METTL8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 2334138	NM_001321154.2(METTL8):c.1205C>T (p.Thr402Ile)	LOC122847316, METTL8 (T352I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385211	NM_001321154.2(METTL8):c.1198G>A (p.Val400Ile)	LOC122847316, METTL8 (V400I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125609	NM_001321154.2(METTL8):c.1136G>A (p.Arg379Gln)	LOC122847316, METTL8 (R379Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514146	NM_001321154.2(METTL8):c.998G>C (p.Arg333Pro)	METTL8 (R288P +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469295	NM_001321154.2(METTL8):c.998G>A (p.Arg333Gln)	METTL8 (R283Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344650	NM_001321154.2(METTL8):c.956G>A (p.Arg319His)	METTL8 (R269H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509552	NM_001321154.2(METTL8):c.910A>T (p.Met304Leu)	METTL8 (M254L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230996	NM_001321154.2(METTL8):c.833T>G (p.Phe278Cys)	METTL8 (F326C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285229	NM_001321154.2(METTL8):c.812T>G (p.Leu271Arg)	METTL8 (L226R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482007	NM_001321154.2(METTL8):c.769G>A (p.Val257Ile)	METTL8 (V207I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125614	NM_001321154.2(METTL8):c.764A>G (p.His255Arg)	METTL8 (H210R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364759	NM_001321154.2(METTL8):c.743C>T (p.Thr248Ile)	METTL8 (T248I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225166	NM_001321154.2(METTL8):c.715G>A (p.Val239Ile)	METTL8 (V194I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 767830	NM_001321154.2(METTL8):c.696T>G (p.Ala232=)	METTL8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2459281	NM_001321154.2(METTL8):c.665C>T (p.Pro222Leu)	METTL8 (P222L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352213	NM_001321154.2(METTL8):c.418C>G (p.Arg140Gly)	METTL8 (R140G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125611	NM_001321154.2(METTL8):c.404C>T (p.Thr135Ile)	METTL8 (T135I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125610	NM_001321154.2(METTL8):c.173A>C (p.Glu58Ala)	METTL8 (E13A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398951	NM_001321154.2(METTL8):c.165G>C (p.Lys55Asn)	METTL8 (K103N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459396	NM_001321154.2(METTL8):c.118G>C (p.Ala40Pro)	METTL8 (A88P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125613	NM_001321154.2(METTL8):c.62A>G (p.Tyr21Cys)	METTL8 (Y69C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 1178187	NM_001321154.2(METTL8):c.-76G>C	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231619	NM_001321154.2(METTL8):c.-117C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 332254	NM_025000.4(DCAF17):c.-243C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893003	NM_025000.4(DCAF17):c.-232C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893223	NM_025000.4(DCAF17):c.-222G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 893224	NM_025000.4(DCAF17):c.-213C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome +1 more	GConflicting classifications of pathogenicity
Select item 893225	NM_025000.4(DCAF17):c.-212C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332255	NM_025000.4(DCAF17):c.-206C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332256	NM_025000.4(DCAF17):c.-204C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332257	NM_025000.4(DCAF17):c.-198T>C	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332258	NM_025000.4(DCAF17):c.-111G>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 332259	NM_025000.4(DCAF17):c.-9C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 3017478	NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)	DCAF17, METTL8 (M1L)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2960660	NM_025000.4(DCAF17):c.1A>G (p.Met1Val)	DCAF17, METTL8 (M1V)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2771257	NM_025000.4(DCAF17):c.2T>C (p.Met1Thr)	DCAF17, METTL8 (M1T)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2086006	NM_025000.4(DCAF17):c.9G>T (p.Pro3=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2139628	NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)	DCAF17, METTL8 (K6Q)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2146251	NM_025000.4(DCAF17):c.18G>C (p.Lys6Asn)	DCAF17, METTL8 (K6N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2806852	NM_025000.4(DCAF17):c.21C>T (p.Pro7=)	METTL8, DCAF17	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2782351	NM_025000.4(DCAF17):c.21C>G (p.Pro7=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2816839	NM_025000.4(DCAF17):c.27G>T (p.Val9=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 894073	NM_025000.4(DCAF17):c.27G>A (p.Val9=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 2708973	NM_025000.4(DCAF17):c.45C>T (p.Arg15=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2997678	NM_025000.4(DCAF17):c.48G>A (p.Arg16=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 531	NM_025000.4(DCAF17):c.50del (p.Ala17fs)	DCAF17, METTL8 (A17fs)	Deletion (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 3023522	NM_025000.4(DCAF17):c.51G>A (p.Ala17=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2725101	NM_025000.4(DCAF17):c.51G>T (p.Ala17=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 1028862	NM_025000.4(DCAF17):c.52C>A (p.Leu18Met)	DCAF17, METTL8 (L18M)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 2837291	NM_025000.4(DCAF17):c.57C>T (p.Gly19=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2790075	NM_025000.4(DCAF17):c.60C>T (p.Cys20=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 1454737	NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter)	DCAF17, METTL8 (C20*)	Single nucleotide variant (nonsense +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 1437925	NM_025000.4(DCAF17):c.61T>G (p.Phe21Val)	DCAF17, METTL8 (F21V)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 3024060	NM_025000.4(DCAF17):c.69C>T (p.Arg23=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2866421	NM_025000.4(DCAF17):c.78C>A (p.Gly26=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2415743	NM_025000.4(DCAF17):c.80T>G (p.Val27Gly)	DCAF17, METTL8 (V27G)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 2908460	NM_025000.4(DCAF17):c.81G>A (p.Val27=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2747605	NM_025000.4(DCAF17):c.81G>C (p.Val27=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 571994	NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter)	METTL8, DCAF17 (Q29*)	Single nucleotide variant (nonsense +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 1956041	NM_025000.4(DCAF17):c.87G>A (p.Gln29=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2918775	NM_025000.4(DCAF17):c.90G>A (p.Arg30=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3080286	NM_025000.4(DCAF17):c.95A>G (p.Asn32Ser)	DCAF17, METTL8 (N32S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2013030	NM_025000.4(DCAF17):c.95A>T (p.Asn32Ile)	DCAF17, METTL8 (N32I)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 698382	NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)	DCAF17, METTL8 (N32T)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GConflicting classifications of pathogenicity
Select item 2190170	NM_025000.4(DCAF17):c.97C>T (p.Leu33=)	DCAF17, METTL8 (R3K)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 1407921	NM_025000.4(DCAF17):c.101G>C (p.Gly34Ala)	DCAF17, METTL8 (G34A +1 more)	Single nucleotide variant (missense variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 2075181	NM_025000.4(DCAF17):c.102C>T (p.Gly34=)	DCAF17, METTL8 (M1I)	Single nucleotide variant (missense variant +4 more)	Woodhouse-Sakati syndrome	GBenign
Select item 1162114	NM_025000.4(DCAF17):c.106C>T (p.Leu36=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2883525	NM_025000.4(DCAF17):c.109C>A (p.Arg37=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2906180	NM_025000.4(DCAF17):c.115C>T (p.Leu39=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2771010	NM_025000.4(DCAF17):c.126+2T>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 1364733	NM_025000.4(DCAF17):c.126+6C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 2193945	NM_025000.4(DCAF17):c.126+7G>C	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2805427	NM_025000.4(DCAF17):c.126+11G>C	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2727537	NM_025000.4(DCAF17):c.126+11G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2739639	NM_025000.4(DCAF17):c.126+12C>G	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2734360	NM_025000.4(DCAF17):c.126+19_126+36dup	DCAF17, METTL8	Duplication (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2725963	NM_025000.4(DCAF17):c.126+15G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2913105	NM_025000.4(DCAF17):c.126+17C>T	METTL8, DCAF17	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2992541	NM_025000.4(DCAF17):c.126+18G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2799161	NM_025000.4(DCAF17):c.126+21del	DCAF17, METTL8	Deletion (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GBenign
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1704599	NC_000002.11:g.(?_172290760)_(172341563_?)dup	DCAF17, METTL8	Duplication	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	GPathogenic
Select item 1010962	NC_000002.11:g.(?_172291068)_(172750744_?)dup	CYBRD1, DCAF17 +3 more	Duplication	not provided	GUncertain significance
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic

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