ClinVar for Gene (Select 1621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270923	NM_000787.4(DBH):c.257T>A (p.Leu86Gln)	DBH (L86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270921	NM_000787.4(DBH):c.1651G>A (p.Val551Ile)	DBH, DBH-AS1 (V551I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3080170	NM_000787.4(DBH):c.871C>A (p.Arg291Ser)	DBH (R291S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080169	NM_000787.4(DBH):c.630C>A (p.Asp210Glu)	DBH (D210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080168	NM_000787.4(DBH):c.527C>T (p.Pro176Leu)	DBH (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080167	NM_000787.4(DBH):c.1778C>T (p.Thr593Ile)	DBH (T593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080166	NM_000787.4(DBH):c.1627C>T (p.Pro543Ser)	DBH, DBH-AS1 (P543S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080165	NM_000787.4(DBH):c.1603G>A (p.Val535Met)	DBH, DBH-AS1 (V535M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080164	NM_000787.4(DBH):c.1163G>A (p.Gly388Asp)	DBH (G388D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080163	NM_000787.4(DBH):c.1147G>A (p.Ala383Thr)	DBH (A383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3041559	NC_000009.12:g.133630108C>T	DBH	Single nucleotide variant	DBH-related disorder	GBenign
Select item 3019046	NM_000787.4(DBH):c.1192-16C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 3017811	NM_000787.4(DBH):c.633G>A (p.Ala211=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 3016529	NM_000787.4(DBH):c.1665G>A (p.Leu555=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 3016371	NM_000787.4(DBH):c.777C>A (p.Ala259=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 3014006	NM_000787.4(DBH):c.1563-18G>A	DBH, DBH-AS1	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 3013777	NM_000787.4(DBH):c.1059C>T (p.Tyr353=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 3013404	NM_000787.4(DBH):c.1374+14G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 3006823	NM_000787.4(DBH):c.487-8G>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 3003641	NM_000787.4(DBH):c.62T>G (p.Met21Arg)	DBH (M21R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2990999	NM_000787.4(DBH):c.1375-19C>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2989681	NM_000787.4(DBH):c.532C>A (p.Arg178=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2975950	NM_000787.4(DBH):c.583G>T (p.Val195Leu)	DBH (V195L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2968763	NM_000787.4(DBH):c.1795_1824dup (p.Thr608_Val609insSerGlnGlyArgSerProAlaGlyProThr)	DBH	Duplication (inframe_insertion)	Orthostatic hypotension 1	GUncertain significance
Select item 2964426	NM_000787.4(DBH):c.1375-17C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2960896	NM_000787.4(DBH):c.1335+9C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2957782	NM_000787.4(DBH):c.1335+11G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2918659	NM_000787.4(DBH):c.1116G>T (p.Thr372=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2915338	NM_000787.4(DBH):c.1419G>A (p.Arg473=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2912162	NM_000787.4(DBH):c.33C>T (p.Pro11=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2911704	NM_000787.4(DBH):c.1260G>A (p.Val420=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2903661	NM_000787.4(DBH):c.1723-18C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2897826	NM_000787.4(DBH):c.1499del (p.Leu500fs)	DBH, DBH-AS1 (L500fs)	Deletion (frameshift variant)	Orthostatic hypotension 1	GPathogenic
Select item 2897591	NM_000787.4(DBH):c.1773G>A (p.Glu591=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2896518	NM_000787.4(DBH):c.1794C>T (p.Thr598=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2894533	NM_000787.4(DBH):c.615G>A (p.Pro205=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2889688	NM_000787.4(DBH):c.1722+15G>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2879859	NM_000787.4(DBH):c.1242C>T (p.His414=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2872716	NM_000787.4(DBH):c.1722+11A>G	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2808526	NM_000787.4(DBH):c.1336-11G>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2806443	NM_000787.4(DBH):c.1485C>T (p.Tyr495=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2797417	NM_000787.4(DBH):c.1434+10C>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2788626	NM_000787.4(DBH):c.1270C>G (p.Leu424Val)	DBH (L424V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2779868	NM_000787.4(DBH):c.1758C>T (p.Ile586=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2761924	NM_000787.4(DBH):c.945del (p.Gly316fs)	DBH (G316fs)	Deletion (frameshift variant)	Orthostatic hypotension 1	GPathogenic
Select item 2758619	NM_000787.4(DBH):c.429G>C (p.Leu143=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2757215	NM_000787.4(DBH):c.1239_1242del (p.Thr413_His414insTer)	DBH	Microsatellite (frameshift variant)	Orthostatic hypotension 1	GPathogenic
Select item 2728857	NM_000787.4(DBH):c.1024+25_1024+27del	DBH	Microsatellite (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2716080	NM_000787.4(DBH):c.1192-6C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2715476	NM_000787.4(DBH):c.921+16C>G	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2715119	NM_000787.4(DBH):c.921+7G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2700907	NM_000787.4(DBH):c.1149C>A (p.Ala383=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2694572	NM_000787.4(DBH):c.1375-15T>C	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2684589	GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3	ADAMTSL2, DBH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2603133	NM_000787.4(DBH):c.467C>T (p.Pro156Leu)	DBH (P156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547178	NM_000787.4(DBH):c.968G>T (p.Gly323Val)	DBH (G323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541521	NM_000787.4(DBH):c.832C>T (p.His278Tyr)	DBH (H278Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531402	NM_000787.4(DBH):c.986G>A (p.Arg329His)	DBH (R329H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526315	NM_000787.4(DBH):c.1576G>A (p.Asp526Asn)	DBH, DBH-AS1 (D526N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480061	NM_000787.4(DBH):c.1831A>G (p.Ser611Gly)	DBH (S611G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469901	NM_000787.4(DBH):c.1754T>G (p.Val585Gly)	DBH (V585G)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GLikely benign
Select item 2459653	NM_000787.4(DBH):c.1165T>G (p.Tyr389Asp)	DBH (Y389D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457729	NM_000787.4(DBH):c.553G>A (p.Gly185Ser)	DBH (G185S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423395	NC_000009.11:g.(?_136501494)_(136501852_?)dup	DBH	Duplication	Orthostatic hypotension 1	GUncertain significance
Select item 2423394	NC_000009.11:g.(?_136501494)_(136523569_?)dup	DBH	Duplication	Orthostatic hypotension 1	GUncertain significance
Select item 2423393	NC_000009.11:g.(?_136501494)_(136505134_?)del	DBH	Deletion	Orthostatic hypotension 1	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2419586	NM_000787.4(DBH):c.744+5G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2416671	NM_000787.4(DBH):c.813C>T (p.Pro271=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2386226	NM_000787.4(DBH):c.1221C>G (p.Phe407Leu)	DBH (F407L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381442	NM_000787.4(DBH):c.1364C>T (p.Ser455Leu)	DBH (S455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355371	NM_000787.4(DBH):c.1417C>T (p.Arg473Trp)	DBH (R473W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2337866	NM_000787.4(DBH):c.7G>T (p.Ala3Ser)	DBH (A3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337739	NM_000787.4(DBH):c.1177A>G (p.Lys393Glu)	DBH (K393E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331327	NM_000787.4(DBH):c.290A>G (p.Asn97Ser)	DBH (N97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318236	NM_000787.4(DBH):c.1379A>T (p.Asp460Val)	DBH (D460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302079	NM_000787.4(DBH):c.968G>A (p.Gly323Glu)	DBH (G323E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297265	NM_000787.4(DBH):c.1156_1158del (p.Leu386del)	DBH (L386del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2285225	NM_000787.4(DBH):c.382C>T (p.Gln128Ter)	DBH (Q128*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2277120	NM_000787.4(DBH):c.772G>A (p.Glu258Lys)	DBH (E258K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274906	NM_000787.4(DBH):c.871C>T (p.Arg291Cys)	DBH (R291C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243252	NM_000787.4(DBH):c.461G>A (p.Cys154Tyr)	DBH (C154Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243151	NM_000787.4(DBH):c.146A>T (p.Tyr49Phe)	DBH (Y49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239974	NM_000787.4(DBH):c.1064C>G (p.Ala355Gly)	DBH (A355G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221715	NM_000787.4(DBH):c.1832G>A (p.Ser611Asn)	DBH (S611N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2211351	NM_000787.4(DBH):c.1592C>G (p.Pro531Arg)	DBH, DBH-AS1 (P531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202764	NM_000787.4(DBH):c.1191+24_1191+28dup	DBH	Duplication (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2201233	NM_000787.4(DBH):c.1024+19A>G	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2199880	NM_000787.4(DBH):c.183C>T (p.Leu61=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign

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