12782[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 150183	GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1	ARL17A, ARL17B +13 more	Copy number loss	See cases	GBenign
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 1296567	NM_030753.5(WNT3):c.*8+232T>C	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318109	NM_030753.5(WNT3):c.*8+140G>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1476957	NM_030753.5(WNT3):c.1051G>A (p.Val351Met)	WNT3, LRRC37A2 (V351M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3333217	NM_030753.5(WNT3):c.1042A>G (p.Ile348Val)	LRRC37A2, WNT3 (I348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2870132	NM_030753.5(WNT3):c.997A>G (p.Ile333Val)	LRRC37A2, WNT3 (I333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414458	NM_030753.5(WNT3):c.969G>A (p.Thr323=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649970	NM_030753.5(WNT3):c.921C>T (p.Ile307=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651993	NM_030753.5(WNT3):c.915C>T (p.His305=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645711	NM_030753.5(WNT3):c.903T>C (p.Asn301=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766983	NM_030753.5(WNT3):c.877T>G (p.Phe293Val)	LRRC37A2, WNT3 (F293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385419	NM_030753.5(WNT3):c.872G>A (p.Gly291Asp)	LRRC37A2, WNT3 (G291D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647287	NM_030753.5(WNT3):c.843C>T (p.Pro281=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899927	NM_030753.5(WNT3):c.831C>T (p.Tyr277=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831662	NM_030753.5(WNT3):c.828C>T (p.Tyr276=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543915	NM_030753.5(WNT3):c.816G>A (p.Arg272=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723473	NM_030753.5(WNT3):c.810G>A (p.Thr270=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528068	NM_030753.5(WNT3):c.792G>A (p.Ser264=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667140	NM_030753.5(WNT3):c.774C>T (p.Thr258=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807800	NM_030753.5(WNT3):c.717C>T (p.Asp239=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568589	NM_030753.5(WNT3):c.711G>A (p.Lys237=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020713	NM_030753.5(WNT3):c.710A>G (p.Lys237Arg)	LRRC37A2, WNT3 (K237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891827	NM_030753.5(WNT3):c.690C>T (p.Ile230=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963821	NM_030753.5(WNT3):c.688A>G (p.Ile230Val)	LRRC37A2, WNT3 (I230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927824	NM_030753.5(WNT3):c.642C>T (p.Ser214=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189357	NM_030753.5(WNT3):c.638G>A (p.Gly213Asp)	LRRC37A2, WNT3 (G213D)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2112947	NM_030753.5(WNT3):c.589-7C>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318001	NM_030753.5(WNT3):c.589-210G>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919611	NM_030753.5(WNT3):c.588+20C>T	WNT3, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630899	NM_030753.5(WNT3):c.588+18C>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668911	NM_030753.5(WNT3):c.588+13A>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576607	NM_030753.5(WNT3):c.588+9G>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020700	NM_030753.5(WNT3):c.588+8del	LRRC37A2, WNT3	Deletion (intron variant)	not provided	GLikely benign
Select item 2181903	NM_030753.5(WNT3):c.552G>C (p.Ser184=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976867	NM_030753.5(WNT3):c.522_542dup (p.Arg183_Ser184insGluAsnArgProAspAlaArg)	LRRC37A2, WNT3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2868500	NM_030753.5(WNT3):c.540G>A (p.Pro180=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101720	NM_030753.5(WNT3):c.528C>A (p.Arg176=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594211	NM_030753.5(WNT3):c.519G>A (p.Ala173=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339072	NM_030753.5(WNT3):c.518C>T (p.Ala173Val)	LRRC37A2, WNT3 (A173V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1516851	NM_030753.5(WNT3):c.511G>C (p.Glu171Gln)	LRRC37A2, WNT3 (E171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351181	NM_030753.5(WNT3):c.510G>T (p.Arg170Ser)	LRRC37A2, WNT3 (R170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547889	NM_030753.5(WNT3):c.499T>C (p.Leu167=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019784	NM_030753.5(WNT3):c.484G>T (p.Ala162Ser)	LRRC37A2, WNT3 (A162S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034308	NM_030753.5(WNT3):c.464G>C (p.Trp155Ser)	LRRC37A2, WNT3 (W155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973842	NM_030753.5(WNT3):c.444G>T (p.Pro148=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967997	NM_030753.5(WNT3):c.436A>G (p.Lys146Glu)	LRRC37A2, WNT3 (K146E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286082	NM_030753.5(WNT3):c.429G>A (p.Ser143=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2315396	NM_030753.5(WNT3):c.413T>C (p.Ile138Thr)	LRRC37A2, WNT3 (I138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1985958	NM_030753.5(WNT3):c.396C>T (p.Ala132=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 502492	NM_030753.5(WNT3):c.390C>G (p.Ser130=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1912838	NM_030753.5(WNT3):c.378C>T (p.Ala126=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839615	NM_030753.5(WNT3):c.355G>A (p.Ala119Thr)	LRRC37A2, WNT3 (A119T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951796	NM_030753.5(WNT3):c.323-7C>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913770	NM_030753.5(WNT3):c.323-13G>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242139	NM_030753.5(WNT3):c.323-252C>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237348	NM_030753.5(WNT3):c.323-293G>C	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290887	NM_030753.5(WNT3):c.322+38T>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318339	NM_030753.5(WNT3):c.322+33_322+34del	LRRC37A2, WNT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1317816	NM_030753.5(WNT3):c.322+34T>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318201	NM_030753.5(WNT3):c.322+33C>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259133	NM_030753.5(WNT3):c.322+19dup	LRRC37A2, WNT3	Duplication (intron variant)	not provided	GBenign
Select item 1253429	NM_030753.5(WNT3):c.322+28A>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989424	NM_030753.5(WNT3):c.322+20G>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916811	NM_030753.5(WNT3):c.322+20G>C	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290338	NM_030753.5(WNT3):c.322+18A>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515621	NM_030753.5(WNT3):c.322+18del	LRRC37A2, WNT3	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1320553	NM_030753.5(WNT3):c.322+16T>G	WNT3, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318034	NM_030753.5(WNT3):c.322+15C>G	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694136	NM_030753.5(WNT3):c.318C>T (p.Asp106=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481339	NM_030753.5(WNT3):c.310G>A (p.Val104Ile)	LRRC37A2, WNT3 (V104I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534260	NM_030753.5(WNT3):c.309C>G (p.Pro103=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 594780	NM_030753.5(WNT3):c.309C>A (p.Pro103=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1521739	NM_030753.5(WNT3):c.286G>C (p.Asp96His)	LRRC37A2, WNT3 (D96H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189347	NM_030753.5(WNT3):c.271T>C (p.Cys91Arg)	LRRC37A2, WNT3 (C91R)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GLikely pathogenic
Select item 2543807	NM_030753.5(WNT3):c.260G>A (p.Arg87His)	LRRC37A2, WNT3 (R87H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2090142	NM_030753.5(WNT3):c.259C>T (p.Arg87Cys)	WNT3, LRRC37A2 (R87C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2647870	NM_030753.5(WNT3):c.258C>T (p.Gly86=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1354059	NM_030753.5(WNT3):c.254G>A (p.Arg85Gln)	LRRC37A2, WNT3 (R85Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089086	NM_030753.5(WNT3):c.253C>T (p.Arg85Trp)	LRRC37A2, WNT3 (R85W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13812	NM_030753.5(WNT3):c.247C>T (p.Gln83Ter)	LRRC37A2, WNT3 (Q83*)	Single nucleotide variant (nonsense)	Tetraamelia syndrome 1	GPathogenic
Select item 2414331	NM_030753.5(WNT3):c.216C>T (p.Gly72=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896464	NM_030753.5(WNT3):c.161A>G (p.Lys54Arg)	LRRC37A2, WNT3 (K54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506470	NM_030753.5(WNT3):c.136G>A (p.Gly46Ser)	LRRC37A2, WNT3 (G46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634965	NM_030753.5(WNT3):c.135C>T (p.Cys45=)	LRRC37A2, WNT3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2751989	NM_030753.5(WNT3):c.94G>A (p.Gly32Ser)	LRRC37A2, WNT3 (G32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978324	NM_030753.5(WNT3):c.81-10C>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630699	NM_030753.5(WNT3):c.81-16C>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981778	NM_030753.5(WNT3):c.81-17C>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316273	NM_030753.5(WNT3):c.81-194dup	LOC111589213, LRRC37A2 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 1318404	NM_030753.5(WNT3):c.80+72G>C	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317620	NM_030753.5(WNT3):c.80+53G>T	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832335	NM_030753.5(WNT3):c.80+10G>A	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019868	NM_030753.5(WNT3):c.80+3A>C	LRRC37A2, WNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002932	NM_030753.5(WNT3):c.73A>G (p.Ile25Val)	LRRC37A2, WNT3 (I25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290052	NM_030753.5(WNT3):c.50C>G (p.Thr17Ser)	LRRC37A2, WNT3 (T17S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373639	NM_030753.5(WNT3):c.23T>A (p.Leu8Gln)	LRRC37A2, WNT3 (L8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558793	NM_030753.5(WNT3):c.18C>T (p.Leu6=)	WNT3, LRRC37A2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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