WDR19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 348721	NM_025132.3(WDR19):c.-59dup	LOC112939934, WDR19	Duplication	Cranioectodermal dysplasia +1 more	GUncertain significance
Select item 348722	NM_025132.4(WDR19):c.-15G>T	WDR19	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 261855	NM_025132.4(WDR19):c.-9A>G	WDR19	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1486432	NM_025132.4(WDR19):c.2T>C (p.Met1Thr)	WDR19 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1385976	NM_025132.4(WDR19):c.6+3A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1091800	NM_025132.4(WDR19):c.6+6_6+8del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 348723	NM_025132.4(WDR19):c.6+5A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +2 more	GConflicting classifications of pathogenicity
Select item 1090111	NM_025132.4(WDR19):c.6+9C>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1982021	NM_025132.4(WDR19):c.6+11T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2020675	NM_025132.4(WDR19):c.6+16A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2939241	NM_025132.4(WDR19):c.6+20C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 1180362	NM_025132.4(WDR19):c.7-196G>C	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2120325	NM_025132.4(WDR19):c.7-9del	WDR19	Deletion (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2925837	NM_025132.4(WDR19):c.7-7T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 1467820	NM_025132.4(WDR19):c.7-5T>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2043572	NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)	WDR19 (R3C)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 1044527	NM_025132.4(WDR19):c.8G>A (p.Arg3His)	WDR19 (R3H)	Single nucleotide variant (5 prime UTR variant +1 more)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1383204	NM_025132.4(WDR19):c.11T>C (p.Ile4Thr)	WDR19 (I4T)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 562401	NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	WDR19 (F5S)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 2944319	NM_025132.4(WDR19):c.18A>C (p.Ser6=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 30705	NM_025132.4(WDR19):c.20T>C (p.Leu7Pro)	WDR19 (L7P)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5	GPathogenic
Select item 1627893	NM_025132.4(WDR19):c.42C>T (p.Gly14=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1400912	NM_025132.4(WDR19):c.43G>A (p.Ala15Thr)	WDR19 (A15T)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2179233	NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)	WDR19 (Q18R)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 558760	NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)	WDR19 (F19C)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +3 more	GUncertain significance
Select item 3189888	NM_025132.4(WDR19):c.59C>T (p.Ala20Val)	WDR19 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1435262	NM_025132.4(WDR19):c.65A>C (p.Gln22Pro)	WDR19 (Q22P)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2262591	NM_025132.4(WDR19):c.73T>C (p.Ser25Pro)	WDR19 (S25P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1113043	NM_025132.4(WDR19):c.75A>G (p.Ser25=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 1477800	NM_025132.4(WDR19):c.77G>C (p.Gly26Ala)	WDR19 (G26A)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1127564	NM_025132.4(WDR19):c.78A>G (p.Gly26=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1160316	NM_025132.4(WDR19):c.81C>T (p.Asn27=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1952894	NM_025132.4(WDR19):c.82T>C (p.Tyr28His)	WDR19 (Y28H)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2506392	NM_025132.4(WDR19):c.98+5G>T	WDR19	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 4	GUncertain significance
Select item 757778	NM_025132.4(WDR19):c.98+10C>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1083474	NM_025132.4(WDR19):c.98+14G>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1259245	NM_025132.4(WDR19):c.98+85del	WDR19	Deletion (intron variant)	not provided	GBenign
Select item 1179420	NM_025132.4(WDR19):c.98+85G>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2026883	NM_025132.4(WDR19):c.99-16T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 1594321	NM_025132.4(WDR19):c.99-12G>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1569404	NM_025132.4(WDR19):c.99-11A>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 964072	NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp)	WDR19 (Y36D)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 802067	NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter)	WDR19 (Y36*)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5	GPathogenic
Select item 902352	NM_025132.4(WDR19):c.128G>A (p.Arg43His)	WDR19 (R43H)	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 4 +2 more	GUncertain significance
Select item 817180	NM_025132.4(WDR19):c.142dup (p.Arg48fs)	WDR19 (R48fs)	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1644645	NM_025132.4(WDR19):c.141A>G (p.Lys47=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1580159	NM_025132.4(WDR19):c.153T>A (p.Ile51=)	WDR19	Single nucleotide variant (synonymous variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1581325	NM_025132.4(WDR19):c.164+12A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1633552	NM_025132.4(WDR19):c.164+20_164+32del	WDR19	Deletion (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2164930	NM_025132.4(WDR19):c.165-15T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2042781	NM_025132.4(WDR19):c.165-6dup	WDR19	Duplication (intron variant)	Senior-Loken syndrome 8 +1 more	GBenign
Select item 1460915	NM_025132.4(WDR19):c.165-6T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 902353	NM_025132.4(WDR19):c.171T>C (p.Cys57=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 1484439	NM_025132.4(WDR19):c.186G>C (p.Trp62Cys)	WDR19 (W62C)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1362661	NM_025132.4(WDR19):c.197G>A (p.Gly66Glu)	WDR19 (G66E)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 1571272	NM_025132.4(WDR19):c.198A>G (p.Gly66=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 348724	NM_025132.4(WDR19):c.198A>T (p.Gly66=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 4 +2 more	GConflicting classifications of pathogenicity
Select item 1365785	NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)	WDR19 (D67G)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 189379	NM_025132.4(WDR19):c.203T>A (p.Val68Asp)	WDR19 (V68D)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8	GPathogenic
Select item 2008419	NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)	WDR19 (K75Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1088103	NM_025132.4(WDR19):c.228T>C (p.Ser76=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1447700	NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr)	WDR19 (C78Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1625398	NM_025132.4(WDR19):c.234C>T (p.Cys78=)	WDR19	Single nucleotide variant (synonymous variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1456271	NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)	WDR19 (C78*)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GPathogenic
Select item 3332738	NM_025132.4(WDR19):c.241C>T (p.Leu81Phe)	WDR19 (L81F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728657	NM_025132.4(WDR19):c.243T>C (p.Leu81=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2157654	NM_025132.4(WDR19):c.252C>A (p.Ala84=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 3189883	NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)	WDR19 (T86K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1007526	NM_025132.4(WDR19):c.269G>A (p.Ser90Asn)	WDR19 (S90N)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 934192	NM_025132.4(WDR19):c.270C>T (p.Ser90=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 961687	NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)	WDR19 (L92*)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 1354015	NM_025132.4(WDR19):c.277G>C (p.Asp93His)	WDR19 (D93H)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2054693	NM_025132.4(WDR19):c.282T>C (p.Asn94=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 1487764	NM_025132.4(WDR19):c.288G>A (p.Met96Ile)	WDR19 (M96I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2132592	NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)	WDR19 (R97K)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 1462960	NM_025132.4(WDR19):c.290+20T>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 1294278	NM_025132.4(WDR19):c.290+115C>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266271	NM_025132.4(WDR19):c.290+226T>C	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289676	NM_025132.4(WDR19):c.291-177A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618487	NM_025132.4(WDR19):c.291-37C>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663916	NM_025132.4(WDR19):c.291-21A>G	WDR19	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2151265	NM_025132.4(WDR19):c.291-17A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 930989	NM_025132.4(WDR19):c.291-12_291-11del	WDR19	Deletion (intron variant)	Cranioectodermal dysplasia 4	GUncertain significance
Select item 866355	NM_025132.4(WDR19):c.291-9A>G	WDR19	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 1391596	NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr)	WDR19 (D98Y)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 5 +2 more	GUncertain significance
Select item 866918	NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr)	WDR19 (S101Y)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1005552	NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)	WDR19 (G109E)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1483399	NM_025132.4(WDR19):c.328A>G (p.Ser110Gly)	WDR19 (S110G)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2131149	NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)	WDR19 (F111C)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2940522	NM_025132.4(WDR19):c.333C>T (p.Phe111=)	WDR19	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 937818	NM_025132.4(WDR19):c.333C>A (p.Phe111Leu)	WDR19 (F111L)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 1003404	NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)	WDR19 (G115R)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1476180	NM_025132.4(WDR19):c.359A>T (p.Asn120Ile)	WDR19 (N120I)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 1442224	NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys)	WDR19 (Y124C)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2195039	NM_025132.4(WDR19):c.373A>C (p.Asn125His)	WDR19 (N125H)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance

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