"Ambry Genetics"[submitter] AND "AP4B1-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2460326	NM_015967.8(PTPN22):c.2378C>T (p.Ser793Leu)	AP4B1-AS1, PTPN22 (S765L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311442	NM_015967.8(PTPN22):c.2272A>G (p.Met758Val)	AP4B1-AS1, PTPN22 (M758V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401700	NM_015967.8(PTPN22):c.2267G>A (p.Arg756Gln)	AP4B1-AS1, PTPN22 (R728Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302402	NM_015967.8(PTPN22):c.2081C>A (p.Pro694Gln)	AP4B1-AS1, PTPN22 (P666Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267351	NM_015967.8(PTPN22):c.2081C>G (p.Pro694Arg)	AP4B1-AS1, PTPN22 (P670R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311444	NM_015967.8(PTPN22):c.2057T>C (p.Leu686Pro)	AP4B1-AS1, PTPN22 (L631P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612977	NM_015967.8(PTPN22):c.2027G>C (p.Ser676Thr)	AP4B1-AS1, PTPN22 (S621T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463975	NM_015967.8(PTPN22):c.1994T>C (p.Phe665Ser)	AP4B1-AS1, PTPN22 (F610S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2615905	NM_015967.8(PTPN22):c.1639T>C (p.Ser547Pro)	AP4B1-AS1, PTPN22 (S492P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507686	NM_015967.8(PTPN22):c.1583A>G (p.Tyr528Cys)	AP4B1-AS1, PTPN22 (Y473C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389742	NM_015967.8(PTPN22):c.1529G>A (p.Arg510His)	AP4B1-AS1, PTPN22 (R455H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149175	NM_015967.8(PTPN22):c.1411T>A (p.Tyr471Asn)	AP4B1-AS1, PTPN22 (Y471N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542294	NM_015967.8(PTPN22):c.1351C>G (p.Pro451Ala)	AP4B1-AS1, PTPN22 (P451A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490807	NM_015967.8(PTPN22):c.1301C>A (p.Ala434Glu)	AP4B1-AS1, PTPN22 (A379E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229989	NM_015967.8(PTPN22):c.1233G>T (p.Lys411Asn)	AP4B1-AS1, PTPN22 (K411N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277740	NM_015967.8(PTPN22):c.1130C>T (p.Ser377Phe)	PTPN22, AP4B1-AS1 (S322F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243807	NM_015967.8(PTPN22):c.1078G>A (p.Glu360Lys)	AP4B1-AS1, PTPN22 (E360K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223156	NM_015967.8(PTPN22):c.860T>C (p.Leu287Ser)	AP4B1-AS1, PTPN22 (L287S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149179	NM_015967.8(PTPN22):c.852T>A (p.Asn284Lys)	AP4B1-AS1, PTPN22 (N260K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149178	NM_015967.8(PTPN22):c.787C>T (p.Arg263Trp)	AP4B1-AS1, PTPN22 (R239W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535971	NM_015967.8(PTPN22):c.735G>A (p.Met245Ile)	AP4B1-AS1, PTPN22 (M221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311443	NM_015967.8(PTPN22):c.730T>C (p.Trp244Arg)	AP4B1-AS1, PTPN22 (W220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549051	NM_015967.8(PTPN22):c.699G>C (p.Arg233Ser)	AP4B1-AS1, PTPN22 (R233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322002	NM_015967.8(PTPN22):c.621G>C (p.Glu207Asp)	AP4B1-AS1, PTPN22 (E183D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457868	NM_015967.8(PTPN22):c.604A>G (p.Ile202Val)	AP4B1-AS1, PTPN22 (I178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525895	NM_015967.8(PTPN22):c.590A>G (p.Asp197Gly)	AP4B1-AS1, PTPN22 (D197G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149177	NM_015967.8(PTPN22):c.548G>A (p.Arg183Gln)	AP4B1-AS1, PTPN22 (R159Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456401	NM_015967.8(PTPN22):c.494G>C (p.Arg165Thr)	AP4B1-AS1, PTPN22 (R141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316822	NM_015967.8(PTPN22):c.422G>A (p.Arg141His)	AP4B1-AS1, PTPN22 (R141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346806	NM_015967.8(PTPN22):c.208C>T (p.Arg70Trp)	AP4B1-AS1, PTPN22 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205096	NM_015967.8(PTPN22):c.91C>A (p.Leu31Met)	AP4B1-AS1, PTPN22 (L31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260657	NM_001010922.3(BCL2L15):c.453C>A (p.Phe151Leu)	AP4B1-AS1, BCL2L15 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241928	NM_001010922.3(BCL2L15):c.307G>A (p.Asp103Asn)	AP4B1-AS1, BCL2L15 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133421	NM_001010922.3(BCL2L15):c.214G>T (p.Ala72Ser)	AP4B1-AS1, BCL2L15 (A72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260656	NM_001010922.3(BCL2L15):c.158T>C (p.Ile53Thr)	AP4B1-AS1, BCL2L15 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597735	NM_001010922.3(BCL2L15):c.148G>A (p.Val50Met)	AP4B1-AS1, BCL2L15 (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133422	NM_001010922.3(BCL2L15):c.77C>T (p.Thr26Ile)	AP4B1-AS1, BCL2L15 (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287700	NM_001010922.3(BCL2L15):c.37T>A (p.Cys13Ser)	AP4B1-AS1, BCL2L15 (C13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 588481	NM_001253852.3(AP4B1):c.2165G>C (p.Ser722Thr)	AP4B1-AS1, AP4B1 (S722T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589417	NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2549842	NM_001253852.3(AP4B1):c.2079C>A (p.Phe693Leu)	AP4B1, AP4B1-AS1 (F693L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589338	NM_001253852.3(AP4B1):c.2013G>A (p.Met671Ile)	AP4B1, AP4B1-AS1 (M671I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588726	NM_001253852.3(AP4B1):c.2011A>G (p.Met671Val)	AP4B1, AP4B1-AS1 (M671V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772016	NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589431	NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)	AP4B1-AS1, AP4B1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2622626	NM_001253852.3(AP4B1):c.1951G>A (p.Glu651Lys)	AP4B1, AP4B1-AS1 (E483K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1783114	NM_001253852.3(AP4B1):c.1945C>T (p.Arg649Trp)	AP4B1, AP4B1-AS1 (R550W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086838	NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)	AP4B1, AP4B1-AS1 (P479A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2604229	NM_001253852.3(AP4B1):c.1930C>G (p.Gln644Glu)	AP4B1, AP4B1-AS1 (Q545E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397732	NM_001253852.3(AP4B1):c.1922C>A (p.Ala641Asp)	AP4B1, AP4B1-AS1 (A542D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127546	NM_001253852.3(AP4B1):c.1871G>A (p.Arg624His)	AP4B1, AP4B1-AS1 (R624H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1038811	NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)	AP4B1, AP4B1-AS1 (P454L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 434224	NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)	AP4B1, AP4B1-AS1 (L620P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 2476813	NM_001253852.3(AP4B1):c.1823G>A (p.Arg608Lys)	AP4B1, AP4B1-AS1 (R608K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300878	NM_001253852.3(AP4B1):c.1774T>G (p.Ser592Ala)	AP4B1, AP4B1-AS1 (S592A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 588263	NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GLikely benign
Select item 220727	NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	AP4B1-AS1, AP4B1 (I575V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2257927	NM_001253852.3(AP4B1):c.1720A>C (p.Thr574Pro)	AP4B1, AP4B1-AS1 (T574P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778002	NM_001253852.3(AP4B1):c.1686A>G (p.Thr562=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 408759	NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)	AP4B1, AP4B1-AS1 (P548L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490364	NM_001253852.3(AP4B1):c.1634T>C (p.Leu545Ser)	AP4B1, AP4B1-AS1 (L377S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330932	NM_001253852.3(AP4B1):c.1630C>T (p.Leu544Phe)	AP4B1, AP4B1-AS1 (L544F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776664	NM_001253852.3(AP4B1):c.1624C>T (p.Leu542Phe)	AP4B1, AP4B1-AS1 (L443F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588773	NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 3300842	NM_001253852.3(AP4B1):c.1604G>T (p.Ser535Ile)	AP4B1, AP4B1-AS1 (S367I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147476	NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)	AP4B1, AP4B1-AS1 (I427V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1775518	NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)	AP4B1, AP4B1-AS1 (V356A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 589396	NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)	AP4B1, AP4B1-AS1 (R520H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 589547	NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)	AP4B1, AP4B1-AS1 (R520C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 588315	NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln)	AP4B1, AP4B1-AS1 (R512Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589638	NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr)	AP4B1, AP4B1-AS1 (M509T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2538515	NM_001253852.3(AP4B1):c.1490G>A (p.Arg497His)	AP4B1, AP4B1-AS1 (R497H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 157718	NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)	AP4B1, AP4B1-AS1 (L480S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +4 more	GBenign
Select item 588145	NM_001253852.3(AP4B1):c.1388A>T (p.Asn463Ile)	AP4B1-AS1, AP4B1 (N463I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 157717	NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47 +4 more	GBenign/Likely benign
Select item 521444	NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)	AP4B1, AP4B1-AS1 (R449* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1344432	NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)	AP4B1, AP4B1-AS1 (H278R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2179468	NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)	AP4B1, AP4B1-AS1 (G444D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554151	NM_001253852.3(AP4B1):c.1318A>C (p.Ile440Leu)	AP4B1, AP4B1-AS1 (I440L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841009	NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn)	AP4B1, AP4B1-AS1 (D333N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2294651	NM_001253852.3(AP4B1):c.1249G>A (p.Glu417Lys)	AP4B1, AP4B1-AS1 (E417K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1163150	NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr)	AP4B1, AP4B1-AS1 (C247Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 588907	NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)	AP4B1-AS1, AP4B1 (R406Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 157716	NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)	AP4B1, AP4B1-AS1 (I397V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 472193	NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)	AP4B1, AP4B1-AS1 (R393Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1, AP4B1-AS1 (T219fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 434225	NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)	AP4B1, AP4B1-AS1 (A361V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 1125511	NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GLikely benign
Select item 3127543	NM_001253852.3(AP4B1):c.1070C>T (p.Thr357Met)	AP4B1, AP4B1-AS1 (T189M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127542	NM_001253852.3(AP4B1):c.1067G>A (p.Cys356Tyr)	AP4B1, AP4B1-AS1 (C356Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1693977	NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)	AP4B1, AP4B1-AS1 (V180M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 2231123	NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)	AP4B1, AP4B1-AS1 (N245H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 3127541	NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)	AP4B1, AP4B1-AS1 (E244A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300858	NM_001253852.3(AP4B1):c.1018G>A (p.Val340Met)	AP4B1, AP4B1-AS1 (V241M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 696255	NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)	AP4B1, AP4B1-AS1 (S155L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GBenign
Select item 588102	NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)	AP4B1, AP4B1-AS1 (S323T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2373635	NM_001253852.3(AP4B1):c.952T>A (p.Phe318Ile)	AP4B1, AP4B1-AS1 (F150I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1766632	NM_001253852.3(AP4B1):c.933T>C (p.Phe311=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589086	NM_001253852.3(AP4B1):c.914A>G (p.His305Arg)	AP4B1, AP4B1-AS1 (H305R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 472197	NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign

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