ClinVar for MedGen (Select 61234) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066328	NM_004463.3(FGD1):c.2318A>G (p.Tyr773Cys)	FGD1 (Y773C)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 3066275	NM_004463.3(FGD1):c.2268C>A (p.Cys756Ter)	FGD1 (C756*)	Single nucleotide variant (nonsense)	Aarskog syndrome	GLikely pathogenic
Select item 2578544	NM_004463.3(FGD1):c.2501dup (p.Gly835fs)	FGD1, TSR2 (G835fs)	Duplication (frameshift variant +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 2578534	NM_004463.3(FGD1):c.1197C>A (p.Phe399Leu)	FGD1 (F399L)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 2578533	NM_004463.3(FGD1):c.2611A>G (p.Ile871Val)	FGD1, TSR2 (I871V)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2572580	NM_004463.3(FGD1):c.1409A>G (p.Tyr470Cys)	FGD1 (Y470C)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 2441811	NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)	FGD1 (G794R)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 2441411	NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)	FGD1, TSR2 (Y854C)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2441410	NM_004463.3(FGD1):c.2154G>A (p.Val718=)	FGD1	Single nucleotide variant (synonymous variant)	Aarskog syndrome	GUncertain significance
Select item 2441409	NM_004463.3(FGD1):c.1432G>A (p.Val478Met)	FGD1 (V478M)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2441408	NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly)	FGD1, TSR2 (R935G)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome	GUncertain significance
Select item 2441407	NM_004463.3(FGD1):c.486C>A (p.Pro162=)	FGD1	Single nucleotide variant (synonymous variant)	Aarskog syndrome	GUncertain significance
Select item 2441406	NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)	FGD1, TSR2 (R958Q)	Single nucleotide variant (missense variant +1 more)	Aarskog syndrome +1 more	GUncertain significance
Select item 2440247	NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs)	FGD1 (R656fs)	Deletion (frameshift variant)	Aarskog syndrome	GLikely pathogenic
Select item 1804109	NM_004463.3(FGD1):c.1500G>A (p.Lys500=)	FGD1	Single nucleotide variant (synonymous variant)	Aarskog syndrome	GUncertain significance
Select item 1709736	NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter)	FGD1, TSR2 (W838*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 1706643	NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys)	FGD1 (R449C)	Single nucleotide variant (missense variant)	Aarskog syndrome	GLikely benign
Select item 1705427	NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter)	FGD1, TSR2 (R886*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome	GLikely pathogenic
Select item 1699480	NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr)	FGD1 (C761Y)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 1679314	NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter)	FGD1 (E446*)	Single nucleotide variant (nonsense)	Aarskog syndrome	GLikely pathogenic
Select item 1308282	NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr)	FGD1, TSR2 (I871T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1065431	NM_004463.3(FGD1):c.492G>T (p.Lys164Asn)	FGD1 (K164N)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 1031428	NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala)	FGD1 (T673A)	Single nucleotide variant (missense variant)	Aarskog syndrome	GLikely pathogenic
Select item 982779	NM_004463.3(FGD1):c.545del (p.Pro182fs)	FGD1 (P182fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
Select item 981475	NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer)	FGD1	Deletion (nonsense)	Aarskog syndrome	GPathogenic
Select item 981474	NM_004463.3(FGD1):c.1422del (p.Phe474fs)	FGD1 (F474fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
Select item 931968	NM_004463.3(FGD1):c.1695+1G>A	FGD1	Single nucleotide variant (splice donor variant)	Aarskog syndrome	GPathogenic
Select item 931636	NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del)	FGD1 (E350del)	Microsatellite (inframe_deletion)	Aarskog syndrome	GUncertain significance
Select item 869445	NM_004463.3(FGD1):c.679del (p.Ser227fs)	FGD1 (S227fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
Select item 807731	NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser)	FGD1 (N604S)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GUncertain significance
Select item 804014	NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)	FGD1 (G129D)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 804013	NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)	FGD1 (Q146R)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 804012	NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)	FGD1 (W484*)	Single nucleotide variant (nonsense)	Aarskog syndrome	GPathogenic
Select item 804011	NM_004463.3(FGD1):c.1843-1G>A	FGD1	Single nucleotide variant (splice acceptor variant)	Aarskog syndrome	GPathogenic
Select item 694686	NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)	FGD1 (Y530*)	Single nucleotide variant (nonsense)	Aarskog syndrome	GPathogenic
Select item 694679	NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)	FGD1 (L382del)	Deletion (inframe_deletion)	Aarskog syndrome	GPathogenic
Select item 547979	NM_004463.3(FGD1):c.598C>T (p.Pro200Ser)	FGD1 (P200S)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 547370	NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)	FGD1, TSR2 (R910*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome +1 more	GPathogenic/Likely pathogenic
Select item 547369	NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg)	FGD1 (L669R)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 547368	NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser)	FGD1 (L578S)	Single nucleotide variant (missense variant)	Aarskog syndrome	GUncertain significance
Select item 547366	NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup)	FGD1	Duplication (inframe_insertion)	Aarskog syndrome	GUncertain significance
Select item 547365	NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)	FGD1 (P414L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 547364	NM_004463.3(FGD1):c.277dup (p.Tyr93fs)	FGD1 (Y93fs)	Duplication (frameshift variant)	Aarskog syndrome	GLikely pathogenic
Select item 521263	NM_004463.3(FGD1):c.1328G>A (p.Arg443His)	FGD1 (R443H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 488057	NM_004463.3(FGD1):c.892dup (p.Cys298fs)	FGD1 (C298fs)	Duplication (frameshift variant)	Aarskog syndrome	GLikely pathogenic
Select item 374329	NM_004463.3(FGD1):c.527del (p.Pro176fs)	FGD1 (P176fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 282352	NM_004463.3(FGD1):c.2314G>A (p.Val772Ile)	FGD1 (V772I)	Single nucleotide variant (missense variant)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 259404	NM_004463.3(FGD1):c.659+27T>C	FGD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 224655	NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)	FGD1, TSR2 (R921*)	Single nucleotide variant (nonsense +1 more)	Aarskog syndrome +1 more	GConflicting classifications of pathogenicity
Select item 196389	NM_004463.3(FGD1):c.527dup (p.Leu177fs)	FGD1 (L177fs)	Duplication (frameshift variant)	FGD1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 95092	NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)	FGD1 (R132Q)	Single nucleotide variant (missense variant)	FGD1-related condition +4 more	GBenign/Likely benign
Select item 95076	NM_004463.3(FGD1):c.*36C>T	TSR2, FGD1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 29974	NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)	FGD1 (R656*)	Single nucleotide variant (nonsense)	Aarskog syndrome	GPathogenic
Select item 10834	NM_004463.3(FGD1):c.1396A>G (p.Met466Val)	FGD1 (M466V)	Single nucleotide variant (missense variant)	Aarskog syndrome	GPathogenic
Select item 10833	NM_004463.3(FGD1):c.944dup (p.Ala316fs)	FGD1 (A316fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 10832	NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)	FGD1 (R443L)	Single nucleotide variant (missense variant)	Aarskog syndrome	GPathogenic
Select item 10831	NM_004463.3(FGD1):c.2192del (p.Lys731fs)	FGD1 (K731fs)	Deletion (frameshift variant)	Aarskog syndrome	GPathogenic
Select item 10830	NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)	FGD1 (R408Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10828	NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)	FGD1 (P312L)	Single nucleotide variant (missense variant)	FGD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 10827	NG_008054.1:g.(35701_?)_(?_50820)del	FGD1	Deletion	Aarskog syndrome	GPathogenic
Select item 10826	NM_004463.3(FGD1):c.1565G>A (p.Arg522His)	FGD1 (R522H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 10825	NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)	FGD1 (R610Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10824	NM_004463.3(FGD1):c.1392dup (p.Lys465fs)	FGD1 (K465fs)	Duplication (frameshift variant)	Aarskog syndrome	GPathogenic

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Items: 63