YTHDF2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 2610291	NM_016258.3(YTHDF2):c.209T>C (p.Leu70Ser)	YTHDF2 (L20S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382017	NM_016258.3(YTHDF2):c.254A>T (p.Tyr85Phe)	YTHDF2 (Y35F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399844	NM_016258.3(YTHDF2):c.439T>C (p.Ser147Pro)	YTHDF2 (S147P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333751	NM_016258.3(YTHDF2):c.518A>G (p.Asn173Ser)	YTHDF2 (N173S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232656	NM_016258.3(YTHDF2):c.553A>G (p.Ile185Val)	YTHDF2 (I185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595701	NM_016258.3(YTHDF2):c.589A>G (p.Thr197Ala)	YTHDF2 (T147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266540	NM_016258.3(YTHDF2):c.634G>C (p.Gly212Arg)	YTHDF2 (G162R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364582	NM_016258.3(YTHDF2):c.649A>G (p.Thr217Ala)	YTHDF2 (T167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402615	NM_016258.3(YTHDF2):c.854C>G (p.Ala285Gly)	YTHDF2 (A235G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296675	NM_016258.3(YTHDF2):c.947C>T (p.Pro316Leu)	YTHDF2 (P316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294765	NM_016258.3(YTHDF2):c.1177C>T (p.Arg393Trp)	YTHDF2 (R343W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333753	NM_016258.3(YTHDF2):c.1244T>C (p.Ile415Thr)	YTHDF2 (I415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602736	NM_016258.3(YTHDF2):c.1363G>A (p.Val455Ile)	YTHDF2 (V405I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477251	NM_016258.3(YTHDF2):c.1486G>A (p.Asp496Asn)	YTHDF2 (D446N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333752	NM_016258.3(YTHDF2):c.1637G>C (p.Ser546Thr)	YTHDF2 (S496T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325841	NM_016258.3(YTHDF2):c.1640A>G (p.Tyr547Cys)	YTHDF2 (Y547C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353752	NM_016258.3(YTHDF2):c.1643A>G (p.Lys548Arg)	YTHDF2 (K498R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333754	NM_016258.3(YTHDF2):c.1721G>A (p.Arg574His)	YTHDF2 (R524H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340314	GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1	ATP5IF1, DNAJC8 +14 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 27