Related gene-specific medical variations for Gene (Select 23767) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031882	NM_198391.3(FLRT3):c.1327C>T (p.Leu443=)	FLRT3, MACROD2	Single nucleotide variant (synonymous variant +1 more)	FLRT3-related condition	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 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 (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597729	NM_198391.3(FLRT3):c.73T>C (p.Ser25Pro)	FLRT3, MACROD2 (S25P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549592	NM_198391.3(FLRT3):c.487C>T (p.Arg163Cys)	FLRT3, MACROD2 (R163C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548607	NM_198391.3(FLRT3):c.1510C>T (p.Leu504Phe)	FLRT3, MACROD2 (L504F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 condition +1 more	GUncertain significance
Select item 2464297	NM_198391.3(FLRT3):c.1604G>T (p.Gly535Val)	FLRT3, MACROD2 (G535V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	MACROD2, FLRT3 (P598S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309464	NM_198391.3(FLRT3):c.14C>T (p.Ala5Val)	FLRT3, MACROD2 (A5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299021	NM_198391.3(FLRT3):c.977A>G (p.Lys326Arg)	FLRT3, MACROD2 (K326R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284744	NM_198391.3(FLRT3):c.985G>A (p.Val329Met)	FLRT3, MACROD2 (V329M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259522	NM_198391.3(FLRT3):c.1445T>A (p.Met482Lys)	FLRT3, MACROD2 (M482K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243646	NM_198391.3(FLRT3):c.907C>T (p.Arg303Cys)	MACROD2, FLRT3 (R303C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	FLRT3-related condition +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 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 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 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 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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Links from Gene

Items: 55