MACROD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2484661	NM_014067.4(MACROD1):c.967C>T (p.Pro323Ser)	MACROD1 (P323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641906	NM_014067.4(MACROD1):c.960C>T (p.His320=)	MACROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289197	NM_014067.4(MACROD1):c.956C>T (p.Pro319Leu)	MACROD1 (P319L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247118	NM_014067.4(MACROD1):c.931G>A (p.Glu311Lys)	MACROD1 (E311K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273291	NM_014067.4(MACROD1):c.907A>G (p.Ile303Val)	MACROD1 (I303V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409746	NM_014067.4(MACROD1):c.814T>G (p.Phe272Val)	MACROD1 (F272V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226002	NM_014067.4(MACROD1):c.788C>T (p.Ala263Val)	MACROD1 (A263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481708	NM_014067.4(MACROD1):c.778C>T (p.Arg260Cys)	MACROD1 (R260C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368711	NM_014067.4(MACROD1):c.734G>A (p.Ser245Asn)	MACROD1 (S245N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570211	NM_014067.4(MACROD1):c.673C>T (p.His225Tyr)	MACROD1 (H225Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491115	NM_013280.5(FLRT1):c.32C>A (p.Thr11Asn)	MACROD1, FLRT1 (T11N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782187	NM_013280.5(FLRT1):c.36C>T (p.Thr12=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 530938	NM_013280.5(FLRT1):c.38C>T (p.Thr13Met)	FLRT1, MACROD1 (T13M)	Single nucleotide variant (intron variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 461801	NM_013280.5(FLRT1):c.38C>G (p.Thr13Arg)	FLRT1, MACROD1 (T13R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 571356	NM_013280.5(FLRT1):c.64_84del (p.Val22_Thr28del)	FLRT1, MACROD1	Deletion (inframe_deletion +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1166605	NM_013280.5(FLRT1):c.57G>A (p.Thr19=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 530943	NM_013280.5(FLRT1):c.64G>A (p.Val22Ile)	FLRT1, MACROD1 (V22I)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +2 more	GConflicting classifications of pathogenicity
Select item 1055905	NM_013280.5(FLRT1):c.86T>A (p.Met29Lys)	FLRT1, MACROD1 (M29K)	Single nucleotide variant (intron variant +1 more)	Peripheral neuropathy	GUncertain significance
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 461792	NM_013280.5(FLRT1):c.108C>T (p.Phe36=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 704715	NM_013280.5(FLRT1):c.117C>T (p.Tyr39=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
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 1015495	NM_013280.5(FLRT1):c.176G>A (p.Arg59His)	FLRT1, MACROD1 (R59H)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 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 2397586	NM_013280.5(FLRT1):c.187G>A (p.Gly63Ser)	FLRT1, MACROD1 (G63S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 530933	NM_013280.5(FLRT1):c.211G>C (p.Gly71Arg)	FLRT1, MACROD1 (G71R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 530937	NM_013280.5(FLRT1):c.229G>A (p.Ala77Thr)	FLRT1, MACROD1 (A77T)	Single nucleotide variant (intron variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1165131	NM_013280.5(FLRT1):c.246T>C (p.Asp82=)	FLRT1, MACROD1	Single nucleotide variant (intron variant +1 more)	Peripheral neuropathy	GBenign
Select item 857225	NM_013280.5(FLRT1):c.251C>T (p.Thr84Ile)	FLRT1, MACROD1 (T84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1167055	NM_013280.5(FLRT1):c.288C>T (p.Ala96=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 1402858	NM_013280.5(FLRT1):c.290G>C (p.Gly97Ala)	FLRT1, MACROD1 (G97A)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 1002428	NM_013280.5(FLRT1):c.389G>A (p.Arg130Gln)	FLRT1, MACROD1 (R130Q)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 461802	NM_013280.5(FLRT1):c.407A>G (p.Asp136Gly)	FLRT1, MACROD1 (D136G)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GLikely benign
Select item 579757	NM_013280.5(FLRT1):c.437C>T (p.Ser146Leu)	FLRT1, MACROD1 (S146L)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 969374	NM_013280.5(FLRT1):c.443C>G (p.Ala148Gly)	FLRT1, MACROD1 (A148G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 948270	NM_013280.5(FLRT1):c.445C>T (p.Arg149Cys)	FLRT1, MACROD1 (R149C)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 461803	NM_013280.5(FLRT1):c.457C>T (p.Leu153=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 842634	NM_013280.5(FLRT1):c.471C>A (p.His157Gln)	FLRT1, MACROD1 (H157Q)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 951943	NM_013280.5(FLRT1):c.496G>A (p.Val166Ile)	FLRT1, MACROD1 (V166I)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 530942	NM_013280.5(FLRT1):c.513C>T (p.Asp171=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 2226068	NM_013280.5(FLRT1):c.514G>A (p.Ala172Thr)	FLRT1, MACROD1 (A172T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 530935	NM_013280.5(FLRT1):c.523G>A (p.Asp175Asn)	FLRT1, MACROD1 (D175N)	Single nucleotide variant (intron variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 2326771	NM_013280.5(FLRT1):c.542T>G (p.Leu181Arg)	FLRT1, MACROD1 (L181R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 957887	NM_013280.5(FLRT1):c.581C>T (p.Ser194Leu)	FLRT1, MACROD1 (S194L)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GUncertain significance
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 643512	NM_013280.5(FLRT1):c.667A>G (p.Ser223Gly)	FLRT1, MACROD1 (S223G)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 2291761	NM_013280.5(FLRT1):c.676C>T (p.Arg226Cys)	FLRT1, MACROD1 (R226C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1043451	NM_013280.5(FLRT1):c.677G>A (p.Arg226His)	MACROD1, FLRT1 (R226H)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 1165132	NM_013280.5(FLRT1):c.714C>T (p.Arg238=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 703913	NM_013280.5(FLRT1):c.720C>T (p.Ala240=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 577882	NM_013280.5(FLRT1):c.722A>T (p.Asp241Val)	FLRT1, MACROD1 (D241V)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 1165249	NM_013280.5(FLRT1):c.735C>T (p.Ser245=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 647420	NM_013280.5(FLRT1):c.736C>T (p.Arg246Cys)	FLRT1, MACROD1 (R246C)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 566239	NM_013280.5(FLRT1):c.776C>T (p.Ser259Leu)	FLRT1, MACROD1 (S259L)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 461804	NM_013280.5(FLRT1):c.783C>T (p.Ala261=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 703822	NM_013280.5(FLRT1):c.786G>A (p.Ala262=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	FLRT1-related condition +1 more	GBenign/Likely benign
Select item 461805	NM_013280.5(FLRT1):c.822G>A (p.Lys274=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
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 1446859	NM_013280.5(FLRT1):c.866C>T (p.Thr289Met)	FLRT1, MACROD1 (T289M)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 461806	NM_013280.5(FLRT1):c.870G>A (p.Leu290=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1008089	NM_013280.5(FLRT1):c.881G>T (p.Arg294Leu)	FLRT1, MACROD1 (R294L)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 530944	NM_013280.5(FLRT1):c.893G>A (p.Arg298Gln)	FLRT1, MACROD1 (R298Q)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GBenign
Select item 1025266	NM_013280.5(FLRT1):c.915C>A (p.Asn305Lys)	FLRT1, MACROD1 (N305K)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GUncertain significance
Select item 3056264	NM_013280.5(FLRT1):c.933C>T (p.Arg311=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	FLRT1-related condition	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	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 condition	GLikely benign
Select item 859555	NM_013280.5(FLRT1):c.977G>A (p.Arg326Lys)	FLRT1, MACROD1 (R326K)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
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 461791	NM_013280.5(FLRT1):c.1008C>T (p.Leu336=)	MACROD1, FLRT1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 2609285	NM_013280.5(FLRT1):c.1027G>C (p.Val343Leu)	FLRT1, MACROD1 (V343L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1348453	NM_013280.5(FLRT1):c.1042G>A (p.Ala348Thr)	FLRT1, MACROD1 (A348T)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 640772	NM_013280.5(FLRT1):c.1066A>C (p.Met356Leu)	FLRT1, MACROD1 (M356L)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 565723	NM_013280.5(FLRT1):c.1091G>A (p.Arg364Gln)	FLRT1, MACROD1 (R364Q)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 2292649	NM_013280.5(FLRT1):c.1119C>A (p.Ser373Arg)	FLRT1, MACROD1 (S373R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 530941	NM_013280.5(FLRT1):c.1120G>C (p.Glu374Gln)	FLRT1, MACROD1 (E374Q)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GUncertain significance
Select item 1085735	NM_013280.5(FLRT1):c.1122G>C (p.Glu374Asp)	FLRT1, MACROD1 (E374D)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	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 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 2389867	NM_013280.5(FLRT1):c.1168G>A (p.Ala390Thr)	MACROD1, FLRT1 (A390T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1169624	NM_013280.5(FLRT1):c.1170G>T (p.Ala390=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GBenign
Select item 461793	NM_013280.5(FLRT1):c.1184C>T (p.Thr395Met)	FLRT1, MACROD1 (T395M)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1054375	NM_013280.5(FLRT1):c.1202C>A (p.Ser401Tyr)	FLRT1, MACROD1 (S401Y)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	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)	Inborn genetic diseases	GUncertain significance
Select item 772484	NM_013280.5(FLRT1):c.1212G>A (p.Thr404=)	FLRT1, MACROD1	Single nucleotide variant (synonymous variant +1 more)	Peripheral neuropathy	GLikely benign
Select item 1009229	NM_013280.5(FLRT1):c.1229T>A (p.Phe410Tyr)	MACROD1, FLRT1 (F410Y)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 568577	NM_013280.5(FLRT1):c.1253G>A (p.Gly418Glu)	FLRT1, MACROD1 (G418E)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy	GUncertain significance
Select item 1061128	NM_013280.5(FLRT1):c.1277T>C (p.Ile426Thr)	FLRT1, MACROD1 (I426T)	Single nucleotide variant (missense variant +1 more)	Peripheral neuropathy +1 more	GUncertain significance
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 2557624	NM_013280.5(FLRT1):c.1288A>G (p.Met430Val)	FLRT1, MACROD1 (M430V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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