"DOCK7-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 762509	NM_001367561.1(DOCK7):c.6381-3dup	DOCK7	Duplication (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 475168	NM_001367561.1(DOCK7):c.6381-6dup	DOCK7	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 771085	NM_001367561.1(DOCK7):c.6213-5C>G	DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder +1 more	GLikely benign
Select item 2633706	NM_001367561.1(DOCK7):c.6080del (p.Gly2027fs)	DOCK7 (G1985fs +5 more)	Deletion (frameshift variant)	DOCK7-related disorder	GLikely pathogenic
Select item 475165	NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)	DOCK7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 475160	NM_001367561.1(DOCK7):c.5250G>A (p.Ala1750=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 725951	NM_001367561.1(DOCK7):c.4827G>A (p.Gln1609=)	DOCK7	Single nucleotide variant (synonymous variant)	DOCK7-related disorder +1 more	GLikely benign
Select item 1089850	NM_001367561.1(DOCK7):c.4801C>T (p.Leu1601=)	DOCK7	Single nucleotide variant (synonymous variant)	DOCK7-related disorder +1 more	GLikely benign
Select item 771268	NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=)	DOCK7	Single nucleotide variant (synonymous variant)	DOCK7-related disorder +2 more	GLikely benign
Select item 541927	NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)	DOCK7 (T1281M +1 more)	Single nucleotide variant (missense variant)	DOCK7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 475142	NM_001367561.1(DOCK7):c.3781+5C>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GConflicting classifications of pathogenicity
Select item 447276	NM_001367561.1(DOCK7):c.3300+8A>G	DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 475135	NM_001367561.1(DOCK7):c.2828C>T (p.Ser943Phe)	DOCK7 (S943F)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 3038243	NM_001367561.1(DOCK7):c.1872-10_1872-9del	DOCK7	Deletion (intron variant)	DOCK7-related disorder	GBenign
Select item 3041233	NM_001367561.1(DOCK7):c.1801-1544A>T	DOCK7	Single nucleotide variant (synonymous variant +1 more)	DOCK7-related disorder	GLikely benign
Select item 3035727	NM_001367561.1(DOCK7):c.1801-1585C>T	DOCK7 (L614F)	Single nucleotide variant (missense variant +1 more)	DOCK7-related disorder	GLikely benign
Select item 3058367	NM_001367561.1(DOCK7):c.1683-12066T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder	GLikely benign
Select item 218580	NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)	DOCK7 (K487R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 580518	NM_001367561.1(DOCK7):c.886-8T>C	DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder +1 more	GLikely benign
Select item 1161959	NM_001367561.1(DOCK7):c.690C>T (p.Asn230=)	DOCK7	Single nucleotide variant (synonymous variant)	DOCK7-related disorder +1 more	GLikely benign
Select item 475123	NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser)	DOCK7 (N42S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

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Items: 21