"OPHN1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536254	NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)	OPHN1 (P798S)	Single nucleotide variant (missense variant)	OPHN1-related disorder +1 more	GUncertain significance
Select item 378314	NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)	OPHN1 (R788W)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 3041301	NM_002547.3(OPHN1):c.2189C>T (p.Pro730Leu)	OPHN1 (P730L)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 437439	NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)	OPHN1 (D723G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2355359	NM_002547.3(OPHN1):c.2134C>T (p.Arg712Trp)	OPHN1 (R712W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2294028	NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)	OPHN1 (P702H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 159475	NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)	OPHN1 (M693I)	Single nucleotide variant (missense variant)	OPHN1-related disorder +4 more	GBenign/Likely benign
Select item 94074	NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)	OPHN1 (L677M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3061554	NM_002547.3(OPHN1):c.1687-10T>C	OPHN1	Single nucleotide variant (intron variant)	OPHN1-related disorder	GLikely benign
Select item 1280437	NM_002547.3(OPHN1):c.1506T>A (p.Leu502=)	OPHN1	Single nucleotide variant (synonymous variant)	OPHN1-related disorder +2 more	GBenign/Likely benign
Select item 2632208	NM_002547.3(OPHN1):c.1378G>C (p.Val460Leu)	OPHN1 (V460L)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 3030984	NM_002547.3(OPHN1):c.1138+4A>G	OPHN1	Single nucleotide variant (intron variant)	OPHN1-related disorder	GUncertain significance
Select item 2637016	NM_002547.3(OPHN1):c.931C>T (p.Gln311Ter)	OPHN1 (Q311*)	Single nucleotide variant (nonsense)	OPHN1-related disorder	GLikely pathogenic
Select item 2906465	NM_002547.3(OPHN1):c.903G>A (p.Thr301=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 211795	NM_002547.3(OPHN1):c.702+8T>C	OPHN1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2632700	NM_002547.3(OPHN1):c.467A>G (p.Lys156Arg)	OPHN1 (K156R)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 707725	NM_002547.3(OPHN1):c.237T>C (p.Asp79=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign