YTHDF2[gene] - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 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 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 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 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 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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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: 23