ClinVar for Gene (Select 10785) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190035	NM_018669.6(WDR4):c.743G>A (p.Arg248Lys)	WDR4 (R102K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190034	NM_018669.6(WDR4):c.643C>A (p.Leu215Ile)	WDR4 (L215I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190033	NM_018669.6(WDR4):c.604G>A (p.Gly202Arg)	WDR4 (G56R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190032	NM_018669.6(WDR4):c.347A>C (p.Lys116Thr)	WDR4 (K116T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3190031	NM_018669.6(WDR4):c.338C>G (p.Ser113Trp)	WDR4 (S113W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3190030	NM_018669.6(WDR4):c.268A>G (p.Thr90Ala)	WDR4 (T90A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3190029	NM_018669.6(WDR4):c.1129G>A (p.Glu377Lys)	WDR4 (E376K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190028	NM_018669.6(WDR4):c.1054G>C (p.Gly352Arg)	WDR4 (G351R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3047870	NM_018669.6(WDR4):c.1095C>T (p.Phe365=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	WDR4-related condition	GLikely benign
Select item 3044986	NM_018669.6(WDR4):c.1107C>A (p.Thr369=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	WDR4-related condition	GLikely benign
Select item 3040371	NM_018669.6(WDR4):c.1071C>A (p.Phe357Leu)	WDR4 (F211L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3019555	NM_018669.6(WDR4):c.352T>C (p.Leu118=)	WDR4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3014897	NM_018669.6(WDR4):c.105C>T (p.Leu35=)	WDR4	Single nucleotide variant (synonymous variant +2 more)	WDR4-related condition +1 more	GLikely benign
Select item 3014894	NM_018669.6(WDR4):c.433C>T (p.Leu145=)	WDR4	Single nucleotide variant (synonymous variant +2 more)	WDR4-related condition +1 more	GLikely benign
Select item 2911701	NM_018669.6(WDR4):c.1188C>G (p.Pro396=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909391	NM_018669.6(WDR4):c.89+9G>A	WDR4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2905984	NM_018669.6(WDR4):c.282A>G (p.Gln94=)	WDR4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2894681	NM_018669.6(WDR4):c.714C>T (p.Pro238=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886183	NM_018669.6(WDR4):c.594A>G (p.Pro198=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878650	NM_018669.6(WDR4):c.453+11G>C	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873576	NM_018669.6(WDR4):c.791+11G>A	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871511	NM_018669.6(WDR4):c.321C>T (p.Ala107=)	WDR4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2871050	NM_018669.6(WDR4):c.156-11C>G	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868797	NM_018669.6(WDR4):c.156-11C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868117	NM_018669.6(WDR4):c.90-17T>C	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867808	NM_018669.6(WDR4):c.882C>T (p.Asp294=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867347	NM_018669.6(WDR4):c.876G>C (p.Val292=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864735	NM_018669.6(WDR4):c.1045+11G>A	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856432	NM_018669.6(WDR4):c.1179G>C (p.Pro393=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848231	NM_018669.6(WDR4):c.499G>T (p.Glu167Ter)	WDR4 (E21* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2847850	NM_018669.6(WDR4):c.825C>T (p.Ala275=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831777	NM_018669.6(WDR4):c.1190A>G (p.Asp397Gly)	WDR4 (D397G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2788729	NM_018669.6(WDR4):c.930G>A (p.Gln310=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777469	NM_018669.6(WDR4):c.498C>T (p.Asp166=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762884	NM_018669.6(WDR4):c.1046-16T>C	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751459	NM_018669.6(WDR4):c.791+9C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731413	NM_018669.6(WDR4):c.453+12A>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727439	NM_018669.6(WDR4):c.870C>T (p.His290=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720648	NM_018669.6(WDR4):c.33G>C (p.Gly11=)	WDR4	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2707214	NM_018669.6(WDR4):c.1137G>A (p.Leu379=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684918	GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3	CBS, CRYAA +11 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652715	NM_018669.6(WDR4):c.1071C>T (p.Phe357=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2635103	NM_018669.6(WDR4):c.410G>A (p.Cys137Tyr)	WDR4 (C137Y)	Single nucleotide variant (missense variant +2 more)	WDR4-related condition	GUncertain significance
Select item 2607983	NM_018669.6(WDR4):c.1120A>C (p.Lys374Gln)	WDR4 (K373Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585312	NM_018669.6(WDR4):c.1A>G (p.Met1Val)	WDR4 (M1V)	Single nucleotide variant (missense variant +3 more)	Microcephaly, growth deficiency, seizures, and brain malformations	GLikely pathogenic
Select item 2557603	NM_018669.6(WDR4):c.737C>T (p.Ala246Val)	WDR4 (A100V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2553961	NM_018669.6(WDR4):c.335C>A (p.Ala112Asp)	WDR4 (A112D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541661	NM_018669.6(WDR4):c.790G>A (p.Gly264Ser)	WDR4 (G118S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518678	NM_018669.6(WDR4):c.290G>A (p.Ser97Asn)	WDR4 (S97N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2503412	NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)	WDR4 (R170L +1 more)	Indel (missense variant +1 more)	Galloway-Mowat syndrome 6	GLikely pathogenic
Select item 2503393	NM_018669.6(WDR4):c.709G>A (p.Asp237Asn)	WDR4 (D237N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2490037	NM_018669.6(WDR4):c.443T>C (p.Leu148Pro)	WDR4 (L148P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490036	NM_018669.6(WDR4):c.1213C>A (p.Pro405Thr)	WDR4 (P405T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488223	NM_018669.6(WDR4):c.52G>T (p.Gly18Cys)	WDR4 (G18C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457609	NM_018669.6(WDR4):c.184G>A (p.Gly62Ser)	WDR4 (G62S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2438576	NM_018669.6(WDR4):c.536G>A (p.Ser179Asn)	WDR4 (S179N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438575	NM_018669.6(WDR4):c.749C>T (p.Ala250Val)	WDR4 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428474	NM_018669.6(WDR4):c.269C>T (p.Thr90Ile)	WDR4 (T90I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2427139	NC_000021.8:g.(?_44270159)_(44329131_?)dup	NDUFV3, WDR4	Duplication	not provided	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2421340	NM_018669.6(WDR4):c.360C>T (p.Ala120=)	WDR4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2419516	NM_018669.6(WDR4):c.630C>T (p.Asp210=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413653	NM_018669.6(WDR4):c.1188C>T (p.Pro396=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2410573	NM_018669.6(WDR4):c.1150G>A (p.Glu384Lys)	WDR4 (E383K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410572	NM_018669.6(WDR4):c.1148T>C (p.Leu383Pro)	WDR4 (L237P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406817	NM_018669.6(WDR4):c.524C>T (p.Ala175Val)	WDR4 (A29V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402184	NM_018669.6(WDR4):c.1191C>A (p.Asp397Glu)	WDR4 (D251E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2396240	NM_018669.6(WDR4):c.799G>A (p.Val267Met)	WDR4 (V267M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379544	NM_018669.6(WDR4):c.578G>A (p.Arg193His)	WDR4 (R47H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2376377	NM_018669.6(WDR4):c.994G>A (p.Val332Met)	WDR4 (V332M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367585	NM_018669.6(WDR4):c.1163G>A (p.Arg388Gln)	WDR4 (R242Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360325	NM_018669.6(WDR4):c.523G>A (p.Ala175Thr)	WDR4 (A29T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358538	NM_018669.6(WDR4):c.103C>T (p.Leu35Phe)	WDR4 (L35F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331446	NM_018669.6(WDR4):c.1114C>G (p.Leu372Val)	WDR4 (L371V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309629	NM_018669.6(WDR4):c.584C>A (p.Ser195Tyr)	WDR4 (S49Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302645	NM_018669.6(WDR4):c.59G>T (p.Ser20Ile)	WDR4 (S20I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2297972	NM_018669.6(WDR4):c.779_786del (p.Leu260fs)	WDR4 (L259fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2278224	NM_018669.6(WDR4):c.538A>G (p.Ile180Val)	WDR4 (I34V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266945	NM_018669.6(WDR4):c.49C>T (p.Arg17Trp)	WDR4 (R17W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255312	NM_018669.6(WDR4):c.1046-3C>T	WDR4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2227395	NM_018669.6(WDR4):c.533A>G (p.His178Arg)	WDR4 (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2202110	NM_018669.6(WDR4):c.1189G>A (p.Asp397Asn)	WDR4 (D251N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2197461	NM_018669.6(WDR4):c.489C>T (p.Ala163=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196852	NM_018669.6(WDR4):c.515G>C (p.Ser172Thr)	WDR4 (S26T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2194058	NM_018669.6(WDR4):c.823G>A (p.Ala275Thr)	WDR4 (A275T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2191417	NM_018669.6(WDR4):c.472C>T (p.Arg158Cys)	WDR4 (R12C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2186781	NM_018669.6(WDR4):c.723C>T (p.Pro241=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2183383	NM_018669.6(WDR4):c.1091C>A (p.Thr364Lys)	WDR4 (T364K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177762	NM_018669.6(WDR4):c.1045+8C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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