ClinVar for Gene (Select 728464) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294442	NM_001123364.3(METTL24):c.311G>A (p.Arg104His)	METTL24 (R104H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294441	NM_001123364.3(METTL24):c.322C>G (p.Pro108Ala)	METTL24 (P108A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294440	NM_001123364.3(METTL24):c.526C>T (p.Arg176Cys)	METTL24 (R176C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3125522	NM_001123364.3(METTL24):c.937G>A (p.Val313Ile)	METTL24 (V116I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125521	NM_001123364.3(METTL24):c.83G>A (p.Arg28Gln)	METTL24 (R28Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125520	NM_001123364.3(METTL24):c.767A>G (p.Asn256Ser)	METTL24 (N59S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125519	NM_001123364.3(METTL24):c.698G>T (p.Arg233Leu)	METTL24 (R233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125518	NM_001123364.3(METTL24):c.651T>G (p.Ile217Met)	METTL24 (I217M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125517	NM_001123364.3(METTL24):c.646C>T (p.His216Tyr)	METTL24 (H216Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125516	NM_001123364.3(METTL24):c.47G>T (p.Arg16Leu)	METTL24 (R16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125515	NM_001123364.3(METTL24):c.37G>A (p.Val13Ile)	METTL24 (V13I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125514	NM_001123364.3(METTL24):c.325C>T (p.Arg109Trp)	METTL24 (R109W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125513	NM_001123364.3(METTL24):c.233G>C (p.Ser78Thr)	METTL24 (S78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2587950	NM_001123364.3(METTL24):c.679C>T (p.Arg227Cys)	METTL24 (R30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570015	NM_001123364.3(METTL24):c.112C>T (p.Pro38Ser)	METTL24 (P38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527354	NM_001123364.3(METTL24):c.171C>A (p.His57Gln)	METTL24 (H57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522127	NM_001123364.3(METTL24):c.127C>G (p.Arg43Gly)	METTL24 (R43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520883	NM_001123364.3(METTL24):c.620G>A (p.Arg207His)	METTL24 (R207H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516780	NM_001123364.3(METTL24):c.491G>A (p.Cys164Tyr)	METTL24 (C164Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409518	NM_001123364.3(METTL24):c.119C>A (p.Ser40Tyr)	METTL24 (S40Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402636	NM_001123364.3(METTL24):c.233G>A (p.Ser78Asn)	METTL24 (S78N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390788	NM_001123364.3(METTL24):c.314G>A (p.Arg105Gln)	METTL24 (R105Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381662	NM_001123364.3(METTL24):c.314G>C (p.Arg105Pro)	METTL24 (R105P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339322	NM_001123364.3(METTL24):c.334A>G (p.Ile112Val)	METTL24 (I112V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337883	NM_001123364.3(METTL24):c.71T>G (p.Leu24Trp)	METTL24 (L24W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311191	NM_001123364.3(METTL24):c.715G>A (p.Val239Ile)	METTL24 (V239I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809212	GRCh37/hg19 6q21(chr6:110504179-110635478)x1	CDC40, METTL24	Copy number loss	not provided	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980218	GRCh37/hg19 6q21(chr6:110288308-110768384)x3	DDO, GPR6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52