"Invitae"[submitter] AND "HBA-LCR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1615224	NM_001077350.3(NPRL3):c.1544+20T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1455390	NM_001077350.3(NPRL3):c.1544+19G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 446045	NM_001077350.3(NPRL3):c.1544+18C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign/Likely benign
Select item 1632875	NM_001077350.3(NPRL3):c.1544+12T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 863785	NM_001077350.3(NPRL3):c.1544+3_1544+5del	HBA-LCR, NPRL3	Deletion (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1002237	NM_001077350.3(NPRL3):c.1544+1del	HBA-LCR, NPRL3	Deletion (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2106716	NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1606480	NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1059376	NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val)	HBA-LCR, NPRL3 (M333V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1139799	NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1422500	NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His)	HBA-LCR, NPRL3 (R332H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1417315	NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys)	HBA-LCR, NPRL3 (R332C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1407261	NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile)	HBA-LCR, NPRL3 (L485I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 542797	NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)	HBA-LCR, NPRL3 (Q505fs +3 more)	Indel (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 542804	NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr)	HBA-LCR, NPRL3 (N481Y +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign/Likely benign
Select item 1059077	NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del)	HBA-LCR, NPRL3	Deletion (inframe_deletion)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2004618	NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)	HBA-LCR, NPRL3 (A426S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1413638	NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr)	HBA-LCR, NPRL3 (A425T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1090731	NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2860852	NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)	HBA-LCR, NPRL3 (P323L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1117657	NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1313313	NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val)	HBA-LCR, NPRL3 (I319V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445596	NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)	HBA-LCR, NPRL3 (A471T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign/Likely benign
Select item 542793	NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 572036	NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)	HBA-LCR, NPRL3 (R470H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 659557	NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)	HBA-LCR, NPRL3 (R316C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1452513	NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter)	HBA-LCR, NPRL3 (E416* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1961976	NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1531803	NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1164852	NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs)	HBA-LCR, NPRL3 (L311fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GBenign
Select item 2016572	NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)	HBA-LCR, NPRL3 (L311fs +3 more)	Insertion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1166782	NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)	HBA-LCR, NPRL3	Variation (no sequence alteration)	Epilepsy, familial focal, with variable foci 3	GBenign
Select item 1592802	NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2805369	NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)	HBA-LCR, NPRL3 (N485K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1097721	NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 580875	NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)	HBA-LCR, NPRL3 (T458M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 834118	NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)	HBA-LCR, NPRL3 (R456S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1501103	NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys)	HBA-LCR, NPRL3 (N300K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1015443	NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg)	HBA-LCR, NPRL3 (L453R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1395514	NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu)	HBA-LCR, NPRL3 (P399L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 744454	NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2734935	NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)	HBA-LCR, NPRL3 (S398fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1186271	NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu)	HBA-LCR, NPRL3 (S297L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 2849102	NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)	HBA-LCR, NPRL3 (G449A +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1041645	NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg)	HBA-LCR, NPRL3 (G474R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 542812	NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	NPRL3-related condition +1 more	GLikely benign
Select item 2714645	NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1547058	NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 643202	NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)	HBA-LCR, NPRL3 (A443T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1142303	NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2766953	NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)	HBA-LCR, NPRL3 (D386E +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1991078	NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 944018	NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)	HBA-LCR, NPRL3 (L380fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2820516	NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)	HBA-LCR, NPRL3 (M431I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2815858	NM_001077350.3(NPRL3):c.1352-10_1368del	HBA-LCR, NPRL3	Deletion (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2130272	NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)	HBA-LCR, NPRL3 (M431I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1088365	NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2791290	NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)	HBA-LCR, NPRL3 (D275N +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 930426	NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 542808	NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1551880	NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2716517	NM_001077350.3(NPRL3):c.1352-5C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1043003	NM_001077350.3(NPRL3):c.1352-5C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2143888	NM_001077350.3(NPRL3):c.1352-6C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1158841	NM_001077350.3(NPRL3):c.1352-9C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1096315	NM_001077350.3(NPRL3):c.1352-9C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2792507	NM_001077350.3(NPRL3):c.1352-10T>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1656587	NM_001077350.3(NPRL3):c.1352-14C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1618561	NM_001077350.3(NPRL3):c.1352-15C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2964423	NM_001077350.3(NPRL3):c.1352-17A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1468070	NM_001077350.3(NPRL3):c.1217_1351+24delinsC	HBA-LCR, NPRL3	Indel (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 1529624	NM_001077350.3(NPRL3):c.1351+20G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2116454	NM_001077350.3(NPRL3):c.1351+19C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1222841	NM_001077350.3(NPRL3):c.1351+19C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2062512	NM_001077350.3(NPRL3):c.1351+16C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1992502	NM_001077350.3(NPRL3):c.1351+11dup	HBA-LCR, NPRL3	Duplication (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2741172	NM_001077350.3(NPRL3):c.1351+11C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2879394	NM_001077350.3(NPRL3):c.1351+9C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 733575	NM_001077350.3(NPRL3):c.1351+7C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GBenign/Likely benign
Select item 2861865	NM_001077350.3(NPRL3):c.1351+3A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1061922	NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser)	HBA-LCR, NPRL3 (P271S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2034852	NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1099694	NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2897124	NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)	HBA-LCR, NPRL3 (L367P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 854706	NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs)	HBA-LCR, NPRL3 (L266fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1015580	NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)	HBA-LCR, NPRL3 (A265T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1101742	NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GLikely benign
Select item 657411	NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser)	HBA-LCR, NPRL3 (P417S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1082289	NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1500544	NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met)	HBA-LCR, NPRL3 (T262M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 476220	NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2087694	NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)	HBA-LCR, NPRL3 (L361I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1004949	NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)	HBA-LCR, NPRL3 (L260F +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1061334	NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg)	HBA-LCR, NPRL3 (S259R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 581760	NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn)	HBA-LCR, NPRL3 (S413N +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2194416	NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)	HBA-LCR, NPRL3 (R412H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 850957	NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys)	HBA-LCR, NPRL3 (R412C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 847167	NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val)	HBA-LCR, NPRL3 (G411V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 952886	NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser)	HBA-LCR, NPRL3 (G358S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1549810	NM_001077350.3(NPRL3):c.1305C>T (p.Gly435=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign

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