"GeneDx"[submitter] AND "LOC107303338"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 1289280	NM_001018115.3(FANCD2):c.65-263T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235759	NM_001018115.3(FANCD2):c.65-174TTTG[3]	FANCD2, LOC107303338	Microsatellite (intron variant)	not provided	GBenign
Select item 456361	NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)	FANCD2, LOC107303338 (Q26H)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 456349	NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	FANCD2, LOC107303338 (T61M)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 1234112	NM_001018115.3(FANCD2):c.205+257C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174382	NM_001018115.3(FANCD2):c.206-246del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 1286016	NM_001018115.3(FANCD2):c.206-170T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251762	NM_001018115.3(FANCD2):c.206-162A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243199	NM_001018115.3(FANCD2):c.206-127_206-124dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1179266	NM_001018115.3(FANCD2):c.206-126_206-124dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1219567	NM_001018115.3(FANCD2):c.206-124del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GLikely benign
Select item 2662459	NM_001018115.3(FANCD2):c.274-12A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 241738	NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)	FANCD2, LOC107303338 (I104T)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 1239102	NM_001018115.3(FANCD2):c.377+164G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443524	NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)	FANCD2, LOC107303338 (A129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1695552	NM_001018115.3(FANCD2):c.413T>C (p.Leu138Pro)	FANCD2, LOC107303338 (L138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271812	NM_001018115.3(FANCD2):c.438+58A>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259039	NM_001018115.3(FANCD2):c.438+106T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202705	NM_001018115.3(FANCD2):c.439-294A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283174	NM_001018115.3(FANCD2):c.439-180A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257083	NM_001018115.3(FANCD2):c.439-16A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 577155	NM_001018115.3(FANCD2):c.491+1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1242845	NM_001018115.3(FANCD2):c.491+224A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275532	NM_001018115.3(FANCD2):c.491+266G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264417	NM_001018115.3(FANCD2):c.492-241T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134327	NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)	FANCD2, LOC107303338 (I172M)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 257084	NM_001018115.3(FANCD2):c.571-31G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 257086	NM_001018115.3(FANCD2):c.695+16G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 1204375	NM_001018115.3(FANCD2):c.695+102A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296911	NM_001018115.3(FANCD2):c.695+205_695+207del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 1275212	NM_001018115.3(FANCD2):c.695+206_695+207del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 1203696	NM_001018115.3(FANCD2):c.696-405A>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275644	NM_001018115.3(FANCD2):c.696-342G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439691	NM_001018115.3(FANCD2):c.696-138C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1016505	NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro)	FANCD2, LOC107303338 (L259P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 929646	NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	FANCD2, LOC107303338 (K261M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1283177	NM_001018115.3(FANCD2):c.783+147dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1804589	NM_001018115.3(FANCD2):c.783+133_783+134insC	FANCD2, LOC107303338	Insertion (intron variant)	not provided	GLikely benign
Select item 1251282	NM_001018115.3(FANCD2):c.783+146_783+147del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 1248258	NM_001018115.3(FANCD2):c.783+151_783+152insG	FANCD2, LOC107303338	Insertion (intron variant)	not provided	GBenign
Select item 1255041	NM_001018115.3(FANCD2):c.783+206dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1290368	NM_001018115.3(FANCD2):c.783+206del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 1211553	NM_001018115.3(FANCD2):c.783+223_783+224del	FANCD2, LOC107303338	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1253859	NM_001018115.3(FANCD2):c.784-319A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249236	NM_001018115.3(FANCD2):c.784-308G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257087	NM_001018115.3(FANCD2):c.784-19C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1300850	NM_001018115.3(FANCD2):c.888+49A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 842492	NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)	FANCD2, LOC107303338 (K326E)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 241740	NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)	FANCD2, LOC107303338 (A329G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1300863	NM_001018115.3(FANCD2):c.989+73A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226898	NM_001018115.3(FANCD2):c.990-133G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257088	NM_001018115.3(FANCD2):c.990-38C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D2 +3 more	GBenign
Select item 381559	NM_001018115.3(FANCD2):c.990-1G>A	FANCD2, LOC107303338	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 935595	NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)	FANCD2, LOC107303338 (I360fs)	Insertion (frameshift variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 1251874	NM_001018115.3(FANCD2):c.1098+75C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257065	NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	LOC107303338, FANCD2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1267415	NM_001018115.3(FANCD2):c.1134+39T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1220979	NM_001018115.3(FANCD2):c.1134+76G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228329	NM_001018115.3(FANCD2):c.1134+268G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229973	NM_001018115.3(FANCD2):c.1135-305G>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179553	NM_001018115.3(FANCD2):c.1135-253A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282175	NM_001018115.3(FANCD2):c.1135-248T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254584	NM_001018115.3(FANCD2):c.1135-64T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 342265	NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys)	FANCD2, LOC107303338 (S422C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1228887	NM_001018115.3(FANCD2):c.1278+36C>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291441	NM_001018115.3(FANCD2):c.1279-131T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257066	NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val)	FANCD2, LOC107303338 (L446V)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134311	NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	FANCD2, LOC107303338 (L456R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 342267	NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 342268	NM_001018115.3(FANCD2):c.1413+3A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1296939	NM_001018115.3(FANCD2):c.1414-200A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257068	NM_001018115.3(FANCD2):c.1414-23T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 241732	NM_001018115.3(FANCD2):c.1440T>C (p.His480=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257070	NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=)	FANCD2, LOC107303338	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 1244631	NM_001018115.3(FANCD2):c.1545+210C>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198271	NM_001018115.3(FANCD2):c.1546-266T>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248324	NM_001018115.3(FANCD2):c.1546-247G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300336	NM_001018115.3(FANCD2):c.1546-81T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1254158	NM_001018115.3(FANCD2):c.1546-58A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 419854	NM_001018115.3(FANCD2):c.1656+1G>T	FANCD2, LOC107303338	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1294503	NM_001018115.3(FANCD2):c.1656+38dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1275411	NM_001018115.3(FANCD2):c.1656+237T>C	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233328	NM_001018115.3(FANCD2):c.1657-326C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300858	NM_001018115.3(FANCD2):c.1657-219G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279487	NM_001018115.3(FANCD2):c.1657-112dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1221097	NM_001018115.3(FANCD2):c.1657-113_1657-112dup	FANCD2, LOC107303338	Duplication (intron variant)	not provided	GBenign
Select item 1250616	NM_001018115.3(FANCD2):c.1766+290T>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274141	NM_001018115.3(FANCD2):c.1767-260G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232494	NM_001018115.3(FANCD2):c.1767-137A>G	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253542	NM_001018115.3(FANCD2):c.1767-15del	FANCD2, LOC107303338	Deletion (intron variant)	not provided	GBenign
Select item 134313	NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	FANCD2, LOC107303338 (P593S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D2 +4 more	GConflicting classifications of pathogenicity
Select item 1251257	NM_001018115.3(FANCD2):c.1827+139C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249047	NM_001018115.3(FANCD2):c.1827+291A>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203909	NM_001018115.3(FANCD2):c.1827+301G>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177825	NM_001018115.3(FANCD2):c.1828-326G>A	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300357	NM_001018115.3(FANCD2):c.1828-293C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253746	NM_001018115.3(FANCD2):c.1828-77C>T	FANCD2, LOC107303338	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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