MACROD2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 149958	GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4	ESF1, LOC113939992 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3038275	NM_001351661.2(MACROD2):c.-6G>A	MACROD2	Single nucleotide variant (5 prime UTR variant)	MACROD2-related disorder	GBenign
Select item 2312899	NM_001351661.2(MACROD2):c.103A>T (p.Ile35Phe)	MACROD2 (I35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615633	NM_001351661.2(MACROD2):c.114C>A (p.Asn38Lys)	MACROD2 (N38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059666	NM_001351661.2(MACROD2):c.173C>T (p.Thr58Ile)	MACROD2 (T58I)	Single nucleotide variant (missense variant)	MACROD2-related disorder	GBenign
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 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 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 3279247	NM_198391.3(FLRT3):c.1814C>T (p.Ser605Leu)	FLRT3, MACROD2 (S605L)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 3279249	NM_198391.3(FLRT3):c.1705A>G (p.Arg569Gly)	FLRT3, MACROD2 (R569G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2464297	NM_198391.3(FLRT3):c.1604G>T (p.Gly535Val)	FLRT3, MACROD2 (G535V)	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 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 2507833	NM_198391.3(FLRT3):c.1396G>C (p.Val466Leu)	FLRT3, MACROD2 (V466L)	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 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 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 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 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 735414	NM_198391.3(FLRT3):c.1323T>C (p.Leu441=)	FLRT3, MACROD2	Single nucleotide variant (synonymous 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)	Hypogonadotropic hypogonadism 21 with or without anosmia +1 more	GBenign
Select item 1029224	NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser)	FLRT3, MACROD2 (T419S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 3279252	NM_198391.3(FLRT3):c.1216C>T (p.Pro406Ser)	FLRT3, MACROD2 (P406S)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 235238	NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr)	FLRT3, MACROD2 (A377T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2135252	NM_198391.3(FLRT3):c.1112C>T (p.Pro371Leu)	MACROD2, FLRT3 (P371L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 50865	NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg)	FLRT3, MACROD2 (K339R)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 21 with or without anosmia	GPathogenic
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 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 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 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 2066204	NM_198391.3(FLRT3):c.950G>A (p.Arg317His)	FLRT3, MACROD2 (R317H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 3279251	NM_198391.3(FLRT3):c.908G>A (p.Arg303His)	FLRT3, MACROD2 (R303H)	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 3279250	NM_198391.3(FLRT3):c.852T>A (p.Ser284Arg)	FLRT3, MACROD2 (S284R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3279248	NM_198391.3(FLRT3):c.812G>A (p.Arg271Lys)	FLRT3, MACROD2 (R271K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3358839	NM_198391.3(FLRT3):c.596C>G (p.Thr199Ser)	MACROD2, FLRT3 (T199S)	Single nucleotide variant (missense variant +1 more)	FLRT3-related disorder	GUncertain significance
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 2988548	NM_198391.3(FLRT3):c.526A>T (p.Thr176Ser)	FLRT3, MACROD2 (T176S)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 2652208	NM_198391.3(FLRT3):c.363T>C (p.Tyr121=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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
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 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 2098753	NM_198391.3(FLRT3):c.189C>A (p.Leu63=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2309464	NM_198391.3(FLRT3):c.14C>T (p.Ala5Val)	FLRT3, MACROD2 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57330	GRCh38/hg38 20p12.1(chr20:14453727-14818511)x1	LOC132090561, MACROD2 +1 more	Copy number loss	See cases	GBenign
Select item 545229	NC_000020.11:g.(?_14490624)_(14573076_?)del	LOC132090561, MACROD2 +1 more	Deletion	Autism	GLikely pathogenic
Select item 2282237	NM_001351661.2(MACROD2):c.296G>A (p.Gly99Glu)	MACROD2 (G99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152859	GRCh38/hg38 20p12.1(chr20:14586509-14818511)x1	MACROD2, MACROD2-IT1	Copy number loss	See cases	GUncertain significance
Select item 148057	GRCh38/hg38 20p12.1(chr20:14586509-14719453)x1	MACROD2, MACROD2-IT1	Copy number loss	See cases	GUncertain significance
Select item 545230	NC_000020.11:g.(?_14631584)_(14707775_?)del	MACROD2	Deletion	Schizophrenia	GLikely pathogenic
Select item 155252	GRCh38/hg38 20p12.1(chr20:14648477-14796293)x1	MACROD2	Copy number loss	See cases	GLikely benign
Select item 149213	GRCh38/hg38 20p12.1(chr20:14648477-14857630)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148688	GRCh38/hg38 20p12.1(chr20:14648477-14947981)x1	LOC130065435, LOC130065436 +3 more	Copy number loss	See cases	GUncertain significance
Select item 146539	GRCh38/hg38 20p12.1(chr20:14648477-14818511)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 545231	NC_000020.11:g.(?_14656734)_(14876708_?)del	LOC130065435, LOC130065436 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153726	GRCh38/hg38 20p12.1(chr20:14667575-15243121)x1	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GUncertain significance
Select item 155392	GRCh38/hg38 20p12.1(chr20:14680197-14714358)x1	MACROD2	Copy number loss	See cases	GUncertain significance
Select item 2341394	NM_001351661.2(MACROD2):c.358C>G (p.Leu120Val)	MACROD2 (L120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316248	NM_001351661.2(MACROD2):c.405C>A (p.Asp135Glu)	MACROD2 (D135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499637	GRCh38/hg38 20p12.1(chr20:14696399-15275484)	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GBenign
Select item 152495	GRCh38/hg38 20p12.1(chr20:14719394-14857571)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	See cases	GBenign

<< First< Prev

Page of 2