DNAH5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 148055	GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1	ANKRD33B, ATPSCKMT +113 more	Copy number loss	See cases	GPathogenic
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 149185	GRCh38/hg38 5p15.2(chr5:11042340-14796203)x1	ANKH, CTNND2 +65 more	Copy number loss	See cases	GUncertain significance
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 907849	NM_001369.3(DNAH5):c.*1652C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350902	NM_001369.3(DNAH5):c.*1613G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 907850	NM_001369.3(DNAH5):c.*1591T>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 350903	NM_001369.3(DNAH5):c.*1506G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350904	NM_001369.3(DNAH5):c.*1502C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350905	NM_001369.3(DNAH5):c.*1389C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350906	NM_001369.3(DNAH5):c.*1361G>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350907	NM_001369.3(DNAH5):c.*1342T>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 904535	NM_001369.3(DNAH5):c.*1298T>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350908	NM_001369.3(DNAH5):c.*1156C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350909	NM_001369.3(DNAH5):c.*1119T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350910	NM_001369.3(DNAH5):c.*1048A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 904536	NM_001369.3(DNAH5):c.*920A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 904537	NM_001369.3(DNAH5):c.*891A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905325	NM_001369.3(DNAH5):c.*883T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350911	NM_001369.3(DNAH5):c.*802A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905326	NM_001369.3(DNAH5):c.*775G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 905327	NM_001369.3(DNAH5):c.*697A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350912	NM_001369.3(DNAH5):c.*649G>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 350913	NM_001369.3(DNAH5):c.*563G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350914	NM_001369.3(DNAH5):c.*445G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905328	NM_001369.3(DNAH5):c.*427G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350915	NM_001369.3(DNAH5):c.*426C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906932	NM_001369.3(DNAH5):c.*355G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906933	NM_001369.3(DNAH5):c.*349G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906934	NM_001369.3(DNAH5):c.*305C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906935	NM_001369.3(DNAH5):c.*291G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906936	NM_001369.3(DNAH5):c.*281T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906937	NM_001369.3(DNAH5):c.*100G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350916	NM_001369.3(DNAH5):c.*92G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 907915	NM_001369.3(DNAH5):c.*84C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 583675	NC_000005.9:g.(?_13692073)_(13692264_?)dup	DNAH5	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3004242	NM_001369.3(DNAH5):c.13869C>G (p.Val4623=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1771389	NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1994615	NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)	DNAH5 (C4621S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454747	NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr)	DNAH5 (C4621Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2039559	NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)	DNAH5 (V4617F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1771349	NM_001369.3(DNAH5):c.13844G>C (p.Arg4615Pro)	DNAH5 (R4615P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238965	NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys)	DNAH5 (R4615C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083984	NM_001369.3(DNAH5):c.13840C>T (p.Leu4614Phe)	DNAH5 (L4614F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2019670	NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1666621	NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)	DNAH5 (V4613M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1534151	NM_001369.3(DNAH5):c.13827T>C (p.Pro4609=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2194516	NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)	DNAH5 (P4609A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 350917	NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr)	DNAH5 (P4609T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350918	NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)	DNAH5 (A4606D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2781399	NM_001369.3(DNAH5):c.13807C>T (p.Leu4603Phe)	DNAH5 (L4603F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2982071	NM_001369.3(DNAH5):c.13804G>T (p.Asp4602Tyr)	DNAH5 (D4602Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022330	NM_001369.3(DNAH5):c.13798G>T (p.Ala4600Ser)	DNAH5 (A4600S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1358613	NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)	DNAH5 (A4600T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1095044	NM_001369.3(DNAH5):c.13797C>T (p.Ala4599=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3018059	NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1101669	NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525489	NM_001369.3(DNAH5):c.13779G>A (p.Thr4593=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 219653	NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	DNAH5 (T4593M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1370366	NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)	DNAH5 (R4592P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238964	NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	DNAH5 (R4592Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1979994	NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1066064	NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	DNAH5 (R4592*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1137818	NM_001369.3(DNAH5):c.13773T>G (p.Val4591=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 990998	NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu)	DNAH5 (K4589E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance

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