C0021359[trait identifier] AND "MAGI's Lab - Research, MAGI Group"[sub - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161609	NM_003243.5(TGFBR3):c.2519C>T (p.Thr840Met)	TGFBR3 (T839M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 31067	NM_181426.2(CCDC39):c.357+1G>C	CCDC39	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 16023	NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	GNRHR (Q106R)	Single nucleotide variant (missense variant)	Isolated congenital hypogonadotropic hypogonadism +4 more	GPathogenic/Likely pathogenic
Select item 220051	NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)	DNAH5 (R4084Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454795	NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	DNAH5 (R2255*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 238981	NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)	DNAH5 (R1805C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 454639	NM_001277115.2(DNAH11):c.1108C>A (p.Leu370Met)	DNAH11 (L370M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 53774	NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	CFTR (A120T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 219537	NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	CFTR (L967S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +5 more	GConflicting classifications of pathogenicity
Select item 7229	NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	CFTR, LOC111674472 (L997F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 53733	NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	CFTR (M1137V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 362891	NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)	FGFR1 (R822H +6 more)	Single nucleotide variant (missense variant +1 more)	Osteoglophonic dysplasia +8 more	GConflicting classifications of pathogenicity
Select item 473106	NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met)	DNAAF11 (I9M)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 216677	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	DNAI1 (R650C +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 180150	NM_013251.4(TAC3):c.248A>G (p.His83Arg)	TAC3 (H83R)	Single nucleotide variant (missense variant +2 more)	Delayed puberty +1 more	GConflicting classifications of pathogenicity
Select item 422609	NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)	CATSPER2 (W307S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 31698	NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	DNAAF19 (H154P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 17 +3 more	GPathogenic/Likely pathogenic
Select item 3449	NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	PROKR2 (L173R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity