ClinVar for MedGen (Select 8016) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344766	NM_000216.4(ANOS1):c.1111G>A (p.Val371Ile)	ANOS1 (V371I)	Single nucleotide variant (missense variant)	ANOS1-related disorder +1 more	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 1344764	NM_021913.5(AXL):c.874del (p.His292fs)	AXL (H24fs +1 more)	Deletion (frameshift variant)	Amenorrhea	GUncertain significance
Select item 1344763	NM_005215.4(DCC):c.2647G>A (p.Val883Ile)	DCC (V883I)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344762	NM_005215.4(DCC):c.2455G>A (p.Asp819Asn)	DCC (D819N)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344761	NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser)	DMXL2 (T396S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344760	NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val)	DMXL2 (M483V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344759	NM_004795.4(KL):c.2534T>G (p.Val845Gly)	KL (V845G)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344758	NM_004795.4(KL):c.2251A>G (p.Arg751Gly)	KL (R751G)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GUncertain significance
Select item 1344756	NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys)	LOC100287944, POLR3B (R920C +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344755	NM_018117.12(WDR11):c.16G>A (p.Val6Met)	WDR11 (V6M)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344754	NM_178138.6(LHX3):c.934G>A (p.Gly312Ser)	LHX3 (G301S +2 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344753	NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln)	CHD7 (P1705Q)	Single nucleotide variant (missense variant +1 more)	Amenorrhea	GUncertain significance
Select item 1344751	NM_017780.4(CHD7):c.732C>G (p.Ser244Arg)	CHD7 (S244R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 1344750	NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu)	FGFR1 (G169E +5 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344749	NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg)	GNRH1 (I48R +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344748	NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro)	FEZF1 (Q398P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1344747	NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val)	SPRY4 (G69V +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344746	NM_001035235.4(SRA1):c.293_294del (p.Val98fs)	SRA1 (V98fs)	Microsatellite (frameshift variant +2 more)	Amenorrhea	GUncertain significance
Select item 1344745	NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg)	OTUD4 (P933R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344744	NM_001059.3(TACR3):c.743A>G (p.His248Arg)	TACR3 (H248R)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344743	NM_175737.4(KLB):c.2723G>T (p.Gly908Val)	KLB (G908V)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344742	NM_175737.4(KLB):c.505G>A (p.Ala169Thr)	KLB (A169T)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344741	NM_001126128.2(PROK2):c.181A>G (p.Met61Val)	PROK2 (M61V)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344740	NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His)	RAB3GAP1 (R947H +1 more)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1254737	NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter)	POLR3B (K663* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1184526	NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser)	PROKR2 (T340S)	Single nucleotide variant (missense variant)	Amenorrhea +1 more	GConflicting classifications of pathogenicity
Select item 893474	NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg)	PNPLA6 (G1254R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 785827	NM_021913.5(AXL):c.1549G>A (p.Gly517Ser)	AXL (G508S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 705733	NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr)	RAB3GAP2 (D1206Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 644003	NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)	SEMA3E (P111S +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 633661	NM_144773.4(PROKR2):c.332T>G (p.Met111Arg)	PROKR2 (M111R)	Single nucleotide variant (missense variant)	Amenorrhea +2 more	GConflicting classifications of pathogenicity
Select item 588393	NM_017780.4(CHD7):c.2182G>C (p.Asp728His)	CHD7 (D728H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 581160	NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)	CHD7 (R459C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 580491	NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu)	RAB3GAP2 (P527L)	Single nucleotide variant (missense variant)	Martsolf syndrome +5 more	GUncertain significance
Select item 529141	NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)	CHD7 (R1942W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523337	NM_000145.4(FSHR):c.2T>C (p.Met1Thr)	FSHR (M1T)	Single nucleotide variant (missense variant +1 more)	Amenorrhea	GPathogenic
Select item 523336	NM_000145.4(FSHR):c.153-11T>A	FSHR	Single nucleotide variant (intron variant)	Amenorrhea	GUncertain significance
Select item 516123	NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu)	ANOS1 (V587L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 463026	NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys)	RAB3GAP2 (R420C)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +2 more	GUncertain significance
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 267733	NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	HESX1 (V129I)	Single nucleotide variant (missense variant)	Septo-optic dysplasia sequence +2 more	GConflicting classifications of pathogenicity
Select item 224350	NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)	ANOS1 (H672R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 211978	NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)	RAB3GAP1 (R336C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 196432	NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	PROP1 (A142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 187790	NM_005215.4(DCC):c.1409G>A (p.Gly470Asp)	DCC (G470D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167717	NM_003106.4(SOX2):c.64G>A (p.Gly22Ser)	LOC108281177, SOX2 +1 more	Single nucleotide variant	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 158317	NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	CHD7 (M2527L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 68836	NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)	SEMA3A (N153S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 50874	NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)	SPRY4 (S241Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 16028	NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg)	GNRHR (S168R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3451	NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	PROKR2 (R85H)	Single nucleotide variant (missense variant)	PROKR2-related disorder +5 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 53