ClinVar for MedGen (Select 761341) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068647	NM_015214.3(DDHD2):c.1887_1890dup (p.Asp631Ter)	DDHD2 (D601* +1 more)	Duplication (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 3068415	NM_015214.3(DDHD2):c.819_820del (p.His273fs)	DDHD2 (H243fs +1 more)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 3005607	NM_015214.3(DDHD2):c.2055-17A>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2992620	NM_015214.3(DDHD2):c.966A>G (p.Thr322=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2964272	NM_015214.3(DDHD2):c.1462-10C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2912142	NM_015214.3(DDHD2):c.1249-20A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2887328	NM_015214.3(DDHD2):c.321A>G (p.Ala107=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2868147	NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)	DDHD2 (I162del)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2861889	NM_015214.3(DDHD2):c.1057+9dup	DDHD2	Duplication (intron variant)	Hereditary spastic paraplegia 54	GBenign
Select item 2860135	NM_015214.3(DDHD2):c.1299A>G (p.Pro433=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2833689	NM_015214.3(DDHD2):c.220+20T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2786304	NM_015214.3(DDHD2):c.1462-7del	DDHD2	Deletion (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2782869	NM_015214.3(DDHD2):c.2070A>G (p.Thr690=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2777957	NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)	DDHD2 (C113F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2736434	NM_015214.3(DDHD2):c.390G>A (p.Glu130=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2736001	NM_015214.3(DDHD2):c.618T>C (p.His206=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2734766	NM_015214.3(DDHD2):c.1345-18C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2723635	NM_015214.3(DDHD2):c.1342A>G (p.Met448Val)	DDHD2 (M418V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2721016	NM_015214.3(DDHD2):c.1518A>T (p.Gly506=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2714389	NM_015214.3(DDHD2):c.1155A>G (p.Gly385=)	DDHD2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2713580	NM_015214.3(DDHD2):c.1891+20T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2694153	NM_015214.3(DDHD2):c.453_454del (p.Lys152fs)	DDHD2 (K152fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2692326	NM_015214.3(DDHD2):c.712+5G>A	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2692325	NM_015214.3(DDHD2):c.304T>C (p.Tyr102His)	DDHD2 (Y102H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2439662	NM_015214.3(DDHD2):c.1901delinsTCTGTGGCAGTTAA (p.Thr634delinsIleCysGlySerTer)	DDHD2	Indel (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 2426105	NC_000008.10:g.(?_38117538)_(38961219_?)dup	ADAM9, DDHD2 +9 more	Duplication	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Hereditary spastic paraplegia 54 +3 more	GUncertain significance
Select item 2416451	NM_015214.3(DDHD2):c.1892-16G>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2416406	NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)	DDHD2 (Y99S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2415558	NM_015214.3(DDHD2):c.1067T>C (p.Ile356Thr)	DDHD2 (I326T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2318381	NM_015214.3(DDHD2):c.1402G>A (p.Glu468Lys)	DDHD2 (E438K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2202619	NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)	DDHD2 (W242* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2202017	NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)	DDHD2 (K152R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2200633	NM_015214.3(DDHD2):c.1345-3T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2200601	NM_015214.3(DDHD2):c.1344+15C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2198563	NM_015214.3(DDHD2):c.1415G>T (p.Ser472Ile)	DDHD2 (S472I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194795	NM_015214.3(DDHD2):c.1305G>C (p.Lys435Asn)	DDHD2 (K435N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2190427	NM_015214.3(DDHD2):c.986G>A (p.Arg329Gln)	DDHD2 (R329Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2188521	NM_015214.3(DDHD2):c.412-11T>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2178402	NM_015214.3(DDHD2):c.1159A>G (p.Thr387Ala)	DDHD2 (T387A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2164600	NM_015214.3(DDHD2):c.1721-11A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2162370	NM_015214.3(DDHD2):c.849-16T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2161213	NM_015214.3(DDHD2):c.1461+6T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2156106	NM_015214.3(DDHD2):c.1481G>A (p.Arg494Gln)	DDHD2 (R464Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2153718	NM_015214.3(DDHD2):c.1783C>A (p.Arg595=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2151531	NM_015214.3(DDHD2):c.1720+18A>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2144482	NM_015214.3(DDHD2):c.622+13G>A	DDHD2 (R212H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2144101	NM_015214.3(DDHD2):c.1176A>G (p.Glu392=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2143047	NM_015214.3(DDHD2):c.502-7G>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2142731	NM_015214.3(DDHD2):c.638T>C (p.Ile213Thr)	DDHD2 (I213T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2140520	NM_015214.3(DDHD2):c.1651G>C (p.Val551Leu)	DDHD2 (V521L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2139581	NM_015214.3(DDHD2):c.1462-19T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2134320	NM_015214.3(DDHD2):c.1673A>G (p.Glu558Gly)	DDHD2 (E528G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2121989	NM_015214.3(DDHD2):c.540T>C (p.Asp180=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2081852	NM_015214.3(DDHD2):c.1891+19A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2078184	NM_015214.3(DDHD2):c.335G>T (p.Arg112Leu)	DDHD2 (R112L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2073704	NM_015214.3(DDHD2):c.662A>G (p.His221Arg)	DDHD2 (H221R)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2071295	NM_015214.3(DDHD2):c.411+21_411+22del	DDHD2	Deletion (intron variant)	Hereditary spastic paraplegia 54	GBenign
Select item 2069726	NM_015214.3(DDHD2):c.1039A>G (p.Ile347Val)	DDHD2 (I347V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2067256	NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)	DDHD2 (Q66*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54	GPathogenic
Select item 2062130	NM_015214.3(DDHD2):c.1058-17T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2058487	NM_015214.3(DDHD2):c.508G>A (p.Val170Met)	DDHD2 (V170M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2053850	NM_015214.3(DDHD2):c.2096A>G (p.Tyr699Cys)	DDHD2 (Y669C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2053143	NM_015214.3(DDHD2):c.707A>C (p.Gln236Pro)	DDHD2 (Q236P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 2050107	NM_015214.3(DDHD2):c.2079C>T (p.Leu693=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2046173	NM_015214.3(DDHD2):c.1387A>G (p.Ile463Val)	DDHD2 (I433V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2045634	NM_015214.3(DDHD2):c.2072T>C (p.Val691Ala)	DDHD2 (V661A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2043705	NM_015214.3(DDHD2):c.1770G>A (p.Leu590=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2042107	NM_015214.3(DDHD2):c.221-19C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2040339	NM_015214.3(DDHD2):c.386C>T (p.Ser129Leu)	DDHD2 (S129L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2035605	NM_015214.3(DDHD2):c.1618-11T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2025715	NM_015214.3(DDHD2):c.1617+1G>T	DDHD2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 2025193	NM_015214.3(DDHD2):c.411+4T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 2024475	NM_015214.3(DDHD2):c.1404G>A (p.Glu468=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 2016205	NM_015214.3(DDHD2):c.1499A>G (p.Glu500Gly)	DDHD2 (E470G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1990510	NM_015214.3(DDHD2):c.502-19C>A	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1977956	NM_015214.3(DDHD2):c.868C>T (p.Leu290=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1975747	NM_015214.3(DDHD2):c.368A>G (p.Asn123Ser)	DDHD2 (N123S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1972264	NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)	DDHD2 (G314D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1970142	NM_015214.3(DDHD2):c.30G>C (p.Gln10His)	DDHD2 (Q10H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1968325	NM_015214.3(DDHD2):c.453G>A (p.Lys151=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1957873	NM_015214.3(DDHD2):c.1168C>A (p.Leu390Ile)	DDHD2 (L360I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1944051	NM_015214.3(DDHD2):c.1365G>C (p.Pro455=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1944049	NM_015214.3(DDHD2):c.1359_1364del (p.Ala454_Pro455del)	DDHD2	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 54	GUncertain significance
Select item 1936443	NM_015214.3(DDHD2):c.695G>A (p.Arg232Gln)	DDHD2 (R232Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1929261	NM_015214.3(DDHD2):c.1773A>G (p.Leu591=)	DDHD2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1928008	NM_015214.3(DDHD2):c.1306A>C (p.Lys436Gln)	DDHD2 (K406Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 1914439	NM_015214.3(DDHD2):c.1058-16_1058-14del	DDHD2	Microsatellite (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1709490	NM_015214.3(DDHD2):c.1217_1218del (p.Ile405_Phe406insTer)	DDHD2	Deletion (nonsense +1 more)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 1696332	NM_015214.3(DDHD2):c.1126-2A>G	DDHD2	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 54	GLikely pathogenic
Select item 1664970	NM_015214.3(DDHD2):c.1618-6A>G	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1655004	NM_015214.3(DDHD2):c.2054+10_2054+12del	DDHD2	Microsatellite (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1630343	NM_015214.3(DDHD2):c.1095A>G (p.Lys365=)	DDHD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1604366	NM_015214.3(DDHD2):c.1618-9C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1600564	NM_015214.3(DDHD2):c.1348A>G (p.Ile450Val)	DDHD2 (I420V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54	GBenign
Select item 1590751	NM_015214.3(DDHD2):c.996A>G (p.Thr332=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1585147	NM_015214.3(DDHD2):c.220+18C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1580503	NM_015214.3(DDHD2):c.1317C>T (p.Asn439=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1558179	NM_015214.3(DDHD2):c.2055-5T>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54	GLikely benign
Select item 1544966	NM_015214.3(DDHD2):c.876C>T (p.Ser292=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54	GLikely benign

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