ClinVar for MedGen (Select 18780) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691467	NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile)	WDR13 (T212I +1 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691457	NM_198253.3(TERT):c.1185G>T (p.Glu395Asp)	TERT (E395D)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691452	NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro)	LOC126860794, NOTCH1 (L2011P)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691450	NM_153006.3(NAGS):c.1378C>G (p.Leu460Val)	NAGS (L460V)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691447	NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)	LOC101928335, MID2 (I556T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691432	NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn)	DSCAM (I1660N)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691431	NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys)	DROSHA (R108K)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691425	NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser)	CMIP (T399S +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691419	NM_001256.6(CDC27):c.4A>G (p.Thr2Ala)	CDC27 (T2A)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691416	NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser)	CACNA1C, CACNA1C-AS1 (P1910S +13 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691415	NM_207322.3(C2CD4A):c.284A>C (p.His95Pro)	C2CD4A (H95P)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691414	NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)	ATP6V0A1 (R447Q +9 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691412	NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile)	ATP1A3 (L660I +2 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691387	NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met)	TENM2 (L1150M +4 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691386	NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr)	STAT5A (A397T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691381	NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly)	SIPA1 (S123G)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691374	NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp)	RPGR (E259D +2 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691369	NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile)	LOC126807401, PLK2 (T336I +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691367	NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His)	PDE4D (Y145H +11 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691364	NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly)	KCNA6 (D78G)	Single nucleotide variant (non-coding transcript variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691359	NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter)	ITGB1 (W751*)	Single nucleotide variant (nonsense)	Esophageal atresia +1 more	GUncertain significance
Select item 691357	NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr)	INSR (A1110T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691355	NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu)	IGSF3 (R614L +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691349	NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser)	GABRG2 (N52S +3 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 691347	NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly)	TENT5A (A9G)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691346	NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg)	TENT5A (P22R)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GLikely pathogenic
Select item 691345	NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala)	TENT5A (P22A)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 691344	NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter)	DST (S1375* +6 more)	Single nucleotide variant (nonsense)	Esophageal atresia +1 more	GUncertain significance
Select item 691340	NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val)	AMBRA1 (A144V)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance
Select item 682032	NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)	KCNN3	Microsatellite (inframe_insertion)	not specified +1 more	GBenign/Likely benign
Select item 638688	NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)	MAP1B (R1790* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GPathogenic
Select item 523522	NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)	CHD7 (S956*)	Single nucleotide variant (nonsense +1 more)	Atrial septal defect +3 more	GLikely pathogenic
Select item 468958	NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg)	TCF4 (G113R +5 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GLikely benign
Select item 267864	46;XY;t(2;13)(p25.2;q31.3)dn		Translocation	Penile hypospadias +6 more	GUncertain significance

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Items: 34