"GeneDx"[submitter] AND "DDHD2"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 523988	NM_015214.3(DDHD2):c.94_101dup (p.Ser35fs)	DDHD2 (S35fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1216423	NM_015214.3(DDHD2):c.220+34A>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574560	NM_015214.3(DDHD2):c.221-11A>G	DDHD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 210840	NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)	DDHD2 (G76Y)	Indel (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 503937	NM_015214.3(DDHD2):c.331_344del (p.Arg111fs)	DDHD2 (R111fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 679494	NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54 +3 more	GBenign/Likely benign
Select item 1335858	NM_015214.3(DDHD2):c.411+200_411+201dup	DDHD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1272223	NM_015214.3(DDHD2):c.411+201dup	DDHD2	Duplication (intron variant)	not provided	GBenign
Select item 1216004	NM_015214.3(DDHD2):c.501+172C>T	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128893	NM_015214.3(DDHD2):c.557C>T (p.Thr186Met)	DDHD2 (T186M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 385430	NM_015214.3(DDHD2):c.558G>A (p.Thr186=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 810276	NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)	DDHD2 (R190*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668479	NM_015214.3(DDHD2):c.622+12C>T	DDHD2 (R212C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1212414	NM_015214.3(DDHD2):c.622+260T>A	DDHD2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1214481	NM_015214.3(DDHD2):c.623-262G>A	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201588	NM_015214.3(DDHD2):c.623-57A>T	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513160	NM_015214.3(DDHD2):c.795A>G (p.Val265=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1230009	NM_015214.3(DDHD2):c.849-21T>A	DDHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 473076	NM_015214.3(DDHD2):c.864A>C (p.Ile288=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GLikely benign
Select item 696127	NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)	DDHD2 (T270I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GConflicting classifications of pathogenicity
Select item 383022	NM_015214.3(DDHD2):c.912T>A (p.Ile304=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 516316	NM_015214.3(DDHD2):c.930C>T (p.Tyr310=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54 +2 more	GLikely benign
Select item 452548	NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)	DDHD2 (R329* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 381854	NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 391679	NM_015214.3(DDHD2):c.1058-13A>G	DDHD2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 473070	NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu)	DDHD2 (Q364E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 508684	NM_015214.3(DDHD2):c.1125+20A>C	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54 +1 more	GLikely benign
Select item 668116	NM_015214.3(DDHD2):c.1125+263T>C	DDHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199943	NM_015214.3(DDHD2):c.1126-146C>T	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 210838	NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)	DDHD2 (D376G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GLikely benign
Select item 386289	NM_015214.3(DDHD2):c.1168C>T (p.Leu390=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54 +2 more	GBenign/Likely benign
Select item 511274	NM_015214.3(DDHD2):c.1188A>G (p.Lys396=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1274946	NM_015214.3(DDHD2):c.1249-235dup	DDHD2	Duplication (intron variant)	not provided	GBenign
Select item 1189130	NM_015214.3(DDHD2):c.1249-235del	DDHD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1202525	NM_015214.3(DDHD2):c.1264C>T (p.Arg422Ter)	DDHD2 (R392* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 430398	NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val)	DDHD2 (A461V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +2 more	GUncertain significance
Select item 503722	NM_015214.3(DDHD2):c.1386dup (p.Ile463fs)	DDHD2 (I463fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 507257	NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434907	NM_015214.3(DDHD2):c.1587G>A (p.Thr529=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 54 +2 more	GBenign/Likely benign
Select item 512713	NM_015214.3(DDHD2):c.1617+6C>T	DDHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1683832	NM_015214.3(DDHD2):c.1618-63dup	DDHD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1223645	NM_015214.3(DDHD2):c.1618-81C>A	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201428	NM_015214.3(DDHD2):c.1618-63del	DDHD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1273698	NM_015214.3(DDHD2):c.1618-25T>C	DDHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203372	NM_015214.3(DDHD2):c.1751T>C (p.Met584Thr)	DDHD2 (M554T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212263	NM_015214.3(DDHD2):c.1892-127T>C	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 39679	NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	DDHD2 (D660H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +5 more	GPathogenic/Likely pathogenic
Select item 473072	NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)	DDHD2 (C683S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 387155	NM_015214.3(DDHD2):c.2054+13T>C	DDHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1200034	NM_015214.3(DDHD2):c.*26+201G>C	DDHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390009	NM_015214.3(DDHD2):c.*28C>T	DDHD2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 253803	GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3	C8orf86, RAB11FIP1 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 55