WDR75[gene] - ClinVar

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Items: 60

	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	AAMP, ABCA12 +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	LOC129935240, COL3A1 +11 more	Deletion	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +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 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 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 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	COL3A1, COL5A2 +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

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Items: 60