"GeneDx"[submitter] AND "DVL1"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 2575783	NM_001330311.2(DVL1):c.2069T>A (p.Phe690Tyr)	DVL1 (F665Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327733	NM_001330311.2(DVL1):c.2060C>G (p.Pro687Arg)	DVL1 (P662R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168660	NM_001330311.2(DVL1):c.1974C>T (p.Pro658=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1309231	NM_001330311.2(DVL1):c.1883G>T (p.Ser628Ile)	DVL1 (S603I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505816	NM_001330311.2(DVL1):c.1846_1849dup (p.Arg617fs)	DVL1 (R592fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1304366	NM_001330311.2(DVL1):c.1849C>T (p.Arg617Ter)	DVL1 (R592* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 391198	NM_001330311.2(DVL1):c.1838G>A (p.Gly613Glu)	DVL1 (G588E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165908	NM_001330311.2(DVL1):c.1757C>G (p.Pro586Arg)	DVL1 (P561R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1686740	NM_001330311.2(DVL1):c.1751G>C (p.Arg584Pro)	DVL1 (R559P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504195	NM_001330311.2(DVL1):c.1731del (p.Ser578fs)	DVL1 (S578fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1627327	NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1200926	NM_001330311.2(DVL1):c.1715-29C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188053	NM_001330311.2(DVL1):c.1715-45G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252824	NM_001330311.2(DVL1):c.1715-47G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266078	NM_001330311.2(DVL1):c.1715-54C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198727	NM_001330311.2(DVL1):c.1715-150C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174351	NM_001330311.2(DVL1):c.1715-177C>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289639	NM_001330311.2(DVL1):c.1715-333C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277157	NM_001330311.2(DVL1):c.1714+241T>C	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243362	NM_001330311.2(DVL1):c.1714+79T>C	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1687673	NM_001330311.2(DVL1):c.1714+43C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 524041	NM_001330311.2(DVL1):c.1694_1706del (p.Thr565fs)	DVL1, LOC129929114 (T565fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1305839	NM_001330311.2(DVL1):c.1628C>G (p.Pro543Arg)	DVL1 (P518R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208045	NM_001330311.2(DVL1):c.1594del (p.Trp532fs)	DVL1 (W507fs +1 more)	Deletion (frameshift variant)	Autosomal dominant Robinow syndrome 2 +1 more	GPathogenic
Select item 1313541	NM_001330311.2(DVL1):c.1592C>T (p.Pro531Leu)	DVL1 (P506L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1220133	NM_001330311.2(DVL1):c.1507+28G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567230	NM_001330311.2(DVL1):c.1507+15C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 445553	NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)	DVL1 (T431A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +2 more	GLikely benign
Select item 3365784	NM_001330311.2(DVL1):c.1359G>A (p.Trp453Ter)	DVL1 (W428* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1699698	NM_001330311.2(DVL1):c.1345G>A (p.Asp449Asn)	DVL1 (D424N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178027	NM_001330311.2(DVL1):c.1339+28G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311163	NM_001330311.2(DVL1):c.1339G>A (p.Gly447Arg)	DVL1 (G422R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373812	NM_001330311.2(DVL1):c.1324_1331dup (p.Val445fs)	DVL1 (V420fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1205353	NM_001330311.2(DVL1):c.1208-103G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230234	NM_001330311.2(DVL1):c.1208-209T>C	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233391	NM_001330311.2(DVL1):c.1207+317T>C	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223353	NM_001330311.2(DVL1):c.1207+126C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307984	NM_001330311.2(DVL1):c.1204_1207+6del	DVL1	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2573524	NM_001330311.2(DVL1):c.1112C>G (p.Thr371Arg)	DVL1 (T371R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391268	NM_001330311.2(DVL1):c.1106C>T (p.Ala369Val)	DVL1 (A369V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342831	NM_001330311.2(DVL1):c.1054+5G>T	DVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 718892	NM_001330311.2(DVL1):c.1047C>T (p.Val349=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716792	NM_001330311.2(DVL1):c.1044C>T (p.Thr348=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1259206	NM_001330311.2(DVL1):c.910-99C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210473	NM_001330311.2(DVL1):c.909+46C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574782	NM_001330311.2(DVL1):c.764A>T (p.Asn255Ile)	DVL1 (N255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211330	NM_001330311.2(DVL1):c.700-34C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278099	NM_001330311.2(DVL1):c.606-73G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282419	NM_001330311.2(DVL1):c.606-194C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259478	NM_001330311.2(DVL1):c.606-249TG[4]	DVL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1221858	NM_001330311.2(DVL1):c.605+303_605+304del	DVL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1230510	NM_001330311.2(DVL1):c.605+235C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227921	NM_001330311.2(DVL1):c.605+119TG[3]	DVL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1277502	NM_001330311.2(DVL1):c.605+109TG[3]	DVL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1185328	NM_001330311.2(DVL1):c.605+70GT[4]	DVL1	Microsatellite (intron variant)	Autosomal dominant Robinow syndrome 2 +1 more	GBenign
Select item 376849	NM_001330311.2(DVL1):c.605+2TG[2]	DVL1	Microsatellite (splice donor variant)	not provided	GBenign/Likely benign
Select item 732096	NM_001330311.2(DVL1):c.473G>A (p.Arg158Gln)	DVL1 (R158Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1169213	NM_001330311.2(DVL1):c.469G>A (p.Ala157Thr)	DVL1 (A157T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1204522	NM_001330311.2(DVL1):c.425_428del (p.Ser142fs)	DVL1 (S142fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3369927	NM_001330311.2(DVL1):c.394G>A (p.Asp132Asn)	DVL1 (D132N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166515	NM_001330311.2(DVL1):c.366A>G (p.Pro122=)	DVL1	Single nucleotide variant (synonymous variant)	Autosomal dominant Robinow syndrome 2 +1 more	GBenign
Select item 1261354	NM_001330311.2(DVL1):c.363-60G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226399	NM_001330311.2(DVL1):c.362+94C>A	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169788	NM_001330311.2(DVL1):c.362+8C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1355794	NM_001330311.2(DVL1):c.307C>T (p.Pro103Ser)	DVL1 (P103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068408	NM_001330311.2(DVL1):c.296A>G (p.His99Arg)	DVL1 (H99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788936	NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)	DVL1 (A91V)	Single nucleotide variant (missense variant)	Autosomal dominant Robinow syndrome 2 +2 more	GBenign/Likely benign
Select item 1179702	NM_001330311.2(DVL1):c.241-97G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216400	NM_001330311.2(DVL1):c.240+22C>T	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202732	NM_001330311.2(DVL1):c.177G>A (p.Val59=)	DVL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1185396	NM_001330311.2(DVL1):c.171-99A>G	DVL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1217551	NM_001330311.2(DVL1):c.171-108_171-107del	DVL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1244414	NM_001330311.2(DVL1):c.171-115G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190386	NM_001330311.2(DVL1):c.170+137G>A	DVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303381	NM_001330311.2(DVL1):c.152C>T (p.Ser51Phe)	DVL1 (S51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373023	NM_001330311.2(DVL1):c.141C>A (p.Phe47Leu)	DVL1 (F47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343334	NM_001330311.2(DVL1):c.109C>T (p.Leu37Phe)	DVL1 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185397	NM_001330311.2(DVL1):c.-45C>T	DVL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1199702	NM_001330311.2(DVL1):c.-56G>A	DVL1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic

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Items: 86