"GeneDx"[submitter] AND "WDR72"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1225957	NM_182758.4(WDR72):c.3149-233C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145829	GRCh38/hg38 15q21.3(chr15:53553175-53673345)x1	LOC132090879, WDR72	Copy number loss	See cases	GLikely benign
Select item 145282	GRCh38/hg38 15q21.3(chr15:53553175-53609466)x1	LOC132090879, WDR72	Copy number loss	See cases	GBenign
Select item 232	NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)	WDR72 (W978*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1271879	NM_182758.4(WDR72):c.2872+217A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279101	NM_182758.4(WDR72):c.2872+134A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229563	NM_182758.4(WDR72):c.2872+84G>A	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278090	NM_182758.4(WDR72):c.2872+42del	WDR72	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1235204	NM_182758.4(WDR72):c.2781-201ATAA[4]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 262999	NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe)	WDR72 (L819F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1287048	NM_182758.4(WDR72):c.1962+230A>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391607	NM_182758.4(WDR72):c.1739C>T (p.Ser580Leu)	WDR72 (S580L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1287880	NM_182758.4(WDR72):c.1569+205C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262998	NM_182758.4(WDR72):c.1407T>C (p.Tyr469=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1259822	NM_182758.4(WDR72):c.1348+188T>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266624	NM_182758.4(WDR72):c.1348+96G>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278732	NM_182758.4(WDR72):c.1103-238del	WDR72	Deletion (intron variant)	not provided	GBenign
Select item 1249601	NM_182758.4(WDR72):c.955-43C>A	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GBenign
Select item 1266136	NM_182758.4(WDR72):c.954+145A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268270	NM_182758.4(WDR72):c.954+115A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 263003	NM_182758.4(WDR72):c.917C>T (p.Pro306Leu)	WDR72 (P306L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1227925	NM_182758.4(WDR72):c.711+249C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249156	NM_182758.4(WDR72):c.711+172T>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233078	NM_182758.4(WDR72):c.711+156dup	WDR72	Duplication (intron variant)	not provided	GBenign
Select item 1269936	NM_182758.4(WDR72):c.592-156A>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224220	NM_182758.4(WDR72):c.591+231CA[14]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1224740	NM_182758.4(WDR72):c.591+231CA[9]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1261812	NM_182758.4(WDR72):c.514+272A>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276369	NM_182758.4(WDR72):c.340-305GTT[3]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 263002	NM_182758.4(WDR72):c.339+9A>G	WDR72	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 263001	NM_182758.4(WDR72):c.298A>G (p.Met100Val)	WDR72 (M100V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 263000	NM_182758.4(WDR72):c.261-8del	WDR72	Deletion (intron variant)	Amelogenesis Imperfecta, Recessive +3 more	GBenign/Likely benign
Select item 1179787	NM_182758.4(WDR72):c.261-85_261-84insCACTTAAGTGCAGCA	WDR72	Insertion (intron variant)	not provided	GBenign
Select item 1231693	NM_182758.4(WDR72):c.261-272G>A	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243598	NM_182758.4(WDR72):c.153+181T>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 36