ClinVar for MedGen (Select 5559) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076011	NM_020975.6(RET):c.1860C>A (p.Cys620Ter)	RET (C137* +12 more)	Single nucleotide variant (nonsense +1 more)	Aganglionic megacolon	GPathogenic
Select item 870486	NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg)	EDNRB-AS1, EDNRB (L277R +1 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 870485	NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln)	EDNRB, EDNRB-AS1 (E410Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 695031	NM_020975.6(RET):c.1753T>C (p.Cys585Arg)	RET (C585R +12 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 694579	NM_032634.4(PIGO):c.449G>T (p.Gly150Val)	PIGO (G150V)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 692071	NM_020975.6(RET):c.860G>T (p.Arg287Leu)	RET (R287L +3 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 691483	NM_016320.5(NUP98):c.2637G>A (p.Pro879=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691482	NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691481	NM_001122659.3(EDNRB):c.*63G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691480	NM_000130.5(F5):c.1867A>G (p.Thr623Ala)	F5 (T623A)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691479	NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr)	DEPDC1 (S487T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691478	NM_001395413.1(POR):c.1222T>C (p.Ser408Pro)	POR (S408P +1 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691477	NM_032177.4(PHAX):c.379C>T (p.Gln127Ter)	PHAX (Q127*)	Single nucleotide variant (nonsense)	Aganglionic megacolon	GUncertain significance
Select item 691476	NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)	YWHAE (V39A)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691475	NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)	YWHAE (A48T)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691474	NM_020066.5(FMN2):c.162del (p.Gly55fs)	FMN2 (G55fs)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 47 +1 more	GConflicting classifications of pathogenicity
Select item 691408	NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691407	NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)	NRG3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691406	NM_001010848.4(NRG3):c.823+1856C>G	NRG3 (T20R)	Single nucleotide variant (missense variant +2 more)	Aganglionic megacolon	GUncertain significance
Select item 691405	NM_001352890.3(DENND3):c.1350C>T (p.Phe450=)	DENND3	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691404	NM_005264.8(GFRA1):c.1A>T (p.Met1Leu)	GFRA1 (M1L)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691403	NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)	ZEB2	Single nucleotide variant (synonymous variant)	Aganglionic megacolon	GUncertain significance
Select item 691402	NM_001318241.2(TBATA):c.666T>C (p.Ala222=)	TBATA	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691401	NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys)	ZNF592 (Q1145K)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691400	NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn)	LOC105378311, PCDH15 (D47N +1 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691399	NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln)	IKBKB (R213Q +3 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691398	NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile)	MGAM2 (M1005I)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691397	NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)	SLC22A1 (R175C)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691396	NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser)	DPPA5 (G72S)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691395	NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln)	NOTCH4 (R373Q)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691394	NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu)	TMEM165 (A261E)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691393	NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)	IQCF5, IQCF5-AS1 (R95C)	Single nucleotide variant (non-coding transcript variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691392	NM_001003891.3(MED15):c.943C>A (p.Pro315Thr)	MED15 (P244T +2 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691391	NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)	SNF8 (R106Q +3 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691390	NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)	MAN2A2 (D160N)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 691389	NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp)	OAS3 (R464W)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 691388	NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr)	PHRF1 (A355T +2 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 684554	NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)	PACS1 (E357K)	Single nucleotide variant (missense variant)	Schuurs-Hoeijmakers syndrome	GLikely benign
Select item 619274	NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln)	MYBPC3 (P161Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 599635	NM_020975.6(RET):c.3143del (p.Leu1048fs)	RET (L1048fs +1 more)	Deletion (frameshift variant)	Aganglionic megacolon	GPathogenic
Select item 599634	NM_020975.6(RET):c.2865dup (p.Pro956fs)	RET (P956fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 599633	NM_020975.6(RET):c.2437C>T (p.Arg813Trp)	RET (R813W +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 599632	NM_020975.6(RET):c.604G>C (p.Val202Leu)	RET (V202L +1 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 599631	NM_020975.6(RET):c.440T>C (p.Phe147Ser)	RET (F147S)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 599630	NM_020975.6(RET):c.111G>A (p.Trp37Ter)	RET (W37*)	Single nucleotide variant (nonsense)	Aganglionic megacolon	GPathogenic
Select item 599424	NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln)	L1CAM (H861Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GBenign
Select item 599423	NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val)	DSCAM (A788V)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GLikely pathogenic
Select item 599422	NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)	PROKR1 (L340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599421	NM_006941.4(SOX10):c.832A>G (p.Ile278Val)	POLR2F, SOX10 (I278V)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GLikely pathogenic
Select item 599419	NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)	ECE1 (R611W +3 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 599418	NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys)	ECE1 (F340C +3 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 599417	NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)	PHOX2B (R149G)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GLikely pathogenic
Select item 599416	NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu)	NTF3 (G89E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599415	NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)	NRG3 (E651K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 560625	NM_020975.6(RET):c.860G>A (p.Arg287Gln)	RET (R287Q +3 more)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GPathogenic
Select item 523626	NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)	SEMA3D (H424Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 227351	NM_207034.3(EDN3):c.565dup (p.Thr189fs)	EDN3 (T189fs)	Duplication	Waardenburg syndrome type 4B +3 more	GBenign/Likely benign
Select item 161360	NM_020975.6(RET):c.539G>A (p.Arg180Gln)	RET (R180Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 161359	NM_020975.6(RET):c.3191T>C (p.Met1064Thr)	RET (M1064T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 161358	NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	RET (R694Q +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +9 more	GConflicting classifications of pathogenicity
Select item 135188	NM_020975.6(RET):c.1424G>A (p.Arg475Gln)	RET (R475Q +8 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +4 more	GUncertain significance
Select item 127941	NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)	AXIN2 (A684V +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 95998	NM_020975.6(RET):c.867+4del	RET	Deletion (intron variant)	not provided +2 more	GUncertain significance
Select item 95997	NM_020975.6(RET):c.375C>A (p.Val125=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +8 more	GBenign/Likely benign
Select item 45595	NM_014000.3(VCL):c.2388G>A (p.Pro796=)	VCL	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 41845	NM_020975.6(RET):c.785T>C (p.Val262Ala)	RET (V262A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 36723	NM_020975.6(RET):c.166C>A (p.Leu56Met)	RET (L56M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 24947	NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	RET (P587L +16 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 24905	NM_020975.6(RET):c.1858T>G (p.Cys620Gly)	RET (C366G +11 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 24896	NM_020975.6(RET):c.1831T>C (p.Cys611Arg)	RET (C357R +11 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 13952	NM_020975.6(RET):c.73+9277T>C	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +3 more	GBenign; risk factor
Select item 13948	NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	RET (P1039L +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 13944	NM_020975.6(RET):c.1825T>C (p.Cys609Arg)	RET (C609R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 13938	NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	RET (R982C +17 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 13936	NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	RET (Y791F +17 more)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 13923	NM_020975.6(RET):c.95C>T (p.Ser32Leu)	RET (S32L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GLikely pathogenic
Select item 13916	NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	RET (C620Y +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 13915	NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	RET (C620R +12 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic

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Items: 78