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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636912	NM_018245.3(OGDHL):c.2894G>A (p.Arg965His)	OGDHL (R566H +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GUncertain significance
Select item 3043968	NM_018245.3(OGDHL):c.2818G>A (p.Ala940Thr)	OGDHL (A541T +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 3048101	NM_018245.3(OGDHL):c.2742G>A (p.Thr914=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 710350	NM_018245.3(OGDHL):c.2667C>T (p.Phe889=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3051431	NM_018245.3(OGDHL):c.2640C>T (p.Ala880=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3041207	NM_018245.3(OGDHL):c.2629G>T (p.Ala877Ser)	OGDHL (A478S +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3056267	NM_018245.3(OGDHL):c.2628C>T (p.Ala876=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GBenign
Select item 3040480	NM_018245.3(OGDHL):c.2532A>C (p.Thr844=)	OGDHL	Single nucleotide variant (synonymous variant)	OGDHL-related disorder	GLikely benign
Select item 225031	NM_018245.3(OGDHL):c.2201T>C (p.Phe734Ser)	OGDHL (F734S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3060595	NM_018245.3(OGDHL):c.1910C>T (p.Thr637Met)	OGDHL (T238M +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 3048533	NM_018245.3(OGDHL):c.1889C>T (p.Ala630Val)	OGDHL (A231V +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 722657	NM_018245.3(OGDHL):c.1868C>G (p.Ser623Cys)	OGDHL (S224C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 774681	NM_018245.3(OGDHL):c.1861+7T>C	OGDHL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3047411	NM_018245.3(OGDHL):c.1297-4G>A	OGDHL	Single nucleotide variant (intron variant)	OGDHL-related disorder	GLikely benign
Select item 738260	NM_018245.3(OGDHL):c.1224T>C (p.Tyr408=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder +1 more	GBenign/Likely benign
Select item 3051044	NM_018245.3(OGDHL):c.1194C>T (p.Asp398=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 787075	NM_018245.3(OGDHL):c.1090C>T (p.Leu364=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder +1 more	GBenign
Select item 3049152	NM_018245.3(OGDHL):c.1057A>C (p.Ile353Leu)	OGDHL (I144L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3049211	NM_018245.3(OGDHL):c.672G>A (p.Lys224=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GLikely benign
Select item 3059593	NM_018245.3(OGDHL):c.564C>T (p.Leu188=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GBenign
Select item 3033620	NM_018245.3(OGDHL):c.492T>G (p.Leu164=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GLikely benign
Select item 3042082	NM_018245.3(OGDHL):c.192G>A (p.Gln64=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3039370	NM_018245.3(OGDHL):c.129C>T (p.Ser43=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3050206	NM_018245.3(OGDHL):c.111G>A (p.Pro37=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3039405	NM_018245.3(OGDHL):c.54C>T (p.Leu18=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GBenign

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Items: 25