"GeneDx"[submitter] AND "LOC126859961"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 1477720	NM_001277115.2(DNAH11):c.3000+3A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1231279	NM_001277115.2(DNAH11):c.3000+64A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272593	NM_001277115.2(DNAH11):c.3000+81T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277627	NM_001277115.2(DNAH11):c.3001-213_3001-211del	DNAH11, LOC126859961	Deletion (intron variant)	not provided	GBenign
Select item 238905	NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp)	DNAH11, LOC126859961 (E1015D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 939279	NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)	DNAH11, LOC126859961 (M1017R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178725	NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)	DNAH11, LOC126859961 (V1023A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 651319	NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)	DNAH11, LOC126859961 (H1037D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 163100	NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)	DNAH11, LOC126859961 (T1038A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 620379	NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)	DNAH11, LOC126859961 (R1045*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 571725	NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)	DNAH11, LOC126859961 (R1045Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1042484	NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)	DNAH11, LOC126859961 (E1047K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 194618	NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1260259	NM_001277115.2(DNAH11):c.3255+22T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163101	NM_001277115.2(DNAH11):c.3256-10C>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 575674	NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)	LOC126859961, DNAH11 (S1119N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity