):c.155C>T (p.Ala52Val)	TH (A52V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 455993	NM_000360.4(TH):c.110G>A (p.Arg37His)	TH (R68H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia +1 more	GUncertain significance
Select item 1242320	NM_000360.4(TH):c.91-53G>T	TH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185444	NM_000360.4(TH):c.91-54A>G	TH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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