METTL5[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685946	NM_014168.4(METTL5):c.591+2T>G	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GPathogenic
Select item 689363	NM_014168.4(METTL5):c.571_572del (p.Lys191fs)	METTL5 (K191fs)	Deletion (frameshift variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic
Select item 2290995	NM_014168.4(METTL5):c.570C>G (p.Tyr190Ter)	METTL5 (Y190*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2443569	NM_014168.4(METTL5):c.547C>T (p.Arg183Ter)	METTL5 (R183*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 917596	NM_014168.4(METTL5):c.541+1G>C	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 2466544	NM_014168.4(METTL5):c.491A>C (p.His164Pro)	METTL5 (H164P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489277	NM_014168.4(METTL5):c.446C>G (p.Ala149Gly)	METTL5 (A149G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125606	NM_014168.4(METTL5):c.416T>C (p.Met139Thr)	METTL5 (M139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494402	NM_014168.4(METTL5):c.414T>G (p.Asp138Glu)	METTL5 (D138E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236168	NM_014168.4(METTL5):c.406+5G>A	METTL5	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 72	GUncertain significance
Select item 1804912	NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC	METTL5	Insertion (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 861902	NM_014168.4(METTL5):c.380C>G (p.Pro127Arg)	METTL5 (P127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334819	NM_014168.4(METTL5):c.364dup (p.Thr122fs)	METTL5 (T122fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 983495	NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)	METTL5 (D121G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689379	NM_014168.4(METTL5):c.344_345del (p.Arg115fs)	METTL5 (R115fs)	Deletion (frameshift variant)	Intellectual disability, severe	GPathogenic
Select item 2443588	NM_014168.4(METTL5):c.325G>A (p.Val109Met)	METTL5 (V109M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380697	NM_014168.4(METTL5):c.256G>A (p.Ala86Thr)	METTL5 (A86T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370100	NM_014168.4(METTL5):c.253G>C (p.Asp85His)	METTL5 (D85H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398890	NM_014168.4(METTL5):c.228G>C (p.Leu76Phe)	METTL5 (L76F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065390	NM_014168.4(METTL5):c.225-1G>T	METTL5	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 1327662	NM_014168.4(METTL5):c.224+5G>A	METTL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3064180	NM_014168.4(METTL5):c.224+1G>A	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GPathogenic
Select item 694598	NM_014168.4(METTL5):c.182G>A (p.Gly61Asp)	METTL5 (G61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049994	NM_014168.4(METTL5):c.141T>C (p.Tyr47=)	METTL5	Single nucleotide variant (synonymous variant)	METTL5-related disorder	GBenign
Select item 2443177	NM_014168.4(METTL5):c.109+9G>A	METTL5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2443178	NM_014168.4(METTL5):c.103A>G (p.Ile35Val)	METTL5 (I35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298336	NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)	METTL5 (Q15*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 72	GUncertain significance

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Items: 27