WDR75[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 146486	GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1	ANKAR, ASDURF +19 more	Copy number loss	See cases	GPathogenic
Select item 529340	NC_000002.12:g.(?_188974470)_(189580480_?)del	MIR1245A, LOC129935240 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 2536453	NM_032168.3(WDR75):c.23G>T (p.Arg8Leu)	LOC129935238, WDR75 (R8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 145813	GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3	ANKAR, ASDURF +8 more	Copy number gain	See cases	GLikely benign
Select item 2553805	NM_032168.3(WDR75):c.113T>C (p.Phe38Ser)	WDR75 (F38S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2487119	NM_032168.3(WDR75):c.171A>C (p.Arg57Ser)	WDR75 (R57S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2386460	NM_032168.3(WDR75):c.354A>G (p.Ile118Met)	WDR75 (I118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331045	NM_032168.3(WDR75):c.365A>G (p.Glu122Gly)	WDR75 (E122G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380453	NM_032168.3(WDR75):c.446T>C (p.Phe149Ser)	WDR75 (F149S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375332	NM_032168.3(WDR75):c.520C>T (p.Arg174Trp)	WDR75 (R110W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332939	NM_032168.3(WDR75):c.556A>G (p.Lys186Glu)	WDR75 (K186E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495150	NM_032168.3(WDR75):c.620C>T (p.Thr207Ile)	WDR75 (T143I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228500	NM_032168.3(WDR75):c.668T>C (p.Met223Thr)	WDR75 (M159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526743	NM_032168.3(WDR75):c.715T>C (p.Tyr239His)	WDR75 (Y175H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594300	NM_032168.3(WDR75):c.746A>G (p.Asp249Gly)	WDR75 (D185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328870	NM_032168.3(WDR75):c.755T>G (p.Met252Arg)	WDR75 (M252R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349376	NM_032168.3(WDR75):c.799G>A (p.Gly267Ser)	WDR75 (G203S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222066	NM_032168.3(WDR75):c.803G>T (p.Arg268Leu)	WDR75 (R268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190241	NM_032168.3(WDR75):c.824G>T (p.Trp275Leu)	WDR75 (W211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190242	NM_032168.3(WDR75):c.827G>A (p.Arg276His)	WDR75 (R276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320051	NM_032168.3(WDR75):c.909T>A (p.Asp303Glu)	WDR75 (D239E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332937	NM_032168.3(WDR75):c.1108T>C (p.Tyr370His)	WDR75 (Y306H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332936	NM_032168.3(WDR75):c.1120A>G (p.Ile374Val)	WDR75 (I310V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332938	NM_032168.3(WDR75):c.1163T>C (p.Ile388Thr)	WDR75 (I324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190236	NM_032168.3(WDR75):c.1222C>G (p.Arg408Gly)	WDR75 (R344G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532519	NM_032168.3(WDR75):c.1238C>T (p.Thr413Ile)	WDR75 (T349I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221112	NM_032168.3(WDR75):c.1370A>G (p.Glu457Gly)	WDR75 (E457G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601318	NM_032168.3(WDR75):c.1422A>G (p.Ile474Met)	WDR75 (I410M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385067	NM_032168.3(WDR75):c.1486T>A (p.Tyr496Asn)	WDR75 (Y496N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190238	NM_032168.3(WDR75):c.1514G>T (p.Cys505Phe)	WDR75 (C505F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320987	NM_032168.3(WDR75):c.1569A>G (p.Ile523Met)	WDR75 (I523M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329293	NM_032168.3(WDR75):c.1795T>C (p.Ser599Pro)	WDR75 (S535P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190239	NM_032168.3(WDR75):c.2048A>C (p.Gln683Pro)	WDR75 (Q619P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386984	NM_032168.3(WDR75):c.2149G>A (p.Glu717Lys)	WDR75 (E653K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454223	NM_032168.3(WDR75):c.2185G>T (p.Ala729Ser)	WDR75 (A665S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246411	NM_032168.3(WDR75):c.2329A>G (p.Lys777Glu)	WDR75 (K777E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560692	NM_032168.3(WDR75):c.2413A>T (p.Ile805Leu)	WDR75 (I741L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247151	NC_000002.11:g.(?_189839216)_(190445186_?)del	COL3A1, COL5A2 +2 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 830862	NC_000002.12:g.(?_188974480)_(189580648_?)del	WDR75, COL3A1 +2 more	Deletion	Ehlers-Danlos syndrome, classic type +1 more	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	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
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65