C2678473[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 359608	NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)	DNAH11 (D680N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 1030335	NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)	DNAH11, LOC126859961 (Q1075*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 575674	NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)	DNAH11, LOC126859961 (S1119N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1033403	NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 228332	NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)	DNAH11 (R1445*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +2 more	GPathogenic
Select item 945304	NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)	DNAH11 (S1465fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1030336	NM_001277115.2(DNAH11):c.4828T>C (p.Cys1610Arg)	DNAH11 (C1610R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 228333	NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11 (R2082*)	Single nucleotide variant (nonsense)	DNAH11-related condition +3 more	GPathogenic
Select item 220425	NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)	DNAH11 (R2432W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257933	NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)	DNAH11 (I2675V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1031277	NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)	DNAH11 (D2937N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 958010	NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)	DNAH11 (I3008V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1030332	NM_001277115.2(DNAH11):c.10795C>G (p.Gln3599Glu)	DNAH11 (Q3599E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1393661	NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile)	DNAH11 (V3836I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1030333	NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)	DNAH11 (R3845L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 937089	NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala)	DNAH11 (G3905A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454644	NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)	DNAH11 (P3935L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 220048	NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)	DNAH11 (P4211L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 1030334	NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)	DNAH11 (T4331M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 525412	NM_001277115.2(DNAH11):c.13515_13526dup (p.Leu4507_Val4510dup)	DNAH11, CDCA7L	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity

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Items: 20