"GeneDx"[submitter] AND "DDHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 1183899	NM_001160148.2(DDHD1):c.*155AAG[1]	DDHD1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1218404	NM_001160148.2(DDHD1):c.*156dup	DDHD1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1198656	NM_001160148.2(DDHD1):c.*134A>G	DDHD1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 382967	NM_001160148.2(DDHD1):c.*16A>G	DDHD1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1182240	NM_001160148.2(DDHD1):c.7_8del	DDHD1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1255133	NM_001160148.2(DDHD1):c.*2CT[2]	DDHD1	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 387058	NM_001160148.2(DDHD1):c.2553C>G (p.Leu851=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1250921	NM_001160148.2(DDHD1):c.2522-60_2522-59del	DDHD1	Deletion (intron variant)	not provided	GBenign
Select item 1234735	NM_001160148.2(DDHD1):c.2522-194T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247460	NM_001160148.2(DDHD1):c.2522-244del	DDHD1	Deletion (intron variant)	not provided	GBenign
Select item 1217700	NM_001160148.2(DDHD1):c.2521+210G>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672495	NM_001160148.2(DDHD1):c.2521+187T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237693	NM_001160148.2(DDHD1):c.2521+174T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255463	NM_001160148.2(DDHD1):c.2521+10del	DDHD1	Deletion (intron variant)	Hereditary spastic paraplegia 28 +1 more	GBenign
Select item 1204190	NM_001160148.2(DDHD1):c.2444G>T (p.Arg815Ile)	DDHD1 (R815I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1212015	NM_001160148.2(DDHD1):c.2437+191T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307281	NM_001160148.2(DDHD1):c.2408A>T (p.His803Leu)	DDHD1 (H803L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 373562	NM_001160148.2(DDHD1):c.2299C>T (p.Arg767Cys)	DDHD1 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 668115	NM_001160148.2(DDHD1):c.2246-301C>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200682	NM_001160148.2(DDHD1):c.2245+284G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213333	NM_001160148.2(DDHD1):c.2245+113G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226805	NM_001160148.2(DDHD1):c.2245+103T>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278385	NM_001160148.2(DDHD1):c.2245+53dup	DDHD1	Duplication (intron variant)	not provided	GBenign
Select item 682212	NM_001160148.2(DDHD1):c.2031C>T (p.Ser677=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1293057	NM_001160148.2(DDHD1):c.1993-21A>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193159	NM_001160148.2(DDHD1):c.1993-45G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679273	NM_001160148.2(DDHD1):c.1993-176T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239523	NM_001160148.2(DDHD1):c.1993-327T>G	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195639	NM_001160148.2(DDHD1):c.1992+291C>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201054	NM_001160148.2(DDHD1):c.1992+25T>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235698	NM_001160148.2(DDHD1):c.1992+22T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507887	NM_001160148.2(DDHD1):c.1992+13A>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28 +1 more	GLikely benign
Select item 580952	NM_001160148.2(DDHD1):c.1895G>A (p.Arg632His)	DDHD1 (R632H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391795	NM_001160148.2(DDHD1):c.1890G>A (p.Ala630=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +3 more	GBenign/Likely benign
Select item 1235908	NM_001160148.2(DDHD1):c.1843-48G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255131	NM_001160148.2(DDHD1):c.1843-61A>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254958	NM_001160148.2(DDHD1):c.1843-83G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196219	NM_001160148.2(DDHD1):c.1842+84G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391323	NM_001160148.2(DDHD1):c.1794C>T (p.His598=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 238600	NM_001160148.2(DDHD1):c.1780GAA[1] (p.Glu595del)	DDHD1 (E595del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1182002	NM_001160148.2(DDHD1):c.1767-127C>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273375	NM_001160148.2(DDHD1):c.1767-305G>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300518	NM_001160148.2(DDHD1):c.1766+183C>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2503254	NM_001160148.2(DDHD1):c.1755_1758delinsTAACA (p.Thr586fs)	DDHD1 (T586fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 379963	NM_001160148.2(DDHD1):c.1758T>A (p.Thr586=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +2 more	GBenign
Select item 422933	NM_001160148.2(DDHD1):c.1754dup (p.Thr586fs)	DDHD1 (T593fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 28 +2 more	GPathogenic/Likely pathogenic
Select item 514595	NM_001160148.2(DDHD1):c.1743T>C (p.Asp581=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2374802	NM_001160148.2(DDHD1):c.1646G>A (p.Gly549Asp)	DDHD1 (G556D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371170	NM_001160148.2(DDHD1):c.1624A>G (p.Ile542Val)	DDHD1 (I542V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800518	NM_001160148.2(DDHD1):c.1603T>G (p.Ser535Ala)	DDHD1 (S535A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304833	NM_001160148.2(DDHD1):c.1529T>C (p.Leu510Pro)	DDHD1 (L510P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 380535	NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 1270396	NM_001160148.2(DDHD1):c.1504-204G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197179	NM_001160148.2(DDHD1):c.1504-279del	DDHD1	Deletion (intron variant)	not provided	GLikely benign
Select item 238598	NM_001160148.2(DDHD1):c.1503+10A>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28 +2 more	GBenign/Likely benign
Select item 420715	NM_001160148.2(DDHD1):c.1397-5del	DDHD1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1264980	NM_001160148.2(DDHD1):c.1397-50T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210949	NM_001160148.2(DDHD1):c.1397-181dup	DDHD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1191583	NM_001160148.2(DDHD1):c.1397-251C>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257131	NM_001160148.2(DDHD1):c.1396+323del	DDHD1	Deletion (intron variant)	not provided	GBenign
Select item 679272	NM_001160148.2(DDHD1):c.1396+210T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200529	NM_001160148.2(DDHD1):c.1396+85G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194959	NM_001160148.2(DDHD1):c.1289+214G>A	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 972955	NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg)	DDHD1 (K433R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508754	NM_001160148.2(DDHD1):c.1218C>T (p.Thr406=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 415255	NM_001160148.2(DDHD1):c.1191A>G (p.Thr397=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1187246	NM_001160148.2(DDHD1):c.1141+166_1141+167del	DDHD1	Deletion (intron variant)	not provided	GLikely benign
Select item 382077	NM_001160148.2(DDHD1):c.1056C>T (p.His352=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 676115	NM_001160148.2(DDHD1):c.1013-128A>G	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239934	NM_001160148.2(DDHD1):c.1012+965CTT[2]	DDHD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1187455	NM_001160148.2(DDHD1):c.1012+716C>T	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193780	NM_001160148.2(DDHD1):c.1012+619C>A	DDHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 507253	NM_001160148.2(DDHD1):c.1012+613A>T	DDHD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1286425	NM_001160148.2(DDHD1):c.1012+297T>G	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208928	NM_001160148.2(DDHD1):c.1012+118dup	DDHD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1211618	NM_001160148.2(DDHD1):c.1012+87_1012+89del	DDHD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 382602	NM_001160148.2(DDHD1):c.1008A>G (p.Lys336=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1222249	NM_001160148.2(DDHD1):c.839-145T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265847	NM_001160148.2(DDHD1):c.839-201T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235591	NM_001160148.2(DDHD1):c.838+239G>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177724	NM_001160148.2(DDHD1):c.838+101G>T	LOC130055658, DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512656	NM_001160148.2(DDHD1):c.838+14C>T	DDHD1, LOC130055658	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28 +1 more	GLikely benign
Select item 384202	NM_001160148.2(DDHD1):c.831C>T (p.Tyr277=)	LOC130055658, DDHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1254555	NM_001160148.2(DDHD1):c.513C>G (p.Phe171Leu)	DDHD1 (F171L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 380446	NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 381452	NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)	DDHD1 (G150C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1311754	NM_001160148.2(DDHD1):c.395G>T (p.Gly132Val)	DDHD1 (G132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379962	NM_001160148.2(DDHD1):c.354C>T (p.His118=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +2 more	GBenign
Select item 695810	NM_001160148.2(DDHD1):c.325GGC[8] (p.Gly109_Gly112dup)	DDHD1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 415257	NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)	DDHD1	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 221131	NM_001160148.2(DDHD1):c.325GGC[6] (p.Gly111_Gly112dup)	DDHD1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 1209452	NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup)	DDHD1	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 379961	NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala)	DDHD1 (G106A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 379960	NM_001160148.2(DDHD1):c.273C>T (p.Phe91=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 382070	NM_001160148.2(DDHD1):c.204G>A (p.Ala68=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 664302	NM_001160148.2(DDHD1):c.184G>A (p.Glu62Lys)	DDHD1 (E62K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 699780	NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)	DDHD1 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 391433	NM_001160148.2(DDHD1):c.159C>T (p.Asp53=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 415256	NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity

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