ClinVar for MedGen (Select 462224) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24234591.	NC_000002.11:g.(?_20188906)_(20189063_?)del GRCh37: Chr2:20188906-20189063	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Pathogenic (Oct 29, 2021)	criteria provided, single submitter
Select item 24150512.	NM_020779.4(WDR35):c.1524+11C>T GRCh37: Chr2:20147914 GRCh38: Chr2:19948153	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 22022873.	NM_020779.4(WDR35):c.141A>G (p.Thr47=) GRCh37: Chr2:20188927 GRCh38: Chr2:19989166	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 21994124.	NM_020779.4(WDR35):c.24+17dup GRCh37: Chr2:20189735-20189736 GRCh38: Chr2:19989974-19989975	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Benign (Aug 28, 2022)	criteria provided, single submitter
Select item 21980235.	NM_020779.4(WDR35):c.1058G>A (p.Arg353His) GRCh37: Chr2:20166621 GRCh38: Chr2:19966860	WDR35	R353H	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 21958866.	NM_020779.4(WDR35):c.1302G>A (p.Ser434=) GRCh37: Chr2:20153693 GRCh38: Chr2:19953932	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 21917137.	NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg) GRCh37: Chr2:20113377 GRCh38: Chr2:19913616	WDR35	L1163R, L1152R	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 21906028.	NM_020779.4(WDR35):c.489A>G (p.Thr163=) GRCh37: Chr2:20175372 GRCh38: Chr2:19975611	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 21900799.	NM_020779.4(WDR35):c.2191A>G (p.Met731Val) GRCh37: Chr2:20137580 GRCh38: Chr2:19937819	WDR35	M731V, M742V	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 218064010.	NM_020779.4(WDR35):c.367T>C (p.Trp123Arg) GRCh37: Chr2:20178581 GRCh38: Chr2:19978820	WDR35	W123R	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 217997611.	NM_020779.4(WDR35):c.3267A>G (p.Glu1089=) GRCh37: Chr2:20113893 GRCh38: Chr2:19914132	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217900412.	NM_001006657.2(WDR35):c.1227G>A (p.Thr409=) GRCh37: Chr2:20162056 GRCh38: Chr2:19962295	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 217724013.	NM_020779.4(WDR35):c.3396A>G (p.Thr1132=) GRCh37: Chr2:20113436 GRCh38: Chr2:19913675	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 217712814.	NM_020779.4(WDR35):c.2964+14T>A GRCh37: Chr2:20131016 GRCh38: Chr2:19931255	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 217245915.	NM_020779.4(WDR35):c.2523T>C (p.Leu841=) GRCh37: Chr2:20135256 GRCh38: Chr2:19935495	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 217178716.	NM_020779.4(WDR35):c.1994C>T (p.Ala665Val) GRCh37: Chr2:20138095 GRCh38: Chr2:19938334	WDR35	A665V, A676V	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 216970417.	NM_020779.4(WDR35):c.658G>T (p.Val220Leu) GRCh37: Chr2:20174307 GRCh38: Chr2:19974546	WDR35	V220L	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 216955418.	NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr) GRCh37: Chr2:20153725 GRCh38: Chr2:19953964	WDR35	A435T, A424T	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 216616519.	NM_020779.4(WDR35):c.2193G>C (p.Met731Ile) GRCh37: Chr2:20137578 GRCh38: Chr2:19937817	WDR35	M742I, M731I	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 216237620.	NM_020779.4(WDR35):c.1635-19C>T GRCh37: Chr2:20145776 GRCh38: Chr2:19946015	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 216177521.	NM_020779.4(WDR35):c.882+10T>A GRCh37: Chr2:20173314 GRCh38: Chr2:19973553	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 216091122.	NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser) GRCh37: Chr2:20113384 GRCh38: Chr2:19913623	WDR35	G1161S, G1150S	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 216009723.	NM_020779.4(WDR35):c.1101A>G (p.Glu367=) GRCh37: Chr2:20166578 GRCh38: Chr2:19966817	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215680724.	NM_020779.4(WDR35):c.1674C>T (p.Phe558=) GRCh37: Chr2:20145718 GRCh38: Chr2:19945957	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 215670925.	NM_020779.4(WDR35):c.570+7_570+10del GRCh37: Chr2:20175281-20175284 GRCh38: Chr2:19975520-19975523	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214956426.	NM_020779.4(WDR35):c.3003T>A (p.Val1001=) GRCh37: Chr2:20130275 GRCh38: Chr2:19930514	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 214810927.	NM_020779.4(WDR35):c.2430A>G (p.Gln810=) GRCh37: Chr2:20135349 GRCh38: Chr2:19935588	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214069228.	NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr) GRCh37: Chr2:20137507 GRCh38: Chr2:19937746	WDR35	R755T, R766T	Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213989929.	NM_020779.4(WDR35):c.570+2T>G GRCh37: Chr2:20175289 GRCh38: Chr2:19975528	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 213270530.	NM_020779.4(WDR35):c.376G>A (p.Asp126Asn) GRCh37: Chr2:20178572 GRCh38: Chr2:19978811	WDR35	D126N	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212744731.	NM_020779.4(WDR35):c.732C>T (p.Asp244=) GRCh37: Chr2:20174233 GRCh38: Chr2:19974472	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 212170132.	NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu) GRCh37: Chr2:20145738 GRCh38: Chr2:19945977	WDR35	I552L, I563L	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211692933.	NM_020779.4(WDR35):c.1834T>C (p.Leu612=) GRCh37: Chr2:20145558 GRCh38: Chr2:19945797	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211306134.	NM_020779.4(WDR35):c.2559A>T (p.Gln853His) GRCh37: Chr2:20133261 GRCh38: Chr2:19933500	LOC129933186, WDR35	Q853H, Q864H	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 211261235.	NM_020779.4(WDR35):c.629T>C (p.Ile210Thr) GRCh37: Chr2:20174336 GRCh38: Chr2:19974575	WDR35	I210T	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210861136.	NM_020779.4(WDR35):c.3362+6C>T GRCh37: Chr2:20113792 GRCh38: Chr2:19914031	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 210625837.	NM_020779.4(WDR35):c.2190A>G (p.Ser730=) GRCh37: Chr2:20137581 GRCh38: Chr2:19937820	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 209784738.	NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn) GRCh37: Chr2:20130161 GRCh38: Chr2:19930400	WDR35	K1050N, K1039N	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 209726939.	NM_020779.4(WDR35):c.25-17T>C GRCh37: Chr2:20189060 GRCh38: Chr2:19989299	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 209677640.	NM_020779.4(WDR35):c.2844G>A (p.Lys948=) GRCh37: Chr2:20131150 GRCh38: Chr2:19931389	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209120641.	NM_020779.4(WDR35):c.717G>A (p.Met239Ile) GRCh37: Chr2:20174248 GRCh38: Chr2:19974487	WDR35	M239I	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 209060842.	NM_020779.4(WDR35):c.1527T>C (p.Gly509=) GRCh37: Chr2:20146329 GRCh38: Chr2:19946568	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 208706943.	NM_020779.4(WDR35):c.2538G>A (p.Lys846=) GRCh37: Chr2:20135241 GRCh38: Chr2:19935480	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 208353144.	NM_020779.4(WDR35):c.442C>T (p.Arg148Cys) GRCh37: Chr2:20175419 GRCh38: Chr2:19975658	WDR35	R148C	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 208336445.	NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg) GRCh37: Chr2:20137636 GRCh38: Chr2:19937875	WDR35	K712R, K723R	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 207413946.	NM_020779.4(WDR35):c.2551A>G (p.Ile851Val) GRCh37: Chr2:20133269 GRCh38: Chr2:19933508	LOC129933186, WDR35	I862V, I851V	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 207383747.	NM_020779.4(WDR35):c.873G>A (p.Pro291=) GRCh37: Chr2:20173333 GRCh38: Chr2:19973572	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 207199148.	NM_020779.4(WDR35):c.1503A>G (p.Ala501=) GRCh37: Chr2:20147946 GRCh38: Chr2:19948185	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 206848749.	NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg) GRCh37: Chr2:20113393 GRCh38: Chr2:19913632	WDR35	C1158R, C1147R	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 206133450.	NM_020779.4(WDR35):c.872C>T (p.Pro291Leu) GRCh37: Chr2:20173334 GRCh38: Chr2:19973573	WDR35	P291L	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 205856351.	NM_020779.4(WDR35):c.1525-2A>T GRCh37: Chr2:20146333 GRCh38: Chr2:19946572	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 205317152.	NM_020779.4(WDR35):c.1194+11C>T GRCh37: Chr2:20166474 GRCh38: Chr2:19966713	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 205160253.	NM_020779.4(WDR35):c.2964+17_2964+18delinsGG GRCh37: Chr2:20131012-20131013 GRCh38: Chr2:19931251-19931252	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 204717654.	NM_020779.4(WDR35):c.333C>T (p.Asn111=) GRCh37: Chr2:20178615 GRCh38: Chr2:19978854	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 204586855.	NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe) GRCh37: Chr2:20113378 GRCh38: Chr2:19913617	WDR35	L1152F, L1163F	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 203824756.	NM_020779.4(WDR35):c.288T>C (p.Ile96=) GRCh37: Chr2:20180471 GRCh38: Chr2:19980710	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 203766857.	NM_020779.4(WDR35):c.1937A>G (p.His646Arg) GRCh37: Chr2:20138152 GRCh38: Chr2:19938391	WDR35	H646R, H657R	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 203714058.	NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr) GRCh37: Chr2:20141545 GRCh38: Chr2:19941784	WDR35	S634Y, S645Y	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202877459.	NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu) GRCh37: Chr2:20113838 GRCh38: Chr2:19914077	WDR35	K1108E, K1119E	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, not provided	Uncertain significance (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 202114960.	NM_020779.4(WDR35):c.436+18C>T GRCh37: Chr2:20178494 GRCh38: Chr2:19978733	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 199382761.	NM_020779.4(WDR35):c.920C>T (p.Ser307Phe) GRCh37: Chr2:20169329 GRCh38: Chr2:19969568	WDR35	S307F	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199327362.	NM_020779.4(WDR35):c.3121+10T>C GRCh37: Chr2:20130147 GRCh38: Chr2:19930386	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198521663.	NM_020779.4(WDR35):c.1400+6del GRCh37: Chr2:20153589 GRCh38: Chr2:19953828	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 197970464.	NM_020779.4(WDR35):c.571-3del GRCh37: Chr2:20174397 GRCh38: Chr2:19974636	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 197861065.	NM_020779.4(WDR35):c.2213G>T (p.Gly738Val) GRCh37: Chr2:20137558 GRCh38: Chr2:19937797	WDR35	G738V, G749V	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 197847066.	NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter) GRCh37: Chr2:20132166 GRCh38: Chr2:19932405	WDR35	E901, E912	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 195731567.	NM_020779.4(WDR35):c.2385T>C (p.Ile795=) GRCh37: Chr2:20136009 GRCh38: Chr2:19936248	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 195526368.	NM_020779.4(WDR35):c.3122-16G>C GRCh37: Chr2:20114054 GRCh38: Chr2:19914293	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 194996269.	NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu) GRCh37: Chr2:20153629 GRCh38: Chr2:19953868	WDR35	Q456E, Q467E	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 190787670.	NM_020779.4(WDR35):c.613A>G (p.Ile205Val) GRCh37: Chr2:20174352 GRCh38: Chr2:19974591	WDR35	I205V	Inborn genetic diseases, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190324771.	NM_020779.4(WDR35):c.496G>A (p.Ala166Thr) GRCh37: Chr2:20175365 GRCh38: Chr2:19975604	WDR35	A166T	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 189788072.	NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg) GRCh37: Chr2:20136036 GRCh38: Chr2:19936275	WDR35	S786R, S797R	Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 171559173.	NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro) GRCh37: Chr2:20130244 GRCh38: Chr2:19930483	WDR35	A1012P, A1023P	Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 167438274.	NM_020779.4(WDR35):c.1525-15A>C GRCh37: Chr2:20146346 GRCh38: Chr2:19946585	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jan 28, 2021)	criteria provided, single submitter
Select item 167366275.	NM_020779.4(WDR35):c.1008+10A>C GRCh37: Chr2:20169231 GRCh38: Chr2:19969470	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 167178476.	NM_020779.4(WDR35):c.3363-15C>T GRCh37: Chr2:20113484 GRCh38: Chr2:19913723	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jul 1, 2021)	criteria provided, single submitter
Select item 166842077.	NM_020779.4(WDR35):c.1471-19A>G GRCh37: Chr2:20147997 GRCh38: Chr2:19948236	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 21, 2021)	criteria provided, single submitter
Select item 165868578.	NM_020779.4(WDR35):c.24+9C>T GRCh37: Chr2:20189744 GRCh38: Chr2:19989983	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 165683579.	NM_020779.4(WDR35):c.2964+13G>A GRCh37: Chr2:20131017 GRCh38: Chr2:19931256	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 165542180.	NM_020779.4(WDR35):c.3363-11C>A GRCh37: Chr2:20113480 GRCh38: Chr2:19913719	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 165251881.	NM_020779.4(WDR35):c.2622A>C (p.Pro874=) GRCh37: Chr2:20133198 GRCh38: Chr2:19933437	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Jun 22, 2021)	criteria provided, single submitter
Select item 164854982.	NM_020779.4(WDR35):c.3363-9G>A GRCh37: Chr2:20113478 GRCh38: Chr2:19913717	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 164780583.	NM_020779.4(WDR35):c.30C>T (p.Ser10=) GRCh37: Chr2:20189038 GRCh38: Chr2:19989277	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Nov 3, 2020)	criteria provided, single submitter
Select item 163681384.	NM_020779.4(WDR35):c.657C>T (p.Tyr219=) GRCh37: Chr2:20174308 GRCh38: Chr2:19974547	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 162695285.	NM_020779.4(WDR35):c.1845+16G>A GRCh37: Chr2:20145531 GRCh38: Chr2:19945770	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Benign (Oct 28, 2022)	criteria provided, single submitter
Select item 162634186.	NM_020779.4(WDR35):c.81G>A (p.Gly27=) GRCh37: Chr2:20188987 GRCh38: Chr2:19989226	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 14, 2021)	criteria provided, single submitter
Select item 161995587.	NM_020779.4(WDR35):c.2592A>G (p.Ala864=) GRCh37: Chr2:20133228 GRCh38: Chr2:19933467	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Oct 27, 2021)	criteria provided, single submitter
Select item 160741588.	NM_020779.4(WDR35):c.2739A>G (p.Leu913=) GRCh37: Chr2:20132128 GRCh38: Chr2:19932367	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 160202589.	NM_020779.4(WDR35):c.1950T>C (p.Asp650=) GRCh37: Chr2:20138139 GRCh38: Chr2:19938378	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 21, 2021)	criteria provided, single submitter
Select item 160053090.	NM_020779.4(WDR35):c.1846-11dup GRCh37: Chr2:20141610-20141611 GRCh38: Chr2:19941849-19941850	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Benign (May 7, 2021)	criteria provided, single submitter
Select item 159180391.	NM_020779.4(WDR35):c.1446G>A (p.Val482=) GRCh37: Chr2:20151200 GRCh38: Chr2:19951439	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 159170292.	NM_020779.4(WDR35):c.3189C>T (p.Cys1063=) GRCh37: Chr2:20113971 GRCh38: Chr2:19914210	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 159142293.	NM_020779.4(WDR35):c.1194+10T>C GRCh37: Chr2:20166475 GRCh38: Chr2:19966714	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 159109094.	NM_020779.4(WDR35):c.2691T>C (p.His897=) GRCh37: Chr2:20132176 GRCh38: Chr2:19932415	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 158709895.	NM_020779.4(WDR35):c.1009-18T>A GRCh37: Chr2:20166688 GRCh38: Chr2:19966927	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 158517696.	NM_020779.4(WDR35):c.2446C>A (p.Arg816=) GRCh37: Chr2:20135333 GRCh38: Chr2:19935572	WDR35		Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 158497897.	NM_020779.4(WDR35):c.1410T>C (p.His470=) GRCh37: Chr2:20151236 GRCh38: Chr2:19951475	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 158168698.	NM_020779.4(WDR35):c.1401-15T>G GRCh37: Chr2:20151260 GRCh38: Chr2:19951499	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 158072799.	NM_020779.4(WDR35):c.2643C>T (p.Cys881=) GRCh37: Chr2:20133177 GRCh38: Chr2:19933416	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 1578981100.	NM_020779.4(WDR35):c.339A>G (p.Arg113=) GRCh37: Chr2:20178609 GRCh38: Chr2:19978848	WDR35		Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly	Likely benign (Mar 2, 2022)	criteria provided, single submitter

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