Related gene-specific medical variations for Gene (Select 80067) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233372	NM_025000.4(DCAF17):c.127-1G>C	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3220932	NM_025000.4(DCAF17):c.628-2A>C	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
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 3064196	NM_025000.4(DCAF17):c.322-2A>G	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3062274	NM_025000.4(DCAF17):c.1171dup (p.Glu391fs)	DCAF17 (E391fs)	Duplication (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
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 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 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 2997678	NM_025000.4(DCAF17):c.48G>A (p.Arg16=)	METTL8, DCAF17	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2992541	NM_025000.4(DCAF17):c.126+18G>A	METTL8, DCAF17	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
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 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 2913105	NM_025000.4(DCAF17):c.126+17C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
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 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 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 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 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 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 2806852	NM_025000.4(DCAF17):c.21C>T (p.Pro7=)	DCAF17, METTL8	Single nucleotide variant (synonymous 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 2799161	NM_025000.4(DCAF17):c.126+21del	DCAF17, METTL8	Deletion (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GBenign
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 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 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 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 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 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 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 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 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 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 2440709	NM_025000.4(DCAF17):c.1217G>T (p.Arg406Leu)	DCAF17 (R339L +1 more)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
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 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 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 2146251	NM_025000.4(DCAF17):c.18G>C (p.Lys6Asn)	DCAF17, METTL8 (K6N)	Single nucleotide variant (non-coding transcript variant +2 more)	Woodhouse-Sakati syndrome +1 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 894073	NM_025000.4(DCAF17):c.27G>A (p.Val9=)	DCAF17, METTL8	Single nucleotide variant (synonymous 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 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 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 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 804389	NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter)	DCAF17 (R194*)	Single nucleotide variant (nonsense +1 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
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 571994	NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter)	DCAF17, METTL8 (Q29*)	Single nucleotide variant (nonsense +2 more)	Woodhouse-Sakati syndrome	GPathogenic
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 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 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 332256	NM_025000.4(DCAF17):c.-204C>T	METTL8, DCAF17	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 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 531	NM_025000.4(DCAF17):c.50del (p.Ala17fs)	DCAF17, METTL8 (A17fs)	Deletion (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GPathogenic

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Links from Gene

Items: 64