ClinVar for Gene (Select 221472) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +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	HCG26, HCG27 +2581 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

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Links from Gene

Items: 65