"Ambry Genetics"[submitter] AND "ADAMTSL4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079546	NM_019032.6(ADAMTSL4):c.134G>A (p.Gly45Asp)	ADAMTSL4, ADAMTSL4-AS2 (G45D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292518	NM_019032.6(ADAMTSL4):c.232C>T (p.Leu78Phe)	ADAMTSL4, ADAMTSL4-AS2 (L78F)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2221250	NM_019032.6(ADAMTSL4):c.251T>C (p.Leu84Pro)	ADAMTSL4, ADAMTSL4-AS2 (L84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2891874	NM_019032.6(ADAMTSL4):c.259C>T (p.Arg87Trp)	ADAMTSL4, ADAMTSL4-AS2 (R87W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3079765	NM_019032.6(ADAMTSL4):c.356G>A (p.Arg119Gln)	ADAMTSL4, ADAMTSL4-AS2 (R119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981966	NM_019032.6(ADAMTSL4):c.403G>A (p.Glu135Lys)	ADAMTSL4, ADAMTSL4-AS2 (E135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1490549	NM_019032.6(ADAMTSL4):c.455T>A (p.Ile152Asn)	ADAMTSL4, ADAMTSL4-AS2 (I152N)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1430757	NM_019032.6(ADAMTSL4):c.460C>A (p.Pro154Thr)	ADAMTSL4, ADAMTSL4-AS2 (P154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303095	NM_019032.6(ADAMTSL4):c.466A>G (p.Met156Val)	ADAMTSL4, ADAMTSL4-AS2 (M156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364828	NM_019032.6(ADAMTSL4):c.499C>G (p.Pro167Ala)	ADAMTSL4, ADAMTSL4-AS2 (P167A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616551	NM_019032.6(ADAMTSL4):c.503T>C (p.Leu168Pro)	ADAMTSL4, ADAMTSL4-AS2 (L168P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292519	NM_019032.6(ADAMTSL4):c.514C>T (p.Arg172Cys)	ADAMTSL4, ADAMTSL4-AS2 (R172C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3079782	NM_019032.6(ADAMTSL4):c.567A>C (p.Arg189Ser)	ADAMTSL4, ADAMTSL4-AS2 (R189S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545162	NM_019032.6(ADAMTSL4):c.592A>T (p.Thr198Ser)	ADAMTSL4, ADAMTSL4-AS2 (T198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2077407	NM_019032.6(ADAMTSL4):c.595C>T (p.Pro199Ser)	ADAMTSL4, ADAMTSL4-AS2 (P199S)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1598898	NM_019032.6(ADAMTSL4):c.615C>T (p.Ser205=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2465768	NM_019032.6(ADAMTSL4):c.635C>A (p.Thr212Asn)	ADAMTSL4, ADAMTSL4-AS2 (T212N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079798	NM_019032.6(ADAMTSL4):c.676C>A (p.Pro226Thr)	ADAMTSL4, ADAMTSL4-AS2 (P226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1408599	NM_019032.6(ADAMTSL4):c.748C>T (p.Arg250Trp)	ADAMTSL4, ADAMTSL4-AS2 (R250W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 292522	NM_019032.6(ADAMTSL4):c.749G>A (p.Arg250Gln)	ADAMTSL4, ADAMTSL4-AS2 (R250Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1930635	NM_019032.6(ADAMTSL4):c.788C>T (p.Pro263Leu)	ADAMTSL4, ADAMTSL4-AS2 (P263L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484067	NM_019032.6(ADAMTSL4):c.794C>T (p.Pro265Leu)	ADAMTSL4, ADAMTSL4-AS2 (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1379137	NM_019032.6(ADAMTSL4):c.827G>A (p.Arg276His)	ADAMTSL4, ADAMTSL4-AS2 (R276H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2210831	NM_019032.6(ADAMTSL4):c.845G>C (p.Arg282Pro)	ADAMTSL4, ADAMTSL4-AS2 (R282P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079815	NM_019032.6(ADAMTSL4):c.850C>T (p.Pro284Ser)	ADAMTSL4, ADAMTSL4-AS2 (P284S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496434	NM_019032.6(ADAMTSL4):c.907C>T (p.Pro303Ser)	ADAMTSL4, ADAMTSL4-AS2 (P303S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1517218	NM_019032.6(ADAMTSL4):c.956C>T (p.Thr319Met)	ADAMTSL4, ADAMTSL4-AS2 (T319M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2530663	NM_019032.6(ADAMTSL4):c.986A>G (p.Glu329Gly)	ADAMTSL4, ADAMTSL4-AS2 (E329G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346252	NM_019032.6(ADAMTSL4):c.992A>G (p.Asp331Gly)	ADAMTSL4, ADAMTSL4-AS2 (D331G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292526	NM_019032.6(ADAMTSL4):c.1009G>A (p.Ala337Thr)	ADAMTSL4, ADAMTSL4-AS2 (A337T)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 1440298	NM_019032.6(ADAMTSL4):c.1033G>A (p.Gly345Ser)	ADAMTSL4, ADAMTSL4-AS2 (G345S)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2180304	NM_019032.6(ADAMTSL4):c.1040A>G (p.His347Arg)	ADAMTSL4, ADAMTSL4-AS2 (H347R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3268586	NM_019032.6(ADAMTSL4):c.1043C>G (p.Ala348Gly)	ADAMTSL4, ADAMTSL4-AS2 (A348G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1360659	NM_019032.6(ADAMTSL4):c.1138C>T (p.Pro380Ser)	ADAMTSL4, ADAMTSL4-AS2 (P380S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875282	NM_019032.6(ADAMTSL4):c.1142C>G (p.Pro381Arg)	ADAMTSL4, ADAMTSL4-AS2 (P381R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1953256	NM_019032.6(ADAMTSL4):c.1249C>T (p.Arg417Cys)	ADAMTSL4, ADAMTSL4-AS2 (R440C +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 2327760	NM_019032.6(ADAMTSL4):c.1259T>G (p.Leu420Arg)	ADAMTSL4, ADAMTSL4-AS2 (L443R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079533	NM_019032.6(ADAMTSL4):c.1273C>T (p.Arg425Cys)	ADAMTSL4, ADAMTSL4-AS2 (R448C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115230	NM_019032.6(ADAMTSL4):c.1282C>T (p.Arg428Cys)	ADAMTSL4, ADAMTSL4-AS2 (R451C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922580	NM_019032.6(ADAMTSL4):c.1289A>G (p.Tyr430Cys)	ADAMTSL4, ADAMTSL4-AS2 (Y453C +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GConflicting classifications of pathogenicity
Select item 1901145	NM_019032.6(ADAMTSL4):c.1295G>A (p.Arg432His)	ADAMTSL4-AS2, ADAMTSL4 (R455H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 876243	NM_019032.6(ADAMTSL4):c.1301C>T (p.Thr434Ile)	ADAMTSL4, ADAMTSL4-AS2 (T434I +1 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GUncertain significance
Select item 2283916	NM_019032.6(ADAMTSL4):c.1315G>A (p.Asp439Asn)	ADAMTSL4, ADAMTSL4-AS2 (D462N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2759953	NM_019032.6(ADAMTSL4):c.1354G>A (p.Val452Met)	ADAMTSL4, ADAMTSL4-AS2 (V475M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3079551	NM_019032.6(ADAMTSL4):c.1363C>T (p.Arg455Cys)	ADAMTSL4, ADAMTSL4-AS2 (R455C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876244	NM_019032.6(ADAMTSL4):c.1388G>C (p.Gly463Ala)	ADAMTSL4-AS2, ADAMTSL4 (G463A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1396282	NM_019032.6(ADAMTSL4):c.1409G>A (p.Arg470His)	ADAMTSL4, ADAMTSL4-AS2 (R493H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1422140	NM_019032.6(ADAMTSL4):c.1432G>A (p.Gly478Arg)	ADAMTSL4, ADAMTSL4-AS2 (G478R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413378	NM_019032.6(ADAMTSL4):c.1444T>C (p.Ser482Pro)	ADAMTSL4, ADAMTSL4-AS2 (S482P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3079565	NM_019032.6(ADAMTSL4):c.1561A>G (p.Ser521Gly)	ADAMTSL4, ADAMTSL4-AS2 (S521G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079572	NM_019032.6(ADAMTSL4):c.1624G>A (p.Val542Met)	ADAMTSL4, ADAMTSL4-AS2 (V565M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2421471	NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=)	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1394731	NM_019032.6(ADAMTSL4):c.1654G>A (p.Gly552Arg)	ADAMTSL4, ADAMTSL4-AS2 (G552R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2488291	NM_019032.6(ADAMTSL4):c.1667G>A (p.Arg556Gln)	ADAMTSL4, ADAMTSL4-AS2 (R556Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1921248	NM_019032.6(ADAMTSL4):c.1700G>A (p.Gly567Glu)	ADAMTSL4, ADAMTSL4-AS2 (G567E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237094	NM_019032.6(ADAMTSL4):c.1702G>A (p.Glu568Lys)	ADAMTSL4, ADAMTSL4-AS2 (E568K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416662	NM_019032.6(ADAMTSL4):c.1712C>T (p.Ser571Leu)	ADAMTSL4, ADAMTSL4-AS2 (S571L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3079587	NM_019032.6(ADAMTSL4):c.1768A>T (p.Asn590Tyr)	ADAMTSL4, ADAMTSL4-AS2 (N590Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902645	NM_019032.6(ADAMTSL4):c.1859C>T (p.Pro620Leu)	ADAMTSL4, ADAMTSL4-AS2 (P620L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1515177	NM_019032.6(ADAMTSL4):c.1874T>G (p.Val625Gly)	ADAMTSL4, ADAMTSL4-AS2 (V625G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 876369	NM_019032.6(ADAMTSL4):c.1892C>T (p.Pro631Leu)	ADAMTSL4, ADAMTSL4-AS2 (P654L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1408588	NM_019032.6(ADAMTSL4):c.1909C>T (p.Arg637Trp)	ADAMTSL4-AS2, ADAMTSL4 (R637W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2395035	NM_019032.6(ADAMTSL4):c.1910G>A (p.Arg637Gln)	ADAMTSL4, ADAMTSL4-AS2 (R637Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 634507	NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met)	ADAMTSL4, ADAMTSL4-AS2 (V646M +1 more)	Single nucleotide variant (missense variant +1 more)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 1370805	NM_019032.6(ADAMTSL4):c.1957G>A (p.Ala653Thr)	ADAMTSL4, ADAMTSL4-AS2 (A676T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1399129	NM_019032.6(ADAMTSL4):c.1974G>C (p.Arg658Ser)	ADAMTSL4, ADAMTSL4-AS2 (Q619H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2053952	NM_019032.6(ADAMTSL4):c.1997C>T (p.Ala666Val)	ADAMTSL4, ADAMTSL4-AS2 (A627V +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2137932	NM_019032.6(ADAMTSL4):c.2009G>A (p.Arg670Gln)	ADAMTSL4, ADAMTSL4-AS2 (R670Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2070489	NM_019032.6(ADAMTSL4):c.2041G>A (p.Gly681Arg)	ADAMTSL4, ADAMTSL4-AS2 (G642R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 3079616	NM_019032.6(ADAMTSL4):c.2080C>G (p.Arg694Gly)	ADAMTSL4, ADAMTSL4-AS2 (R655G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874415	NM_019032.6(ADAMTSL4):c.2107C>T (p.Arg703Cys)	ADAMTSL4, ADAMTSL4-AS2 (R703C +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 874416	NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)	ADAMTSL4-AS2, ADAMTSL4 (A668V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2540042	NM_019032.6(ADAMTSL4):c.2168G>A (p.Cys723Tyr)	ADAMTSL4, ADAMTSL4-AS2 (C684Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1474436	NM_019032.6(ADAMTSL4):c.2210G>A (p.Arg737His)	ADAMTSL4 (R760H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 875327	NM_019032.6(ADAMTSL4):c.2251C>T (p.Arg751Trp)	ADAMTSL4 (R751W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1356143	NM_019032.6(ADAMTSL4):c.2263G>T (p.Gly755Trp)	ADAMTSL4 (G778W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2193821	NM_019032.6(ADAMTSL4):c.2266G>A (p.Gly756Arg)	ADAMTSL4 (G717R +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 2145608	NM_019032.6(ADAMTSL4):c.2276C>T (p.Ser759Phe)	ADAMTSL4 (S720F +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +3 more	GUncertain significance
Select item 875328	NM_019032.6(ADAMTSL4):c.2279C>T (p.Ser760Leu)	ADAMTSL4 (S721L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 875375	NM_019032.6(ADAMTSL4):c.2293C>T (p.Arg765Cys)	ADAMTSL4 (R788C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3079645	NM_019032.6(ADAMTSL4):c.2308C>T (p.Pro770Ser)	ADAMTSL4 (P793S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401064	NM_019032.6(ADAMTSL4):c.2309C>T (p.Pro770Leu)	ADAMTSL4 (P731L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2165533	NM_019032.6(ADAMTSL4):c.2342G>A (p.Arg781His)	ADAMTSL4 (R804H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1947878	NM_019032.6(ADAMTSL4):c.2389G>A (p.Val797Met)	ADAMTSL4 (V797M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2534931	NM_019032.6(ADAMTSL4):c.2390T>G (p.Val797Gly)	ADAMTSL4 (V758G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1349227	NM_019032.6(ADAMTSL4):c.2425C>T (p.Arg809Cys)	ADAMTSL4 (R809C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2540938	NM_019032.6(ADAMTSL4):c.2432T>C (p.Val811Ala)	ADAMTSL4 (V772A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044134	NM_019032.6(ADAMTSL4):c.2440A>G (p.Asn814Asp)	ADAMTSL4 (N837D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3079677	NM_019032.6(ADAMTSL4):c.2441A>C (p.Asn814Thr)	ADAMTSL4 (N775T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521177	NM_019032.6(ADAMTSL4):c.2443G>A (p.Gly815Ser)	ADAMTSL4 (G815S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170985	NM_019032.6(ADAMTSL4):c.2471C>T (p.Ala824Val)	ADAMTSL4 (A785V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429210	NM_019032.6(ADAMTSL4):c.2480C>T (p.Pro827Leu)	ADAMTSL4 (P788L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1912281	NM_019032.6(ADAMTSL4):c.2491C>G (p.Pro831Ala)	ADAMTSL4 (P831A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414529	NM_019032.6(ADAMTSL4):c.2545G>A (p.Asp849Asn)	ADAMTSL4 (D810N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1444709	NM_019032.6(ADAMTSL4):c.2569G>A (p.Glu857Lys)	ADAMTSL4 (E857K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 292557	NM_019032.6(ADAMTSL4):c.2591G>A (p.Arg864Gln)	ADAMTSL4 (R864Q +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis et pupillae +3 more	GUncertain significance
Select item 2600704	NM_019032.6(ADAMTSL4):c.2608C>T (p.Leu870Phe)	ADAMTSL4 (L870F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539453	NM_019032.6(ADAMTSL4):c.2629G>C (p.Gly877Arg)	ADAMTSL4 (G838R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1447397	NM_019032.6(ADAMTSL4):c.2629G>A (p.Gly877Arg)	ADAMTSL4 (G877R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2588480	NM_019032.6(ADAMTSL4):c.2659A>G (p.Thr887Ala)	ADAMTSL4 (T887A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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