ClinVar for Gene (Select 23769) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279242	NM_013280.5(FLRT1):c.1087G>T (p.Val363Phe)	FLRT1, MACROD1 (V335F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279241	NM_013280.5(FLRT1):c.1823A>G (p.Asp608Gly)	FLRT1, MACROD1 (D608G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279240	NM_013280.5(FLRT1):c.1646C>G (p.Ala549Gly)	FLRT1, MACROD1 (A521G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279239	NM_013280.5(FLRT1):c.1877C>G (p.Pro626Arg)	FLRT1, MACROD1 (P598R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279238	NM_013280.5(FLRT1):c.943G>A (p.Asp315Asn)	FLRT1, MACROD1 (D315N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3095698	NM_013280.5(FLRT1):c.934G>A (p.Gly312Ser)	FLRT1, MACROD1 (G284S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095697	NM_013280.5(FLRT1):c.380G>A (p.Arg127His)	FLRT1, MACROD1 (R127H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095696	NM_013280.5(FLRT1):c.1877C>T (p.Pro626Leu)	FLRT1, MACROD1 (P626L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095695	NM_013280.5(FLRT1):c.1756C>T (p.Arg586Trp)	FLRT1, MACROD1 (R558W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095694	NM_013280.5(FLRT1):c.155C>G (p.Thr52Ser)	FLRT1, MACROD1 (T24S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095693	NM_013280.5(FLRT1):c.1439T>C (p.Ile480Thr)	FLRT1, MACROD1 (I480T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095692	NM_013280.5(FLRT1):c.1354C>T (p.Arg452Cys)	FLRT1, MACROD1 (R424C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095691	NM_013280.5(FLRT1):c.1286C>T (p.Pro429Leu)	FLRT1, MACROD1 (P401L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095690	NM_013280.5(FLRT1):c.1267G>A (p.Asp423Asn)	FLRT1, MACROD1 (D395N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095689	NM_013280.5(FLRT1):c.114C>G (p.Cys38Trp)	FLRT1, MACROD1 (C10W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095688	NM_013280.5(FLRT1):c.1142C>T (p.Thr381Met)	FLRT1, MACROD1 (T381M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095687	NM_013280.5(FLRT1):c.1142C>G (p.Thr381Arg)	FLRT1, MACROD1 (T353R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095686	NM_013280.5(FLRT1):c.1045G>A (p.Val349Met)	FLRT1, MACROD1 (V321M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095685	NM_013280.5(FLRT1):c.1040C>T (p.Ala347Val)	FLRT1, MACROD1 (A347V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095684	NM_013280.5(FLRT1):c.1021G>C (p.Asp341His)	FLRT1, MACROD1 (D341H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3056264	NM_013280.5(FLRT1):c.933C>T (p.Arg311=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	FLRT1-related disorder	GLikely benign
Select item 3047412	NM_013280.5(FLRT1):c.951G>A (p.Leu317=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	FLRT1-related disorder	GLikely benign
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641907	NM_013280.5(FLRT1):c.1029G>A (p.Val343=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634534	NM_013280.5(FLRT1):c.1394G>A (p.Arg465Gln)	FLRT1, MACROD1 (R437Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2609285	NM_013280.5(FLRT1):c.1027G>C (p.Val343Leu)	FLRT1, MACROD1 (V343L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595718	NM_013280.5(FLRT1):c.1340C>T (p.Thr447Met)	FLRT1, MACROD1 (T419M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592906	NM_013280.5(FLRT1):c.1705G>A (p.Val569Ile)	FLRT1, MACROD1 (V541I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589632	NM_013280.5(FLRT1):c.1882C>T (p.Arg628Cys)	FLRT1, MACROD1 (R600C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588206	NM_013280.5(FLRT1):c.1211C>T (p.Thr404Met)	FLRT1, MACROD1 (T376M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557624	NM_013280.5(FLRT1):c.1288A>G (p.Met430Val)	FLRT1, MACROD1 (M430V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491115	NM_013280.5(FLRT1):c.32C>A (p.Thr11Asn)	FLRT1, MACROD1 (T11N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2401831	NM_013280.5(FLRT1):c.1672G>A (p.Gly558Ser)	FLRT1, MACROD1 (G558S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397586	NM_013280.5(FLRT1):c.187G>A (p.Gly63Ser)	FLRT1, MACROD1 (G63S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389867	NM_013280.5(FLRT1):c.1168G>A (p.Ala390Thr)	FLRT1, MACROD1 (A390T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326771	NM_013280.5(FLRT1):c.542T>G (p.Leu181Arg)	FLRT1, MACROD1 (L181R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324778	NM_013280.5(FLRT1):c.1360A>C (p.Thr454Pro)	FLRT1, MACROD1 (T454P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312285	NM_013280.5(FLRT1):c.1811G>A (p.Gly604Glu)	FLRT1, MACROD1 (G604E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292649	NM_013280.5(FLRT1):c.1119C>A (p.Ser373Arg)	FLRT1, MACROD1 (S373R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291761	NM_013280.5(FLRT1):c.676C>T (p.Arg226Cys)	FLRT1, MACROD1 (R226C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262614	NM_013280.5(FLRT1):c.1295C>T (p.Thr432Met)	FLRT1, MACROD1 (T432M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256786	NM_013280.5(FLRT1):c.1737G>C (p.Gln579His)	FLRT1, MACROD1 (Q579H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252111	NM_013280.5(FLRT1):c.1796A>G (p.Asp599Gly)	FLRT1, MACROD1 (D599G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248361	NM_013280.5(FLRT1):c.1798T>A (p.Tyr600Asn)	FLRT1, MACROD1 (Y600N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229577	NM_013280.5(FLRT1):c.1846G>A (p.Gly616Ser)	FLRT1, MACROD1 (G616S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226068	NM_013280.5(FLRT1):c.514G>A (p.Ala172Thr)	FLRT1, MACROD1 (A172T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1651466	NM_013280.5(FLRT1):c.1389T>C (p.Ser463=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1635114	NM_013280.5(FLRT1):c.825C>T (p.Leu275=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1616138	NM_013280.5(FLRT1):c.123C>T (p.Leu41=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1563980	NM_013280.5(FLRT1):c.186C>T (p.Asn62=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1446859	NM_013280.5(FLRT1):c.866C>T (p.Thr289Met)	FLRT1, MACROD1 (T289M +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1417202	NM_013280.5(FLRT1):c.1158C>T (p.Gly386=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1402858	NM_013280.5(FLRT1):c.290G>C (p.Gly97Ala)	FLRT1, MACROD1 (G97A +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1374536	NM_013280.5(FLRT1):c.1733A>G (p.His578Arg)	FLRT1, MACROD1 (H578R +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1348453	NM_013280.5(FLRT1):c.1042G>A (p.Ala348Thr)	FLRT1, MACROD1 (A348T +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1170621	NM_013280.5(FLRT1):c.1878G>A (p.Pro626=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1170348	NM_013280.5(FLRT1):c.1548C>T (p.Tyr516=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1169624	NM_013280.5(FLRT1):c.1170G>T (p.Ala390=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 1167057	NM_013280.5(FLRT1):c.1965C>T (p.Tyr655=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GBenign
Select item 1167056	NM_013280.5(FLRT1):c.1566C>T (p.Pro522=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GBenign
Select item 1167055	NM_013280.5(FLRT1):c.288C>T (p.Ala96=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GBenign
Select item 1166778	NM_013280.5(FLRT1):c.1893A>G (p.Glu631=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GBenign
Select item 1166605	NM_013280.5(FLRT1):c.57G>A (p.Thr19=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +2 more)	Peripheral neuropathy	GBenign
Select item 1165249	NM_013280.5(FLRT1):c.735C>T (p.Ser245=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GBenign
Select item 1165132	NM_013280.5(FLRT1):c.714C>T (p.Arg238=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1165131	NM_013280.5(FLRT1):c.246T>C (p.Asp82=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1156519	NM_013280.5(FLRT1):c.1719C>T (p.Ile573=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1153896	NM_013280.5(FLRT1):c.1919C>A (p.Pro640His)	FLRT1, MACROD1 (P640H +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1152880	NM_013280.5(FLRT1):c.1482G>C (p.Leu494=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1151623	NM_013280.5(FLRT1):c.495C>T (p.Thr165=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1150098	NM_013280.5(FLRT1):c.996T>C (p.Cys332=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1147569	NM_013280.5(FLRT1):c.1428C>T (p.Ala476=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1147502	NM_013280.5(FLRT1):c.1287C>T (p.Pro429=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1137368	NM_013280.5(FLRT1):c.1443G>A (p.Thr481=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1136645	NM_013280.5(FLRT1):c.1629G>A (p.Gln543=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1135668	NM_013280.5(FLRT1):c.1926C>T (p.Asn642=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1131761	NM_013280.5(FLRT1):c.762G>A (p.Ser254=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1128795	NM_013280.5(FLRT1):c.285C>T (p.Asn95=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1127499	NM_013280.5(FLRT1):c.342C>T (p.Tyr114=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1126543	NM_013280.5(FLRT1):c.1326C>T (p.His442=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1119373	NM_013280.5(FLRT1):c.94C>A (p.Arg32=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1115139	NM_013280.5(FLRT1):c.585G>C (p.Gly195=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1114417	NM_013280.5(FLRT1):c.2001C>T (p.Pro667=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1112150	NM_013280.5(FLRT1):c.1799A>G (p.Tyr600Cys)	FLRT1, MACROD1 (Y600C +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1110522	NM_013280.5(FLRT1):c.1362G>A (p.Thr454=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1109864	NM_013280.5(FLRT1):c.723C>T (p.Asp241=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1107240	NM_013280.5(FLRT1):c.228C>T (p.Pro76=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1105924	NM_013280.5(FLRT1):c.945C>T (p.Asp315=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy +1 more	GLikely benign
Select item 1101046	NM_013280.5(FLRT1):c.699G>A (p.Leu233=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1095307	NM_013280.5(FLRT1):c.1155C>T (p.Gly385=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1092352	NM_013280.5(FLRT1):c.180C>T (p.Cys60=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1086391	NM_013280.5(FLRT1):c.777G>A (p.Ser259=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1085735	NM_013280.5(FLRT1):c.1122G>C (p.Glu374Asp)	FLRT1, MACROD1 (E374D +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1061128	NM_013280.5(FLRT1):c.1277T>C (p.Ile426Thr)	FLRT1, MACROD1 (I426T +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GUncertain significance

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