30492[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 43391	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43366	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +9 more	GConflicting classifications of pathogenicity
Select item 43362	NM_000363.5(TNNI3):c.150+13G>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 43371	NM_000363.5(TNNI3):c.25-8T>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +10 more	GBenign/Likely benign
Select item 137687	NM_000363.5(TNNI3):c.-35C>A	DNAAF3, TNNI3	Single nucleotide variant (5 prime UTR variant)	not provided +9 more	GBenign/Likely benign
Select item 330205	NM_001256715.2(DNAAF3):c.*28A>C	DNAAF3	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 584384	NC_000019.9:g.(?_55670410)_(55678036_?)dup	DNAAF3, DNAAF3-AS1 +1 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 454620	NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)	DNAAF3	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia +3 more	GUncertain significance
Select item 2987489	NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 330206	NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 330207	NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)	DNAAF3 (P577L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 632321	NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)	DNAAF3 (A596fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 2 +1 more	GUncertain significance
Select item 2009488	NM_001256715.2(DNAAF3):c.1580C>A (p.Ala527Asp)	DNAAF3 (A594D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1575369	NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3364369	NM_001256715.2(DNAAF3):c.1570C>T (p.Pro524Ser)	DNAAF3 (P470S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250287	NM_001256715.2(DNAAF3):c.1543G>A (p.Gly515Ser)	DNAAF3 (G582S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 416073	NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2244639	NM_001256715.2(DNAAF3):c.1516C>T (p.Pro506Ser)	DNAAF3 (P452S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2040223	NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1922060	NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr)	DNAAF3 (H550Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454619	NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser)	DNAAF3 (G566S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1134768	NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1099438	NM_001256715.2(DNAAF3):c.1491G>A (p.Leu497=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1778054	NM_001256715.2(DNAAF3):c.1487C>A (p.Pro496His)	DNAAF3 (P496H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410285	NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu)	DNAAF3 (P543L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141933	NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His)	DNAAF3 (Q495H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454618	NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs)	DNAAF3 (L439fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 646805	NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg)	DNAAF3 (E538R +3 more)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 953689	NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter)	DNAAF3 (E437* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 2908272	NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr)	DNAAF3 (A431T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1777212	NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)	DNAAF3 (L429P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1468186	NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His)	DNAAF3 (Q481H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1611478	NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2105547	NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His)	DNAAF3 (D423H +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 566321	NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg)	DNAAF3 (P522R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1135298	NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1979955	NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)	DNAAF3 (P521L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1352048	NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu)	DNAAF3 (G539E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 330208	NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)	DNAAF3 (G539R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1205824	NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 238685	NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs)	DNAAF3 (E416fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2163986	NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln)	DNAAF3 (E416Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 369295	NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)	DNAAF3, TNNI3 (V516M +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 3272521	NM_001256715.2(DNAAF3):c.1396G>A (p.Val466Ile)	DNAAF3 (V513I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1963337	NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2306196	NM_001256715.2(DNAAF3):c.1394C>G (p.Thr465Ser)	DNAAF3 (T512S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2454170	NM_001256715.2(DNAAF3):c.1393A>G (p.Thr465Ala)	DNAAF3 (T411A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 939936	NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr)	DNAAF3 (N511T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1563257	NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=)	DNAAF3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2288364	NM_001256715.2(DNAAF3):c.1387G>A (p.Gly463Ser)	DNAAF3 (G530S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3363575	NM_001256715.2(DNAAF3):c.1382C>A (p.Ala461Asp)	DNAAF3 (A407D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958324	NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)	DNAAF3, DNAAF3-AS1 (E405D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1411674	NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala)	DNAAF3, DNAAF3-AS1 (E459A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1346172	NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu)	DNAAF3, DNAAF3-AS1 (Q505E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525491	NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3221475	NM_001256715.2(DNAAF3):c.1360T>G (p.Phe454Val)	DNAAF3, DNAAF3-AS1 (F400V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1508944	NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys)	DNAAF3, DNAAF3-AS1 (R453C +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2040435	NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr)	DNAAF3, DNAAF3-AS1 (A398T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1810144	NM_001256715.2(DNAAF3):c.1354G>C (p.Ala452Pro)	DNAAF3, DNAAF3-AS1 (A398P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 700663	NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1406122	NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro)	DNAAF3, DNAAF3-AS1 (A512P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 660318	NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)	DNAAF3, DNAAF3-AS1 (G511R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2166837	NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2440894	NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)	DNAAF3, DNAAF3-AS1 (G384* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 2474009	NM_001256715.2(DNAAF3):c.1306G>A (p.Ala436Thr)	DNAAF3, DNAAF3-AS1 (A483T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2965682	NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)	DNAAF3, DNAAF3-AS1 (E378K +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1773858	NM_001256715.2(DNAAF3):c.1293G>T (p.Arg431Ser)	DNAAF3, DNAAF3-AS1 (R431S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 582989	NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp)	DNAAF3, DNAAF3-AS1 (R496W +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2275268	NM_001256715.2(DNAAF3):c.1273G>C (p.Gly425Arg)	DNAAF3, DNAAF3-AS1 (G472R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 495054	NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)	DNAAF3, DNAAF3-AS1 (F372fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 2961596	NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)	DNAAF3, DNAAF3-AS1 (Q366fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 287323	NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)	DNAAF3, DNAAF3-AS1 (R466Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2746903	NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 695337	NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)	DNAAF3, DNAAF3-AS1 (R365W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1773020	NM_001256715.2(DNAAF3):c.1253T>C (p.Val418Ala)	DNAAF3, DNAAF3-AS1 (V364A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410291	NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)	DNAAF3, DNAAF3-AS1 (V485M +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 281896	NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257685	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +6 more	GConflicting classifications of pathogenicity
Select item 756956	NM_001256715.2(DNAAF3):c.1239-9_1239-8inv	DNAAF3, DNAAF3-AS1	Inversion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 257684	NM_001256715.2(DNAAF3):c.1239-8A>G	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1619471	NM_001256715.2(DNAAF3):c.1239-15G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2046746	NM_001256715.2(DNAAF3):c.1239-20A>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2155419	NM_001256715.2(DNAAF3):c.1238+20G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848365	NM_001256715.2(DNAAF3):c.1238+14G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1080185	NM_001256715.2(DNAAF3):c.1238+9G>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2160533	NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln)	DNAAF3, DNAAF3-AS1 (R460Q +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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