"GeneDx"[submitter] AND "WDR19"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1180362	NM_025132.4(WDR19):c.7-196G>C	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1265601	NM_025132.4(WDR19):c.406+128C>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811687	NM_025132.4(WDR19):c.490G>A (p.Val164Ile)	WDR19 (V164I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1249114	NM_025132.4(WDR19):c.603+23C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GBenign
Select item 424472	NM_025132.4(WDR19):c.617T>C (p.Leu206Pro)	WDR19 (L206P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 632439	NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	WDR19 (L214* +1 more)	Single nucleotide variant (nonsense)	WDR19-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 372998	NM_025132.4(WDR19):c.728G>T (p.Gly243Val)	WDR19 (G243V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 424471	NM_025132.4(WDR19):c.742G>A (p.Gly248Ser)	WDR19 (G248S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 261866	NM_025132.4(WDR19):c.852A>G (p.Ser284=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1269557	NM_025132.4(WDR19):c.890+177A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261867	NM_025132.4(WDR19):c.891C>T (p.Cys297=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1447007	NM_025132.4(WDR19):c.956A>G (p.Asn319Ser)	WDR19 (N159S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1707109	NM_025132.4(WDR19):c.961+102A>T	WDR19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281797	NM_025132.4(WDR19):c.962-172T>C	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241920	NM_025132.4(WDR19):c.962-109A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 953767	NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)	WDR19 (A213G +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1071987	NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)	WDR19 (P215fs +1 more)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 261856	NM_025132.4(WDR19):c.1198C>T (p.Leu400=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +4 more	GConflicting classifications of pathogenicity
Select item 1259512	NM_025132.4(WDR19):c.1250-185G>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261857	NM_025132.4(WDR19):c.1357-10T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +6 more	GBenign
Select item 348736	NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)	WDR19 (R464C +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +6 more	GUncertain significance
Select item 127155	NM_025132.4(WDR19):c.1477G>C (p.Asp493His)	WDR19 (D493H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429872	NM_025132.4(WDR19):c.1480-2A>G	WDR19	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1021136	NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn)	WDR19 (D363N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1238714	NM_025132.4(WDR19):c.1629+76A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270436	NM_025132.4(WDR19):c.1630-59G>A	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30703	NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	WDR19 (L710S +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +5 more	GPathogenic
Select item 1292486	NM_025132.4(WDR19):c.2253+59A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240463	NM_025132.4(WDR19):c.2253+85G>A	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369715	NM_025132.4(WDR19):c.2318A>G (p.Gln773Arg)	WDR19 (Q613R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280765	NM_025132.4(WDR19):c.2363+1G>A	WDR19	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 8 +5 more	GPathogenic/Likely pathogenic
Select item 899742	NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)	WDR19 (A636T +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 385639	NM_025132.4(WDR19):c.2421+5C>G	WDR19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1249234	NM_025132.4(WDR19):c.2421+157C>A	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221168	NM_025132.4(WDR19):c.2422-166A>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423393	NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)	WDR19 (D870N +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +4 more	GConflicting classifications of pathogenicity
Select item 2572872	NM_025132.4(WDR19):c.2686A>G (p.Lys896Glu)	WDR19 (K736E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770086	NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)	WDR19 (Y741C +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1226947	NM_025132.4(WDR19):c.2730-129G>A	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1021213	NM_025132.4(WDR19):c.2786G>A (p.Arg929His)	WDR19 (R769H +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +3 more	GUncertain significance
Select item 388871	NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)	WDR19 (A958T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1280120	NM_025132.4(WDR19):c.2877-157T>A	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283271	NM_025132.4(WDR19):c.2877-30A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372258	NM_025132.4(WDR19):c.2993A>G (p.Asp998Gly)	WDR19 (D838G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249627	NM_025132.4(WDR19):c.3114+59_3114+90dup	WDR19	Duplication (intron variant)	not provided	GBenign
Select item 1233482	NM_025132.4(WDR19):c.3114+62A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261862	NM_025132.4(WDR19):c.3183+16A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +5 more	GBenign
Select item 1264209	NM_025132.4(WDR19):c.3183+188G>T	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1053298	NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn)	WDR19 (D1083N +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +3 more	GUncertain significance
Select item 261863	NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)	WDR19 (G1084S +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 1228476	NM_025132.4(WDR19):c.3359-55A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248093	NM_025132.4(WDR19):c.3483+193T>C	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 127158	NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	WDR19 (R1178Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127159	NM_025132.4(WDR19):c.3565+1G>A	WDR19	Single nucleotide variant (splice donor variant)	Nephronophthisis 13 +4 more	GPathogenic/Likely pathogenic
Select item 1279591	NM_025132.4(WDR19):c.3841-64dup	WDR19	Duplication (intron variant)	not provided	GBenign
Select item 1265246	NM_025132.4(WDR19):c.3841-27T>C	WDR19	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 3365906	NM_025132.4(WDR19):c.3852G>A (p.Met1284Ile)	WDR19 (M1124I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238547	NM_025132.4(WDR19):c.3917+80A>G	WDR19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 67