YTHDC1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	CXCL10, LOC114827842 +330 more	Deletion	See cases	GPathogenic
Select item 2226230	NM_001031732.4(YTHDC1):c.2174A>T (p.Tyr725Phe)	YTHDC1 (Y707F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376535	NM_001031732.4(YTHDC1):c.2156G>A (p.Arg719Gln)	YTHDC1 (R701Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251309	NM_001031732.4(YTHDC1):c.2149A>G (p.Arg717Gly)	YTHDC1 (R725G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314942	NM_001031732.4(YTHDC1):c.2096G>A (p.Arg699Gln)	YTHDC1 (R699Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492004	NM_001031732.4(YTHDC1):c.2021G>A (p.Arg674Gln)	YTHDC1 (R682Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191637	NM_001031732.4(YTHDC1):c.1706A>G (p.Tyr569Cys)	YTHDC1 (Y551C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383352	NM_001031732.4(YTHDC1):c.1687T>C (p.Tyr563His)	YTHDC1 (Y545H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608906	NM_001031732.4(YTHDC1):c.1678A>G (p.Arg560Gly)	YTHDC1 (R542G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191635	NM_001031732.4(YTHDC1):c.1565G>A (p.Arg522His)	YTHDC1 (R522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306226	NM_001031732.4(YTHDC1):c.983A>G (p.Lys328Arg)	YTHDC1 (K328R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298315	NM_001031732.4(YTHDC1):c.821G>A (p.Gly274Asp)	YTHDC1 (G274D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409435	NM_001031732.4(YTHDC1):c.757G>A (p.Asp253Asn)	YTHDC1 (D253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053679	NM_001031732.4(YTHDC1):c.690GGA[3] (p.Glu249del)	YTHDC1 (E249del)	Microsatellite (inframe deletion)	YTHDC1-related disorder	GLikely benign
Select item 2269712	NM_001031732.4(YTHDC1):c.668A>G (p.Glu223Gly)	YTHDC1 (E223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261212	NM_001031732.4(YTHDC1):c.582A>T (p.Gln194His)	YTHDC1 (Q194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591715	NM_001031732.4(YTHDC1):c.417T>A (p.Asp139Glu)	YTHDC1 (D139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519603	NM_001031732.4(YTHDC1):c.407G>A (p.Arg136Gln)	YTHDC1 (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223074	NM_001031732.4(YTHDC1):c.389C>T (p.Pro130Leu)	YTHDC1 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384357	NM_001031732.4(YTHDC1):c.377A>G (p.Tyr126Cys)	YTHDC1 (Y126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396618	NM_001031732.4(YTHDC1):c.338G>A (p.Arg113Gln)	YTHDC1 (R113Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288249	NM_001031732.4(YTHDC1):c.257G>A (p.Ser86Asn)	YTHDC1 (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191638	NM_001031732.4(YTHDC1):c.206T>C (p.Leu69Pro)	YTHDC1 (L69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388380	NM_001031732.4(YTHDC1):c.176G>A (p.Arg59Gln)	YTHDC1 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191636	NM_001031732.4(YTHDC1):c.166G>T (p.Asp56Tyr)	YTHDC1 (D56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209322	NM_001031732.4(YTHDC1):c.124A>C (p.Lys42Gln)	YTHDC1 (K42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191639	NM_001031732.4(YTHDC1):c.25A>G (p.Lys9Glu)	YTHDC1 (K9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1807870	GRCh37/hg19 4q13.2(chr4:68918505-69181506)x1	TMPRSS11B, TMPRSS11F +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527091	GRCh37/hg19 4q13.2(chr4:67997060-69198391)	CENPC, GNRHR +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 814562	GRCh37/hg19 4q13.2(chr4:67392949-69837294)x3	CENPC, GNRHR +12 more	Copy number gain	not provided	GUncertain significance
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 395561	GRCh37/hg19 4q13.2(chr4:68267070-69203425)x3	CENPC, GNRHR +7 more	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 52