"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 734414	NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)	DDHD2 (G76C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 701940	NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)	DDHD2 (G76D)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
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 1344302	NM_015214.3(DDHD2):c.381C>T (p.Pro127=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344303	NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)	DDHD2 (S131R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +1 more	GConflicting classifications of pathogenicity
Select item 1344305	NM_015214.3(DDHD2):c.411+6C>T	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
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 1344306	NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)	DDHD2 (Q256* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 54 +1 more	GPathogenic/Likely pathogenic
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 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 1344307	NM_015214.3(DDHD2):c.929A>G (p.Tyr310Cys)	DDHD2 (Y280C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
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 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 645719	NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu)	DDHD2 (S347L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1344298	NM_015214.3(DDHD2):c.1157A>C (p.Asp386Ala)	DDHD2 (D356A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 810277	NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys)	DDHD2 (G449C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +3 more	GUncertain significance
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 697370	NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)	DDHD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344299	NM_015214.3(DDHD2):c.1574A>G (p.Tyr525Cys)	DDHD2 (Y495C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
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 935792	NM_015214.3(DDHD2):c.1720+6T>A	DDHD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 54 +1 more	GUncertain significance
Select item 1344301	NM_015214.3(DDHD2):c.1903G>A (p.Glu635Lys)	DDHD2 (E605K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
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

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Items: 25