ClinVar for MedGen (Select 1648402) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (intron 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 2469901	NM_000787.4(DBH):c.1754T>G (p.Val585Gly)	DBH (V585G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 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
Select item 2195694	NM_000787.4(DBH):c.326C>T (p.Thr109Ile)	DBH (T109I)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2193729	NM_000787.4(DBH):c.1191+10G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2192709	NM_000787.4(DBH):c.1360G>C (p.Val454Leu)	DBH (V454L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2189736	NM_000787.4(DBH):c.1722+18C>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2189211	NM_000787.4(DBH):c.726T>C (p.Ser242=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2188310	NM_000787.4(DBH):c.1714C>T (p.Arg572Cys)	DBH, DBH-AS1 (R572C)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2187569	NM_000787.4(DBH):c.1084G>A (p.Ala362Thr)	DBH (A362T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2187536	NM_000787.4(DBH):c.470A>C (p.Lys157Thr)	DBH (K157T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2178690	NM_000787.4(DBH):c.814G>A (p.Glu272Lys)	DBH (E272K)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2177715	NM_000787.4(DBH):c.1336-17G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2177490	NM_000787.4(DBH):c.609C>T (p.Pro203=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2176555	NM_000787.4(DBH):c.1278G>A (p.Arg426=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2174077	NM_000787.4(DBH):c.1048C>T (p.Arg350Cys)	DBH (R350C)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2166420	NM_000787.4(DBH):c.1646G>T (p.Arg549Leu)	DBH, DBH-AS1 (R549L)	Single nucleotide variant (missense variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2165189	NM_000787.4(DBH):c.1722+5G>A	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2163711	NM_000787.4(DBH):c.1328A>G (p.His443Arg)	DBH (H443R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161148	NM_000787.4(DBH):c.1393T>A (p.Ser465Thr)	DBH (S465T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2159177	NM_000787.4(DBH):c.630C>T (p.Asp210=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2155828	NM_000787.4(DBH):c.1435-14C>T	DBH, DBH-AS1	Single nucleotide variant (intron variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2151619	NM_000787.4(DBH):c.1715G>A (p.Arg572His)	DBH, DBH-AS1 (R572H)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2151514	NM_000787.4(DBH):c.279C>T (p.Gly93=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2149424	NM_000787.4(DBH):c.337G>T (p.Ala113Ser)	DBH (A113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148478	NM_000787.4(DBH):c.486+14G>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2143992	NM_000787.4(DBH):c.1204_1206inv (p.Ser402Gly)	DBH (S402G)	Inversion (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2142096	NM_000787.4(DBH):c.236G>A (p.Arg79Gln)	DBH (R79Q)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2139470	NM_000787.4(DBH):c.237G>A (p.Arg79=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2134288	NM_000787.4(DBH):c.923C>T (p.Ala308Val)	DBH (A308V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2122096	NM_000787.4(DBH):c.671C>T (p.Pro224Leu)	DBH (P224L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2113300	NM_000787.4(DBH):c.1336-4C>G	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2106918	NM_000787.4(DBH):c.1379A>G (p.Asp460Gly)	DBH (D460G)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2102975	NM_000787.4(DBH):c.575T>C (p.Leu192Pro)	DBH (L192P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2101693	NM_000787.4(DBH):c.745-14_745-13del	DBH	Deletion (intron variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2085891	NM_000787.4(DBH):c.921+4C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2085712	NM_000787.4(DBH):c.808G>A (p.Ala270Thr)	DBH (A270T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2084060	NM_000787.4(DBH):c.981T>C (p.Tyr327=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2083122	NM_000787.4(DBH):c.342C>T (p.Asp114=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2081181	NM_000787.4(DBH):c.343G>A (p.Ala115Thr)	DBH (A115T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2079784	NM_000787.4(DBH):c.487-9C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2078250	NM_000787.4(DBH):c.1676C>T (p.Ala559Val)	DBH, DBH-AS1 (A559V)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2075722	NM_000787.4(DBH):c.744+5G>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2075143	NM_000787.4(DBH):c.532C>T (p.Arg178Trp)	DBH (R178W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2074748	NM_000787.4(DBH):c.638C>G (p.Thr213Ser)	DBH (T213S)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2074034	NM_000787.4(DBH):c.745-14C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2073125	NM_000787.4(DBH):c.1805G>A (p.Arg602Gln)	DBH (R602Q)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2072137	NM_000787.4(DBH):c.1138C>T (p.Arg380Trp)	DBH (R380W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2069384	NM_000787.4(DBH):c.1115C>T (p.Thr372Met)	DBH (T372M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2068894	NM_000787.4(DBH):c.573G>A (p.Gly191=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 2064678	NM_000787.4(DBH):c.1677G>A (p.Ala559=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign

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