ClinVar for MedGen (Select 482415) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709619	NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)	NKX2-5 (N246S)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3 +1 more	GUncertain significance
Select item 1705341	NM_004387.4(NKX2-5):c.547A>C (p.Lys183Gln)	NKX2-5 (K183Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3	GUncertain significance
Select item 1513563	NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)	NKX2-5 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	Tetralogy of Fallot +6 more	GUncertain significance
Select item 1439076	NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)	NKX2-5 (K124E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypothyroidism, congenital, nongoitrous, 5 +5 more	GUncertain significance
Select item 1437112	NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)	NKX2-5 (A165V)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3 +7 more	GUncertain significance
Select item 1377875	NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)	NKX2-5 (Q170H)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1308506	NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu)	NKX2-5 (G298E)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1061973	NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup)	NKX2-5	Microsatellite (3 prime UTR variant +1 more)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 1022958	NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)	NKX2-5 (A83G)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +6 more	GUncertain significance
Select item 1021433	NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)	NKX2-5 (A57S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1021042	NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)	NKX2-5 (V174G)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1019319	NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)	NKX2-5 (E60Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +7 more	GUncertain significance
Select item 1016187	NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)	NKX2-5 (R217K)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 939551	NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)	NKX2-5 (N129K)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +6 more	GConflicting classifications of pathogenicity
Select item 862013	NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)	NKX2-5 (P212R)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +7 more	GUncertain significance
Select item 859947	NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)	NKX2-5 (F295L)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 855836	NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)	NKX2-5 (E32D)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 850796	NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)	NKX2-5 (A63V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 837477	NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)	NKX2-5 (A281E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 681683	NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +7 more	GLikely benign
Select item 580887	NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)	NKX2-5 (P275T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GLikely benign
Select item 520891	NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)	NKX2-5 (G298fs)	Duplication (3 prime UTR variant +1 more)	not specified +7 more	GUncertain significance
Select item 519318	NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys)	NKX2-5 (N251K)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 518495	NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)	NKX2-5 (V150I)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 517696	NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +7 more	GLikely benign
Select item 505440	NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)	NKX2-5	Single nucleotide variant (synonymous variant)	Atrial septal defect 7 +7 more	GConflicting classifications of pathogenicity
Select item 468245	NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)	NKX2-5 (Q22P)	Single nucleotide variant (missense variant)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 410969	NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)	NKX2-5 (N291del)	Microsatellite (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 410967	NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu)	NKX2-5 (P275L)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +1 more	GUncertain significance
Select item 392351	NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)	NKX2-5 (A276G)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 378275	NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3 +7 more	GLikely benign
Select item 372743	NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)	NKX2-5 (A119E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +8 more	GUncertain significance
Select item 283727	NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)	NKX2-5 (P257T)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypothyroidism, congenital, nongoitrous, 5 +7 more	GUncertain significance
Select item 190835	NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)	NKX2-5 (R197P)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 190833	NM_004387.4(NKX2-5):c.335-162G>A	NKX2-5 (R143Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Atrial septal defect 7 +6 more	GBenign/Likely benign
Select item 159257	NM_004387.4(NKX2-5):c.783del (p.Ala262fs)	NKX2-5 (A262fs)	Deletion (3 prime UTR variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 30117	NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala)	NKX2-5 (P257A)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3	GPathogenic
Select item 30116	NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala)	NKX2-5 (P59A)	Single nucleotide variant (missense variant)	Ventricular septal defect 3	GPathogenic
Select item 30115	NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)	NKX2-5 (P283Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GUncertain significance
Select item 9011	NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)	NKX2-5 (A219V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 9010	NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)	NKX2-5 (R216C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GUncertain significance

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Items: 41