Related gene-specific medical variations for Gene (Select 140733) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121927	NM_001351661.2(MACROD2):c.865G>A (p.Gly289Ser)	LOC613266, MACROD2 (G54S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095710	NM_198391.3(FLRT3):c.80T>C (p.Met27Thr)	FLRT3, MACROD2 (M27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095709	NM_198391.3(FLRT3):c.218C>A (p.Ala73Asp)	FLRT3, MACROD2 (A73D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095708	NM_198391.3(FLRT3):c.1906T>C (p.Tyr636His)	FLRT3, MACROD2 (Y636H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095707	NM_198391.3(FLRT3):c.1865T>C (p.Leu622Pro)	FLRT3, MACROD2 (L622P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095706	NM_198391.3(FLRT3):c.1339C>G (p.Pro447Ala)	FLRT3, MACROD2 (P447A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057099	NM_001351661.2(MACROD2):c.940G>A (p.Gly314Ser)	LOC613266, MACROD2 (G314S +1 more)	Single nucleotide variant (missense variant)	MACROD2-related disorder	GBenign
Select item 3031882	NM_198391.3(FLRT3):c.1327C>T (p.Leu443=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	FLRT3-related disorder	GLikely benign
Select item 3025980	NM_198391.3(FLRT3):c.992G>A (p.Gly331Glu)	FLRT3, MACROD2 (G331E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3019936	NM_198391.3(FLRT3):c.414C>T (p.Asn138=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988548	NM_198391.3(FLRT3):c.526A>T (p.Thr176Ser)	MACROD2, FLRT3 (T176S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2976939	NM_198391.3(FLRT3):c.1018G>T (p.Val340Phe)	FLRT3, MACROD2 (V340F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958832	NM_198391.3(FLRT3):c.1907A>G (p.Tyr636Cys)	FLRT3, MACROD2 (Y636C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716845	NM_198391.3(FLRT3):c.943T>A (p.Trp315Arg)	FLRT3, MACROD2 (W315R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689387	NM_001351661.2(MACROD2):c.1345T>A (p.Ter449Arg)	MACROD2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2652208	NM_198391.3(FLRT3):c.363T>C (p.Tyr121=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2637475	NM_198391.3(FLRT3):c.741A>T (p.Thr247=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2611078	NM_198391.3(FLRT3):c.299C>T (p.Thr100Ile)	FLRT3, MACROD2 (T100I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597729	NM_198391.3(FLRT3):c.73T>C (p.Ser25Pro)	FLRT3, MACROD2 (S25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549592	NM_198391.3(FLRT3):c.487C>T (p.Arg163Cys)	FLRT3, MACROD2 (R163C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548607	NM_198391.3(FLRT3):c.1510C>T (p.Leu504Phe)	FLRT3, MACROD2 (L504F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507833	NM_198391.3(FLRT3):c.1396G>C (p.Val466Leu)	FLRT3, MACROD2 (V466L)	Single nucleotide variant (missense variant +1 more)	FLRT3-related disorder +1 more	GUncertain significance
Select item 2494268	NM_001351661.2(MACROD2):c.835G>T (p.Ala279Ser)	LOC613266, MACROD2 (A279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464297	NM_198391.3(FLRT3):c.1604G>T (p.Gly535Val)	MACROD2, FLRT3 (G535V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441519	NM_198391.3(FLRT3):c.1727C>T (p.Ala576Val)	FLRT3, MACROD2 (A576V)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia	GUncertain significance
Select item 2328020	NM_198391.3(FLRT3):c.1792C>T (p.Pro598Ser)	FLRT3, MACROD2 (P598S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309464	NM_198391.3(FLRT3):c.14C>T (p.Ala5Val)	MACROD2, FLRT3 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299021	NM_198391.3(FLRT3):c.977A>G (p.Lys326Arg)	FLRT3, MACROD2 (K326R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284744	NM_198391.3(FLRT3):c.985G>A (p.Val329Met)	FLRT3, MACROD2 (V329M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264561	NM_001351661.2(MACROD2):c.850A>G (p.Thr284Ala)	LOC613266, MACROD2 (T49A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259522	NM_198391.3(FLRT3):c.1445T>A (p.Met482Lys)	FLRT3, MACROD2 (M482K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243646	NM_198391.3(FLRT3):c.907C>T (p.Arg303Cys)	FLRT3, MACROD2 (R303C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2136720	NM_198391.3(FLRT3):c.1382G>A (p.Arg461His)	FLRT3, MACROD2 (R461H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135568	NM_198391.3(FLRT3):c.447A>G (p.Ala149=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135252	NM_198391.3(FLRT3):c.1112C>T (p.Pro371Leu)	FLRT3, MACROD2 (P371L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2098753	NM_198391.3(FLRT3):c.189C>A (p.Leu63=)	FLRT3, MACROD2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2066204	NM_198391.3(FLRT3):c.950G>A (p.Arg317His)	FLRT3, MACROD2 (R317H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1710063	NM_198391.3(FLRT3):c.999G>A (p.Met333Ile)	FLRT3, MACROD2 (M333I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia	GUncertain significance
Select item 1678235	NM_198391.3(FLRT3):c.1354A>G (p.Ile452Val)	FLRT3, MACROD2 (I452V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446391	NM_198391.3(FLRT3):c.700C>T (p.Arg234Trp)	FLRT3, MACROD2 (R234W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365462	NM_198391.3(FLRT3):c.821A>G (p.Tyr274Cys)	FLRT3, MACROD2 (Y274C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1363688	NM_198391.3(FLRT3):c.452G>A (p.Arg151Gln)	FLRT3, MACROD2 (R151Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344765	NM_198391.3(FLRT3):c.1202A>T (p.Gln401Leu)	FLRT3, MACROD2 (Q401L)	Single nucleotide variant (missense variant +1 more)	Amenorrhea	GUncertain significance
Select item 1317710	NM_198391.3(FLRT3):c.1134A>C (p.Gln378His)	FLRT3, MACROD2 (Q378H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1288590	NM_198391.3(FLRT3):c.1200C>A (p.His400Gln)	FLRT3, MACROD2 (H400Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1259515	NM_198391.3(FLRT3):c.1380A>C (p.Glu460Asp)	FLRT3, MACROD2 (E460D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1226971	NM_198391.3(FLRT3):c.1257C>T (p.Thr419=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1199404	NM_198391.3(FLRT3):c.182C>G (p.Thr61Arg)	FLRT3, MACROD2 (T61R)	Single nucleotide variant (missense variant +1 more)	Disorder of sexual differentiation	GUncertain significance
Select item 1029224	NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser)	FLRT3, MACROD2 (T419S)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia +1 more	GUncertain significance
Select item 979563	GRCh37/hg19 20p12.1(chr20:14455496-14556385)x1	MACROD2	Copy number loss	not provided	GLikely benign
Select item 932377	NM_198391.3(FLRT3):c.1829T>C (p.Val610Ala)	FLRT3, MACROD2 (V610A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 795201	NM_198391.3(FLRT3):c.90C>A (p.Ser30=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789542	NM_198391.3(FLRT3):c.831T>C (p.Asp277=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 788687	NM_198391.3(FLRT3):c.948A>T (p.Val316=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 786364	NM_198391.3(FLRT3):c.1104T>C (p.Thr368=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770298	NM_198391.3(FLRT3):c.765A>G (p.Gln255=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 764545	NM_198391.3(FLRT3):c.936G>A (p.Lys312=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751473	NM_198391.3(FLRT3):c.591T>G (p.Gly197=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 747121	NM_198391.3(FLRT3):c.738C>A (p.Gly246=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735414	NM_198391.3(FLRT3):c.1323T>C (p.Leu441=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734279	NM_001351661.2(MACROD2):c.783C>T (p.Asn261=)	LOC613266, MACROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624487	GRCh37/hg19 20p12.1(chr20:14721866-14849560)x1	MACROD2	Copy number loss	not provided	GLikely benign
Select item 623443	NM_198391.3(FLRT3):c.1642G>C (p.Val548Leu)	FLRT3, MACROD2 (V548L)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 564636	GRCh37/hg19 20p12.1(chr20:14797571-15693944)x1	MACROD2	Copy number loss	not provided	GLikely benign
Select item 564610	GRCh37/hg19 20p12.1(chr20:13984101-14057421)x1	MACROD2	Copy number loss	not provided	GLikely benign
Select item 545232	NC_000020.11:g.(?_15307783)_(15453889_?)del	MACROD2	Deletion	Autism	GLikely pathogenic
Select item 545230	NC_000020.11:g.(?_14631584)_(14707775_?)del	MACROD2	Deletion	Schizophrenia	GLikely pathogenic
Select item 442935	GRCh37/hg19 20p12.1(chr20:14639149-15052514)x1	MACROD2	Copy number loss	See cases	GLikely benign
Select item 442672	GRCh37/hg19 20p12.1(chr20:15415258-15540324)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 441677	GRCh37/hg19 20p12.1(chr20:14541105-14887230)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 395712	GRCh37/hg19 20p12.1(chr20:14700040-14838217)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 395669	GRCh37/hg19 20p12.1(chr20:14427197-14453156)x1	MACROD2	Copy number loss	See cases	GLikely benign
Select item 395333	GRCh37/hg19 20p12.1(chr20:14700040-14910957)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 394995	GRCh37/hg19 20p12.1(chr20:14756520-15199338)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 394486	GRCh37/hg19 20p12.1(chr20:15041479-15154704)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 394176	GRCh37/hg19 20p12.1(chr20:14700040-14884729)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 394045	GRCh37/hg19 20p12.1(chr20:14991493-15154704)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 393955	GRCh37/hg19 20p12.1(chr20:14756520-14910957)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 393741	GRCh37/hg19 20p12.1(chr20:14756520-14817895)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 236363	Single allele	MACROD2	Deletion	Autism spectrum disorder	GUncertain significance
Select item 236362	Single allele	MACROD2	Deletion	Autism spectrum disorder	GUncertain significance
Select item 235238	NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr)	MACROD2, FLRT3 (A377T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 226270	GRCh37/hg19 20p12.1(chr20:15062923-15103156)	MACROD2	Copy number loss	Abnormal esophagus morphology	GBenign
Select item 218829	NM_001351661.2(MACROD2):c.805G>A (p.Val269Met)	LOC613266, MACROD2 (V269M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 155392	GRCh38/hg38 20p12.1(chr20:14680197-14714358)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 155252	GRCh38/hg38 20p12.1(chr20:14648477-14796293)x1	MACROD2	Copy number loss	See cases	GLikely benign
Select item 151391	GRCh38/hg38 20p12.1(chr20:14775747-14818452)x1	MACROD2	Copy number loss	See cases	GBenign
Select item 146539	GRCh38/hg38 20p12.1(chr20:14648477-14818511)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 50865	NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg)	MACROD2, FLRT3 (K339R)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia	GPathogenic
Select item 50864	NM_198391.3(FLRT3):c.205C>A (p.Gln69Lys)	FLRT3, MACROD2 (Q69K)	Single nucleotide variant (missense variant +1 more)	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO	Grisk factor
Select item 50863	NM_198391.3(FLRT3):c.431G>T (p.Ser144Ile)	FLRT3, MACROD2 (S144I)	Single nucleotide variant (missense variant +1 more)	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO	Grisk factor
Select item 50862	NM_198391.3(FLRT3):c.290A>G (p.Glu97Gly)	FLRT3, MACROD2 (E97G)	Single nucleotide variant (missense variant +1 more)	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO	Grisk factor

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Items: 92