ClinVar for MedGen (Select 105327) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1252087	NM_001139456.2(SVOPL):c.663del (p.Phe221fs)	SVOPL (F130fs +2 more)	Deletion (frameshift variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252082	NM_001080451.2(SERPINA11):c.643+1G>A	SERPINA11	Single nucleotide variant (splice donor variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252079	NM_014502.5(PRPF19):c.794A>G (p.Lys265Arg)	PRPF19 (K265R)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252065	NM_001010985.3(MYBPHL):c.212T>G (p.Val71Gly)	MYBPHL (V71G)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252061	NM_014484.5(MOCS3):c.1027C>T (p.Arg343Ter)	MOCS3 (R343*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252051	NM_153209.4(KIF19):c.788G>A (p.Arg263His)	KIF19 (R263H)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GPathogenic
Select item 1252050	NM_153209.4(KIF19):c.1906T>G (p.Tyr636Asp)	KIF19 (Y636D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252032	NM_133450.4(ANKS3):c.352G>A (p.Ala118Thr)	ANKS3 (A118T)	Single nucleotide variant (5 prime UTR variant +3 more)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252029	NM_004111.6(FEN1):c.704G>A (p.Cys235Tyr)	FEN1 (C235Y)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252028	NM_031282.3(FCRL4):c.847+1G>A	FCRL4, LOC126805881	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1252020	NM_001099409.3(EHBP1L1):c.3333_3346delinsAGAGTCAGTAGCA (p.Arg1112fs)	EHBP1L1 (R1112fs +1 more)	Indel (frameshift variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1252019	NM_001099409.3(EHBP1L1):c.4004-1G>A	EHBP1L1	Single nucleotide variant (splice acceptor variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1251998	NM_015378.4(VPS13D):c.2020C>G (p.Arg674Gly)	VPS13D (R674G)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1065513	NM_001142864.4(PIEZO1):c.2610G>A (p.Met870Ile)	HSALR1, PIEZO1 (M870I)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 1065508	NM_014762.4(DHCR24):c.1204C>T (p.Gln402Ter)	DHCR24 (Q402*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GPathogenic
Select item 1065507	NM_014762.4(DHCR24):c.1218+1G>A	DHCR24	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065506	NM_005251.3(FOXC2):c.1027G>T (p.Glu343Ter)	FOXC2 (E343*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 1065498	NM_001372.4(DNAH9):c.2984del (p.Arg995fs)	DNAH9, LOC126862505 (R995fs)	Deletion (frameshift variant)	DNAH9-related condition +2 more	GPathogenic
Select item 1065494	NM_001100.4(ACTA1):c.226G>C (p.Gly76Arg)	ACTA1 (G76R)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GPathogenic
Select item 1065491	NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter)	ARID1A (E59*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GPathogenic
Select item 1065486	NM_004850.5(ROCK2):c.1579C>T (p.Arg527Ter)	ROCK2 (R441* +1 more)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GUncertain significance
Select item 1065485	NM_004850.5(ROCK2):c.3130C>T (p.Arg1044Ter)	ROCK2 (R1044* +1 more)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GUncertain significance
Select item 1065482	NM_001142864.4(PIEZO1):c.6809T>C (p.Ile2270Thr)	PIEZO1 (I2270T)	Single nucleotide variant (missense variant)	PIEZO1-related condition +1 more	GUncertain significance
Select item 1065481	NM_001142864.4(PIEZO1):c.5716_5738del (p.Pro1906fs)	PIEZO1 (P1906fs)	Deletion (frameshift variant)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 1065474	NM_022455.5(NSD1):c.3364dup (p.Ile1122fs)	NSD1 (I1122fs +1 more)	Duplication (frameshift variant)	Non-immune hydrops fetalis	GPathogenic
Select item 1065464	NM_006912.6(RIT1):c.280G>T (p.Glu94Ter)	RIT1 (E111* +2 more)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GPathogenic
Select item 1065463	NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)	HSALR1, PIEZO1 (V598M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065437	NM_015355.4(SUZ12):c.1451del (p.Gly484fs)	SUZ12 (G461fs +1 more)	Deletion (frameshift variant)	Imagawa-Matsumoto syndrome +1 more	GLikely pathogenic
Select item 929160	NM_004985.5(KRAS):c.220A>C (p.Thr74Pro)	KRAS (T74P)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 817718	NM_001127392.3(MYRF):c.789dup (p.Ser264fs)	MYRF (S255fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 464099	NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys)	JAK3 (E818K)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +6 more	GUncertain significance
Select item 439112	NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	LOC106804612, HBA2 (G60D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 373089	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	LZTR1 (R412C)	Single nucleotide variant (missense variant)	LZTR1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 265307	NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)	PTPN11 (T507K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 218332	NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter)	NEU1 (Y390*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis +1 more	GPathogenic
Select item 218331	NM_000434.4(NEU1):c.353-2A>G	NEU1	Single nucleotide variant (splice acceptor variant)	Non-immune hydrops fetalis +1 more	GPathogenic
Select item 190465	NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)	THSD1 (R224*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190464	NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys)	GUSB, LOC126860055 (Y529C +3 more)	Single nucleotide variant (missense variant +1 more)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190463	NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)	GUSB (R103W)	Single nucleotide variant (missense variant +2 more)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 190462	NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)	GALNT14 (R425* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 190461	NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)	FZD6 (Y258C +1 more)	Single nucleotide variant (missense variant +2 more)	Nonsyndromic congenital nail disorder 1 +1 more	GConflicting classifications of pathogenicity
Select item 190460	NM_000181.4(GUSB):c.398G>C (p.Trp133Ser)	GUSB (W133S)	Single nucleotide variant (missense variant +2 more)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190459	NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met)	MYOM1 (V1663M +1 more)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 190458	NM_000308.4(CTSA):c.595del (p.Leu199fs)	CTSA (L199fs +1 more)	Deletion (frameshift variant +1 more)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190457	NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	NEB (R7026* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 190456	NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)	THSD1 (C206Y)	Single nucleotide variant (missense variant)	Lymphatic malformation 13 +1 more	GLikely pathogenic
Select item 190455	NM_001367479.1(DNAH14):c.3755T>A (p.Met1252Lys)	DNAH14 (M1252K)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GBenign
Select item 190453	NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met)	UBN1 (L786M)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190452	NM_000079.4(CHRNA1):c.687C>T (p.Arg229=)	CHRNA1	Single nucleotide variant (synonymous variant)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190451	NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)	C1orf105, PIGC (L220P)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 16 +1 more	GConflicting classifications of pathogenicity
Select item 181528	NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 181522	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +7 more	GPathogenic/Likely pathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 13335	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11 (F285S +1 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +7 more	GPathogenic
Select item 13330	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11 (D61G +1 more)	Single nucleotide variant (missense variant)	PTPN11-related condition +11 more	GPathogenic
Select item 12612	NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	HRAS, LRRC56 (G12D)	Single nucleotide variant (missense variant +1 more)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 12604	NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	HRAS, LRRC56 (G13D)	Single nucleotide variant (missense variant +1 more)	HRAS-related condition +10 more	GPathogenic
Select item 908	NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	GUSB (R357* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 894	NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	GUSB (R382C +3 more)	Single nucleotide variant (missense variant +1 more)	Non-immune hydrops fetalis +1 more	GPathogenic/Likely pathogenic

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Items: 59