C1837618[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238964	NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	DNAH5 (R4592Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 226595	NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)	DNAH5 (P4488T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 557901	NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	DNAH5 (W4206*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 238960	NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	DNAH5 (V4175M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 238959	NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)	DNAH5 (R4158W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 219652	NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)	DNAH5 (R4127C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 220051	NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)	DNAH5 (R4084Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 226591	NM_001369.3(DNAH5):c.12033+7A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 228607	NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)	DNAH5 (D3992H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 140605	NM_001369.3(DNAH5):c.11570+124G>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 228606	NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)	DNAH5 (R3813W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 238957	NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)	DNAH5, LOC107457585 (T3744N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 552084	NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)	DNAH5 (I3714V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 238990	NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)	DNAH5 (A3226V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 226607	NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 219734	NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)	DNAH5 (R3000Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 281131	NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	DNAH5 (Q2949E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178746	NM_001369.3(DNAH5):c.8449-12T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 407215	NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)	DNAH5 (R2771H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 188229	NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	DNAH5 (E2666D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 197541	NM_001369.3(DNAH5):c.7752+10T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 197517	NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	DNAH5 (R2511W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 258058	NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 226604	NM_001369.3(DNAH5):c.6579+6A>G	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 226603	NM_001369.3(DNAH5):c.6444+8A>G	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 454789	NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)	DNAH5 (R2013*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 351087	NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)	DNAH5 (T1950A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 226601	NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 238981	NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)	DNAH5 (R1805C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 238977	NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)	DNAH5 (R1654Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 238975	NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +2 more	GBenign/Likely benign
Select item 258026	NM_001369.3(DNAH5):c.4053+13C>T	DNAH5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 163152	NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	DNAH5 (Q1172K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 163153	NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)	DNAH5 (V1101M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign/Likely benign
Select item 178752	NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)	DNAH5 (M1081V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 163156	NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)	DNAH5 (E895K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign/Likely benign
Select item 226596	NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)	DNAH5 (L591R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 178756	NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)	DNAH5 (N549K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 555559	NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)	DNAH5 (F476fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 226594	NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 188080	NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)	DNAH5 (N402K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 219733	NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)	DNAH5 (V400M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 39651	NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	DNAH5 (I374T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 238955	NM_001369.3(DNAH5):c.1090-8T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 219719	NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)	DNAH5 (A192T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220045	NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)	DNAH5 (R30W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178759	NM_001369.3(DNAH5):c.58-13T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign

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Items: 48