83538[geneid] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2488558	NM_031421.5(ODAD4):c.17G>T (p.Gly6Val)	ODAD4 (G6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204023	NM_031421.5(ODAD4):c.79G>A (p.Gly27Arg)	ODAD4 (G27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 254127	NM_031421.5(ODAD4):c.114+1G>T	ODAD4	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 35	GPathogenic
Select item 3204010	NM_031421.5(ODAD4):c.138C>A (p.Asp46Glu)	ODAD4 (D46E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 800740	NM_031421.5(ODAD4):c.158G>A (p.Arg53His)	ODAD4 (R53H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 869383	NM_031421.5(ODAD4):c.245del (p.Lys82fs)	ODAD4 (K82fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 35	GPathogenic
Select item 1243571	NM_031421.5(ODAD4):c.246+15G>A	ODAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3204011	NM_031421.5(ODAD4):c.272T>G (p.Leu91Arg)	ODAD4 (L91R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045956	NM_031421.5(ODAD4):c.310T>C (p.Tyr104His)	ODAD4 (Y104H)	Single nucleotide variant (missense variant +1 more)	ODAD4-related disorder	GLikely benign
Select item 1325249	NM_031421.5(ODAD4):c.316C>T (p.Arg106Ter)	ODAD4 (R106*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 35	GLikely pathogenic
Select item 1034109	NM_031421.5(ODAD4):c.340C>T (p.Arg114Trp)	ODAD4 (R114W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 3204012	NM_031421.5(ODAD4):c.341G>A (p.Arg114Gln)	ODAD4 (R114Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204013	NM_031421.5(ODAD4):c.380T>C (p.Ile127Thr)	ODAD4 (I127T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631558	NM_031421.5(ODAD4):c.397+1G>A	ODAD4	Single nucleotide variant (splice donor variant)	ODAD4-related disorder	GPathogenic
Select item 254128	NM_031421.5(ODAD4):c.425_426insT (p.Lys142fs)	ODAD4 (K142fs)	Insertion (frameshift variant +1 more)	Primary ciliary dyskinesia 35	GPathogenic
Select item 3204015	NM_031421.5(ODAD4):c.428G>A (p.Gly143Glu)	ODAD4 (G143E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204016	NM_031421.5(ODAD4):c.433C>T (p.Leu145Phe)	ODAD4 (L145F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204017	NM_031421.5(ODAD4):c.457G>A (p.Glu153Lys)	ODAD4 (E153K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2631366	NM_031421.5(ODAD4):c.459+1G>A	ODAD4	Single nucleotide variant (splice donor variant)	ODAD4-related disorder	GPathogenic
Select item 3033786	NM_031421.5(ODAD4):c.535G>T (p.Ala179Ser)	ODAD4 (A179S)	Single nucleotide variant (missense variant +1 more)	ODAD4-related disorder	GLikely benign
Select item 3204018	NM_031421.5(ODAD4):c.555G>T (p.Lys185Asn)	ODAD4 (K185N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1281886	NM_031421.5(ODAD4):c.651C>T (p.Gly217=)	ODAD4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2671845	NM_031421.5(ODAD4):c.704dup (p.His235fs)	ODAD4 (H235fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3043572	NM_031421.5(ODAD4):c.738C>T (p.Tyr246=)	ODAD4	Single nucleotide variant (synonymous variant +1 more)	ODAD4-related disorder	GLikely benign
Select item 3204019	NM_031421.5(ODAD4):c.754C>T (p.Arg252Trp)	ODAD4 (R252W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204020	NM_031421.5(ODAD4):c.769G>C (p.Glu257Gln)	ODAD4 (E257Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204021	NM_031421.5(ODAD4):c.782G>A (p.Arg261Gln)	ODAD4 (R261Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204022	NM_031421.5(ODAD4):c.793C>T (p.Arg265Cys)	ODAD4 (R265C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493599	NM_031421.5(ODAD4):c.794G>A (p.Arg265His)	ODAD4 (R265H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042944	NM_031421.5(ODAD4):c.801C>T (p.Pro267=)	ODAD4	Single nucleotide variant (synonymous variant +1 more)	ODAD4-related disorder	GLikely benign
Select item 3204025	NM_031421.5(ODAD4):c.919T>A (p.Trp307Arg)	ODAD4 (W307R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1183645	NM_031421.5(ODAD4):c.1145+140del	ODAD4	Deletion (intron variant)	not provided	GBenign
Select item 3049556	NM_031421.5(ODAD4):c.1221C>T (p.Tyr407=)	ODAD4	Single nucleotide variant (synonymous variant +1 more)	ODAD4-related disorder	GLikely benign
Select item 1298702	NM_031421.5(ODAD4):c.1412A>G (p.His471Arg)	ODAD4 (H471R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1228777	NM_031421.5(ODAD4):c.1443+145del	ODAD4	Deletion (intron variant)	not provided	GBenign
Select item 1227658	NM_031421.5(ODAD4):c.1529-194C>T	ODAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242698	NM_031421.5(ODAD4):c.1529-192C>G	ODAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2690771	NM_031421.5(ODAD4):c.1630G>T (p.Asp544Tyr)	ODAD4 (D544Y)	Single nucleotide variant (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 35	GLikely pathogenic
Select item 3034680	NM_031421.5(ODAD4):c.1802T>C (p.Leu601Pro)	ODAD4 (L601P)	Single nucleotide variant (3 prime UTR variant +2 more)	ODAD4-related disorder	GLikely benign
Select item 3061125	NM_031421.5(ODAD4):c.1918G>A (p.Glu640Lys)	ODAD4 (E640K)	Single nucleotide variant (3 prime UTR variant +2 more)	ODAD4-related disorder	GUncertain significance
Select item 1065353	NM_031421.5(ODAD4):c.1979del (p.Thr660fs)	ODAD4 (T660fs)	Deletion (3 prime UTR variant +2 more)	Heterotaxy	GPathogenic
Select item 1184300	NM_031421.5(ODAD4):c.1993_1997del (p.Asn665fs)	ODAD4 (N665fs)	Deletion (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 35	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 48