DDHD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
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 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 1344284	NM_001160148.2(DDHD1):c.*3346AC[18]	DDHD1	Microsatellite (3 prime UTR variant)	Hereditary spastic paraplegia	GUncertain significance
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 3080724	NM_001160148.2(DDHD1):c.2698A>G (p.Ile900Val)	DDHD1 (I879V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309790	NM_001160148.2(DDHD1):c.2696C>T (p.Pro899Leu)	DDHD1 (P871L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199265	NM_001160148.2(DDHD1):c.2693A>T (p.Asp898Val)	DDHD1 (D898V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 3080722	NM_001160148.2(DDHD1):c.2686A>G (p.Asn896Asp)	DDHD1 (N875D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472374	NM_001160148.2(DDHD1):c.2684C>T (p.Pro895Leu)	DDHD1 (P867L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1062058	NM_001160148.2(DDHD1):c.2668G>C (p.Asp890His)	DDHD1 (D862H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 696302	NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)	DDHD1 (D862N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2771081	NM_001160148.2(DDHD1):c.2667C>T (p.His889=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2443005	NM_001160148.2(DDHD1):c.2662G>T (p.Glu888Ter)	DDHD1 (E860* +2 more)	Single nucleotide variant (nonsense)	Spasticity	GUncertain significance
Select item 1373107	NM_001160148.2(DDHD1):c.2654A>G (p.Tyr885Cys)	DDHD1 (Y857C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 374483	NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 1097951	NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 3080721	NM_001160148.2(DDHD1):c.2594C>T (p.Thr865Met)	DDHD1 (T837M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056059	NM_001160148.2(DDHD1):c.2577C>G (p.Arg859=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 387058	NM_001160148.2(DDHD1):c.2553C>G (p.Leu851=)	DDHD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 960413	NM_001160148.2(DDHD1):c.2552T>C (p.Leu851Pro)	DDHD1 (L830P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1007574	NM_001160148.2(DDHD1):c.2541del (p.Ile847fs)	DDHD1 (I819fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2079444	NM_001160148.2(DDHD1):c.2526G>A (p.Glu842=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 39674	NM_001160148.2(DDHD1):c.2522-1G>T	DDHD1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 28	GPathogenic
Select item 1911022	NM_001160148.2(DDHD1):c.2522-8C>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1567696	NM_001160148.2(DDHD1):c.2522-8C>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	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 2644242	NM_001160148.2(DDHD1):c.2508A>G (p.Lys836=)	DDHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080720	NM_001160148.2(DDHD1):c.2486C>T (p.Pro829Leu)	DDHD1 (P829L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486394	NM_001160148.2(DDHD1):c.2456C>T (p.Ser819Leu)	DDHD1 (S819L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 800955	NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys)	DDHD1 (R815K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 28	GLikely pathogenic
Select item 1212015	NM_001160148.2(DDHD1):c.2437+191T>C	DDHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731335	NM_001160148.2(DDHD1):c.2437+18T>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1645386	NM_001160148.2(DDHD1):c.2437+12C>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2133939	NM_001160148.2(DDHD1):c.2437+9A>T	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1626248	NM_001160148.2(DDHD1):c.2437+9A>C	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2080953	NM_001160148.2(DDHD1):c.2437+7T>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28 +1 more	GLikely benign
Select item 408872	NM_001160148.2(DDHD1):c.2432C>G (p.Ser811Cys)	DDHD1 (S811C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +2 more	GUncertain significance
Select item 2137740	NM_001160148.2(DDHD1):c.2427C>T (p.Leu809=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2060006	NM_001160148.2(DDHD1):c.2426T>A (p.Leu809His)	DDHD1 (L816H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
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 464309	NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)	DDHD1 (H803R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 938027	NM_001160148.2(DDHD1):c.2399C>T (p.Thr800Ile)	DDHD1 (T800I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 1435058	NM_001160148.2(DDHD1):c.2386G>A (p.Val796Ile)	DDHD1 (V803I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2719997	NM_001160148.2(DDHD1):c.2385C>T (p.Thr795=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 464308	NM_001160148.2(DDHD1):c.2380A>C (p.Thr794Pro)	DDHD1 (T794P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 3271188	NM_001160148.2(DDHD1):c.2359C>T (p.Pro787Ser)	DDHD1 (P794S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675540	NM_001160148.2(DDHD1):c.2358G>A (p.Lys786=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2153486	NM_001160148.2(DDHD1):c.2341A>G (p.Met781Val)	DDHD1 (M781V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2321747	NM_001160148.2(DDHD1):c.2339C>T (p.Ser780Leu)	DDHD1 (S780L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1491755	NM_001160148.2(DDHD1):c.2320T>C (p.Ser774Pro)	DDHD1 (S774P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 807113	NM_001160148.2(DDHD1):c.2300G>A (p.Arg767His)	DDHD1 (R774H +1 more)	Single nucleotide variant (missense variant)	not provided	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 1993339	NM_001160148.2(DDHD1):c.2290A>G (p.Arg764Gly)	DDHD1 (R764G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2543881	NM_001160148.2(DDHD1):c.2286C>A (p.Phe762Leu)	DDHD1 (F762L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155262	NM_001160148.2(DDHD1):c.2286C>T (p.Phe762=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1974950	NM_001160148.2(DDHD1):c.2283G>A (p.Leu761=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1344294	NM_001160148.2(DDHD1):c.2279T>C (p.Met760Thr)	DDHD1 (M760T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 573202	NM_001160148.2(DDHD1):c.2276G>A (p.Gly759Glu)	DDHD1 (G766E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 3080719	NM_001160148.2(DDHD1):c.2270T>G (p.Leu757Arg)	DDHD1 (L764R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2729529	NM_001160148.2(DDHD1):c.2262A>T (p.Gly754=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 1968438	NM_001160148.2(DDHD1):c.2257A>G (p.Ile753Val)	DDHD1 (I760V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1344293	NM_001160148.2(DDHD1):c.2247G>T (p.Gly749=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	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 2904863	NM_001160148.2(DDHD1):c.2245+7T>G	DDHD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 2141390	NM_001160148.2(DDHD1):c.2239A>G (p.Ile747Val)	DDHD1 (I754V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 1485768	NM_001160148.2(DDHD1):c.2211A>C (p.Glu737Asp)	DDHD1 (E744D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1344292	NM_001160148.2(DDHD1):c.2195G>A (p.Arg732His)	DDHD1 (R732H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2150975	NM_001160148.2(DDHD1):c.2194C>T (p.Arg732Cys)	DDHD1 (R732C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1443558	NM_001160148.2(DDHD1):c.2167A>G (p.Ser723Gly)	DDHD1 (S723G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 1083750	NM_001160148.2(DDHD1):c.2166A>G (p.Pro722=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28	GLikely benign
Select item 704467	NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)	DDHD1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 28 +1 more	GConflicting classifications of pathogenicity
Select item 2250683	NM_001160148.2(DDHD1):c.2129C>T (p.Thr710Ile)	DDHD1 (T710I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389646	NM_001160148.2(DDHD1):c.2128A>G (p.Thr710Ala)	DDHD1 (T710A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28 +1 more	GUncertain significance
Select item 1974506	NM_001160148.2(DDHD1):c.2123A>T (p.Glu708Val)	DDHD1 (E708V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1713332	NM_001160148.2(DDHD1):c.2097G>C (p.Lys699Asn)	DDHD1 (K699N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 2815247	NM_001160148.2(DDHD1):c.2087A>G (p.Glu696Gly)	DDHD1 (E703G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 1163947	NM_001160148.2(DDHD1):c.2063A>G (p.Asn688Ser)	DDHD1 (N688S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154658	NM_001160148.2(DDHD1):c.2051T>C (p.Ile684Thr)	DDHD1 (I684T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 28	GUncertain significance
Select item 3080718	NM_001160148.2(DDHD1):c.2045T>C (p.Val682Ala)	DDHD1 (V682A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331653	NM_001160148.2(DDHD1):c.2042C>T (p.Pro681Leu)	DDHD1 (P681L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 682212	NM_001160148.2(DDHD1):c.2031C>T (p.Ser677=)	DDHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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