ClinVar for Gene (Select 221472) - ClinVar

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

Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278587	NM_173558.4(FGD2):c.1218G>T (p.Met406Ile)	FGD2 (M406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278586	NM_173558.4(FGD2):c.895G>A (p.Asp299Asn)	FGD2 (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278585	NM_173558.4(FGD2):c.512G>A (p.Arg171Gln)	FGD2 (R171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278584	NM_173558.4(FGD2):c.224C>G (p.Ser75Cys)	FGD2 (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278583	NM_173558.4(FGD2):c.1711C>T (p.Arg571Trp)	FGD2 (R571W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278582	NM_173558.4(FGD2):c.1963G>A (p.Asp655Asn)	FGD2 (D655N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278581	NM_173558.4(FGD2):c.1444C>T (p.Arg482Trp)	FGD2 (R482W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094614	NM_173558.4(FGD2):c.965G>A (p.Arg322His)	FGD2 (R322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094612	NM_173558.4(FGD2):c.782A>G (p.Gln261Arg)	FGD2 (Q261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094611	NM_173558.4(FGD2):c.446T>C (p.Val149Ala)	FGD2 (V149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094610	NM_173558.4(FGD2):c.439G>A (p.Val147Ile)	FGD2 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094609	NM_173558.4(FGD2):c.318C>G (p.Ile106Met)	FGD2 (I106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094608	NM_173558.4(FGD2):c.222C>A (p.Asn74Lys)	FGD2 (N74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094607	NM_173558.4(FGD2):c.1735G>C (p.Val579Leu)	FGD2 (V579L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094606	NM_173558.4(FGD2):c.1723C>T (p.Leu575Phe)	FGD2 (L575F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094605	NM_173558.4(FGD2):c.1654C>A (p.Gln552Lys)	FGD2 (Q552K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094603	NM_173558.4(FGD2):c.1523G>A (p.Arg508Gln)	FGD2, LOC126859665 (R508Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094602	NM_173558.4(FGD2):c.1424C>T (p.Thr475Met)	FGD2 (T475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2656522	NM_173558.4(FGD2):c.933C>T (p.Asp311=)	FGD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617917	NM_173558.4(FGD2):c.1610G>A (p.Gly537Glu)	FGD2 (G537E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605674	NM_173558.4(FGD2):c.645C>A (p.Asp215Glu)	FGD2 (D215E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558361	NM_173558.4(FGD2):c.415A>G (p.Ser139Gly)	FGD2 (S139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547544	NM_173558.4(FGD2):c.108C>G (p.Asp36Glu)	FGD2 (D36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540961	NM_173558.4(FGD2):c.1870G>A (p.Glu624Lys)	FGD2 (E624K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530031	NM_173558.4(FGD2):c.1565T>C (p.Leu522Pro)	FGD2, LOC126859665 (L522P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518007	NM_173558.4(FGD2):c.244A>G (p.Ser82Gly)	FGD2 (S82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516175	NM_173558.4(FGD2):c.994C>T (p.Arg332Cys)	FGD2 (R332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470186	NM_173558.4(FGD2):c.1795G>C (p.Val599Leu)	FGD2 (V599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461618	NM_173558.4(FGD2):c.358C>T (p.Arg120Cys)	FGD2 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460007	NM_173558.4(FGD2):c.312G>T (p.Lys104Asn)	FGD2 (K104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455595	NM_173558.4(FGD2):c.808C>A (p.Gln270Lys)	FGD2 (Q270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411926	NM_173558.4(FGD2):c.514C>T (p.Arg172Cys)	FGD2 (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399875	NM_173558.4(FGD2):c.1520A>G (p.Asn507Ser)	FGD2, LOC126859665 (N507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399429	NM_173558.4(FGD2):c.1823G>A (p.Arg608Gln)	FGD2 (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394163	NM_173558.4(FGD2):c.1622C>T (p.Thr541Met)	FGD2 (T541M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389157	NM_173558.4(FGD2):c.1912C>T (p.Arg638Trp)	FGD2 (R638W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387880	NM_173558.4(FGD2):c.1254C>A (p.Asp418Glu)	FGD2 (D418E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386646	NM_173558.4(FGD2):c.1351C>T (p.Arg451Trp)	FGD2 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378146	NM_173558.4(FGD2):c.296C>T (p.Thr99Met)	FGD2 (T99M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367631	NM_173558.4(FGD2):c.1733A>T (p.Tyr578Phe)	FGD2 (Y578F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356738	NM_173558.4(FGD2):c.1028T>C (p.Leu343Ser)	FGD2 (L343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339884	NM_173558.4(FGD2):c.407C>T (p.Ala136Val)	FGD2 (A136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325635	NM_173558.4(FGD2):c.523G>A (p.Asp175Asn)	FGD2 (D175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323813	NM_173558.4(FGD2):c.1851G>T (p.Gln617His)	FGD2 (Q617H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316521	NM_173558.4(FGD2):c.1846G>T (p.Gly616Cys)	FGD2 (G616C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310924	NM_173558.4(FGD2):c.1210G>A (p.Glu404Lys)	FGD2 (E404K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308429	NM_173558.4(FGD2):c.931G>A (p.Asp311Asn)	FGD2 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236937	NM_173558.4(FGD2):c.1916C>T (p.Ala639Val)	FGD2 (A639V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227678	NM_173558.4(FGD2):c.1114G>A (p.Gly372Arg)	FGD2 (G372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220973	NM_173558.4(FGD2):c.345G>T (p.Gln115His)	FGD2 (Q115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215790	NM_173558.4(FGD2):c.934G>A (p.Asp312Asn)	FGD2 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215120	NM_173558.4(FGD2):c.1413C>G (p.Phe471Leu)	FGD2 (F471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212175	NM_173558.4(FGD2):c.119G>T (p.Arg40Leu)	FGD2 (R40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 785170	NM_173558.4(FGD2):c.113A>G (p.His38Arg)	FGD2 (H38R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783459	NM_173558.4(FGD2):c.1590G>A (p.Arg530=)	FGD2, LOC126859665	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781868	NM_173558.4(FGD2):c.699G>A (p.Ser233=)	FGD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780619	NM_173558.4(FGD2):c.108C>A (p.Asp36Glu)	FGD2 (D36E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776126	NM_173558.4(FGD2):c.642C>T (p.Thr214=)	FGD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769681	NM_173558.4(FGD2):c.1506C>T (p.Asp502=)	FGD2, LOC126859665	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769680	NM_173558.4(FGD2):c.1341G>C (p.Glu447Asp)	FGD2 (E447D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768085	NM_173558.4(FGD2):c.181G>A (p.Val61Met)	FGD2 (V61M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 760822	NM_173558.4(FGD2):c.1030-6C>T	FGD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687456	GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	C6orf89, CPNE5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 161831	NM_173558.4(FGD2):c.882+3A>C	FGD2	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 155452	GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	C6orf89, CPNE5 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150550	GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	C6orf89, FGD2 +14 more	Copy number gain	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 72