"DOCK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 542623	NM_004946.3(DOCK2):c.90G>C (p.Gln30His)	DOCK2 (Q30H)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +2 more	GLikely benign
Select item 662674	NM_004946.3(DOCK2):c.360G>A (p.Met120Ile)	DOCK2 (M120I)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GUncertain significance
Select item 542616	NM_004946.3(DOCK2):c.631A>G (p.Met211Val)	DOCK2 (M211V)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GBenign/Likely benign
Select item 3041097	NM_004946.3(DOCK2):c.660C>A (p.Thr220=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
Select item 476019	NM_004946.3(DOCK2):c.753G>A (p.Thr251=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GBenign/Likely benign
Select item 784699	NM_004946.3(DOCK2):c.979+6G>A	DOCK2, LOC126807589	Single nucleotide variant (intron variant)	DOCK2-related disorder +1 more	GBenign/Likely benign
Select item 745171	NM_004946.3(DOCK2):c.1316A>G (p.Asn439Ser)	DOCK2 (N439S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 475999	NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)	DOCK2 (A454T)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1662206	NM_004946.3(DOCK2):c.1437T>C (p.Val479=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GLikely benign
Select item 3057400	NM_004946.3(DOCK2):c.1716A>T (p.Arg572=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
Select item 476003	NM_004946.3(DOCK2):c.1767T>G (p.Val589=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 542631	NM_004946.3(DOCK2):c.2587A>G (p.Lys863Glu)	DOCK2 (K863E)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GLikely benign
Select item 967479	NM_004946.3(DOCK2):c.2704-3C>T	DOCK2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 542611	NM_004946.3(DOCK2):c.2858C>T (p.Ser953Phe)	DOCK2 (S953F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1110838	NM_004946.3(DOCK2):c.3756+9A>T	DOCK2	Single nucleotide variant (intron variant)	DOCK2-related disorder +1 more	GLikely benign
Select item 542633	NM_004946.3(DOCK2):c.3836C>T (p.Thr1279Met)	DOCK2 (T1279M)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GLikely benign
Select item 476013	NM_004946.3(DOCK2):c.3945T>C (p.Tyr1315=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 779630	NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser)	DOCK2 (A1401S)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045113	NM_004946.3(DOCK2):c.4449G>A (p.Glu1483=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder	GLikely benign
Select item 542639	NM_004946.3(DOCK2):c.5425A>G (p.Thr1809Ala)	DOCK2 (T1809A)	Single nucleotide variant (missense variant +1 more)	DOCK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 542628	NM_004946.3(DOCK2):c.5445G>A (p.Ser1815=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder +1 more	GBenign
Select item 791754	NM_004946.3(DOCK2):c.5484G>A (p.Thr1828=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2-related disorder +2 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22