WDR6[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2653814	NM_018031.4(WDR6):c.15G>C (p.Ala5=)	WDR6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236564	NM_018031.6(WDR6):c.-5T>G	WDR6	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2464180	NM_018031.6(WDR6):c.112G>A (p.Asp38Asn)	WDR6 (D12N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597366	NM_018031.6(WDR6):c.205C>T (p.Arg69Trp)	WDR6 (R69W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524542	NM_018031.6(WDR6):c.211C>T (p.Arg71Trp)	WDR6 (R45W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553126	NM_018031.6(WDR6):c.326G>A (p.Arg109His)	WDR6 (R58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559286	NM_018031.6(WDR6):c.328T>C (p.Ser110Pro)	WDR6 (S84P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520077	NM_018031.6(WDR6):c.516G>T (p.Glu172Asp)	WDR6 (E121D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190154	NM_018031.6(WDR6):c.571A>G (p.Thr191Ala)	WDR6 (T165A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461212	NM_018031.6(WDR6):c.623A>G (p.His208Arg)	WDR6 (H157R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190155	NM_018031.6(WDR6):c.669G>C (p.Leu223Phe)	WDR6 (L223F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190156	NM_018031.6(WDR6):c.697G>T (p.Val233Phe)	WDR6 (V182F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507575	NM_018031.6(WDR6):c.701G>A (p.Arg234His)	WDR6 (R234H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190157	NM_018031.6(WDR6):c.778C>T (p.Arg260Cys)	WDR6 (R260C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190158	NM_018031.6(WDR6):c.790G>A (p.Val264Ile)	WDR6 (V264I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364322	NM_018031.6(WDR6):c.895C>T (p.Arg299Cys)	WDR6 (R273C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190141	NM_018031.6(WDR6):c.913G>A (p.Ala305Thr)	WDR6 (A279T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399757	NM_018031.6(WDR6):c.950G>C (p.Gly317Ala)	WDR6 (G266A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373079	NM_018031.6(WDR6):c.966T>G (p.Ile322Met)	WDR6 (I322M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455546	NM_018031.6(WDR6):c.1013C>T (p.Ser338Leu)	WDR6 (S287L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190142	NM_018031.6(WDR6):c.1015G>A (p.Ala339Thr)	WDR6 (A288T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190143	NM_018031.6(WDR6):c.1057G>A (p.Ala353Thr)	WDR6 (A353T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455220	NM_018031.6(WDR6):c.1235A>G (p.Asn412Ser)	WDR6 (N386S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281433	NM_018031.6(WDR6):c.1246C>T (p.Arg416Cys)	WDR6 (R416C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509567	NM_018031.6(WDR6):c.1336C>T (p.Arg446Cys)	WDR6 (R420C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492652	NM_018031.6(WDR6):c.1488C>G (p.Cys496Trp)	WDR6 (C445W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190144	NM_018031.6(WDR6):c.1531C>T (p.Arg511Cys)	WDR6 (R485C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561264	NM_018031.6(WDR6):c.1534C>T (p.Arg512Trp)	WDR6 (R512W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483663	NM_018031.6(WDR6):c.1625T>C (p.Val542Ala)	WDR6 (V491A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521675	NM_018031.6(WDR6):c.1790G>A (p.Arg597Gln)	WDR6 (R571Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407926	NM_018031.6(WDR6):c.1855C>G (p.Leu619Val)	WDR6 (L593V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360872	NM_018031.6(WDR6):c.1859G>T (p.Arg620Leu)	WDR6 (R594L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611153	NM_018031.6(WDR6):c.1864G>C (p.Val622Leu)	WDR6 (V571L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364819	NM_018031.6(WDR6):c.1881G>A (p.Met627Ile)	WDR6 (M576I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392488	NM_018031.6(WDR6):c.1951G>A (p.Val651Ile)	WDR6 (V600I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 100868	NM_018031.6(WDR6):c.1957T>G (p.Cys653Gly)	WDR6 (C653G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559342	NM_018031.6(WDR6):c.2077G>A (p.Val693Met)	WDR6 (V693M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247875	NM_018031.6(WDR6):c.2105G>A (p.Arg702His)	WDR6 (R676H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275504	NM_018031.6(WDR6):c.2111T>C (p.Ile704Thr)	WDR6 (I653T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258529	NM_018031.6(WDR6):c.2126G>C (p.Arg709Pro)	WDR6 (R683P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510606	NM_018031.6(WDR6):c.2332C>T (p.Arg778Cys)	WDR6 (R752C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190145	NM_018031.6(WDR6):c.2354T>C (p.Ile785Thr)	WDR6 (I734T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206444	NM_018031.6(WDR6):c.2371C>T (p.Pro791Ser)	WDR6 (P765S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611471	NM_018031.6(WDR6):c.2390G>T (p.Gly797Val)	WDR6 (G746V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410710	NM_018031.6(WDR6):c.2402A>G (p.His801Arg)	WDR6 (H750R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190146	NM_018031.6(WDR6):c.2423G>A (p.Arg808Gln)	WDR6 (R757Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549555	NM_018031.6(WDR6):c.2474C>T (p.Pro825Leu)	WDR6 (P774L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190147	NM_018031.6(WDR6):c.2507C>T (p.Ser836Leu)	WDR6 (S810L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326441	NM_018031.6(WDR6):c.2512C>G (p.His838Asp)	WDR6 (H812D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190148	NM_018031.6(WDR6):c.2515C>G (p.Arg839Gly)	WDR6 (R788G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190149	NM_018031.6(WDR6):c.2526G>C (p.Glu842Asp)	WDR6 (E10D +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244523	NM_018031.6(WDR6):c.2536C>T (p.Arg846Trp)	WDR6 (R795W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599526	NM_018031.6(WDR6):c.2543G>A (p.Arg848His)	WDR6 (R848H +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2268874	NM_018031.6(WDR6):c.2608C>T (p.Leu870Phe)	WDR6 (L38F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190150	NM_018031.6(WDR6):c.2662G>A (p.Val888Ile)	WDR6 (V888I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293401	NM_018031.6(WDR6):c.2692C>T (p.Arg898Trp)	WDR6 (R66W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592188	NM_018031.6(WDR6):c.2897C>T (p.Pro966Leu)	WDR6 (P134L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591979	NM_018031.6(WDR6):c.2918C>T (p.Ser973Phe)	WDR6 (S922F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333324	NM_018031.6(WDR6):c.2992G>A (p.Val998Met)	WDR6 (V972M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190152	NM_018031.6(WDR6):c.3079G>C (p.Gly1027Arg)	WDR6 (G1027R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497731	NM_018031.6(WDR6):c.3097C>T (p.Arg1033Cys)	WDR6 (R1007C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338565	NM_018031.6(WDR6):c.3139C>T (p.His1047Tyr)	WDR6 (H1021Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489413	NM_018031.6(WDR6):c.3141T>A (p.His1047Gln)	WDR6 (H215Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589010	NM_018031.6(WDR6):c.3155A>C (p.Lys1052Thr)	WDR6 (K1026T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190153	NM_018031.6(WDR6):c.3223C>T (p.His1075Tyr)	WDR6 (H1024Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351672	NM_018031.6(WDR6):c.3243G>T (p.Met1081Ile)	WDR6 (M1055I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251305	NM_018031.6(WDR6):c.3299G>T (p.Ser1100Ile)	WDR6 (S1049I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080035	NM_001009996.3(DALRD3):c.1612C>T (p.Pro538Ser)	DALRD3, WDR6 (P538S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2328760	NM_001009996.3(DALRD3):c.1586A>G (p.His529Arg)	DALRD3, WDR6 (H362R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234459	NM_001009996.3(DALRD3):c.1549C>T (p.Arg517Cys)	DALRD3, WDR6 (P508L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1342120	NM_001009996.3(DALRD3):c.1512+18T>C	DALRD3, WDR6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2380887	NM_001009996.3(DALRD3):c.1466T>G (p.Leu489Arg)	DALRD3, WDR6 (L489R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Items: 83