DNAH17[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 60174	GRCh38/hg38 17q25.3(chr17:78338863-78426117)x3	DNAH17, LOC105371912 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1246795	NM_173628.4(DNAH17):c.*105C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3033897	NM_024419.5(PGS1):c.*11-158G>A	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +1 more)	PGS1-related disorder	GLikely benign
Select item 2648341	NM_173628.4(DNAH17):c.13365C>T (p.Ala4455=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2553826	NM_173628.4(DNAH17):c.13346C>G (p.Ala4449Gly)	DNAH17, PGS1 (A4449G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350639	NM_173628.4(DNAH17):c.13346C>A (p.Ala4449Glu)	DNAH17, PGS1 (A4449E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210343	NM_173628.4(DNAH17):c.13346C>T (p.Ala4449Val)	DNAH17, PGS1 (A4449V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374844	NM_173628.4(DNAH17):c.13330A>G (p.Thr4444Ala)	DNAH17, PGS1 (T4444A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355990	NM_173628.4(DNAH17):c.13312T>C (p.Trp4438Arg)	DNAH17, PGS1 (W4438R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648342	NM_173628.4(DNAH17):c.13296C>T (p.Arg4432=)	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1241586	NM_173628.4(DNAH17):c.13291A>G (p.Ile4431Val)	DNAH17, PGS1 (I4431V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3272700	NM_173628.4(DNAH17):c.13289G>A (p.Arg4430His)	DNAH17, PGS1 (R4430H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648343	NM_024419.5(PGS1):c.*11-44C>A	DNAH17, PGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2246516	NM_173628.4(DNAH17):c.13243C>T (p.Arg4415Cys)	DNAH17, PGS1 (R4415C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083706	NM_173628.4(DNAH17):c.13219T>A (p.Phe4407Ile)	DNAH17, PGS1 (F4407I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083705	NM_173628.4(DNAH17):c.13216A>G (p.Ile4406Val)	DNAH17, PGS1 (I4406V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270779	NM_173628.4(DNAH17):c.13184G>A (p.Arg4395Gln)	DNAH17, PGS1 (R4395Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3049256	NM_173628.4(DNAH17):c.13183C>T (p.Arg4395Trp)	DNAH17, PGS1 (R4395W)	Single nucleotide variant (missense variant +2 more)	DNAH17-related disorder	GLikely benign
Select item 1232395	NM_173628.4(DNAH17):c.13142-139C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1269355	NM_173628.4(DNAH17):c.13142-159C>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1246188	NM_173628.4(DNAH17):c.13142-203A>T	DNAH17, PGS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1241734	NM_173628.4(DNAH17):c.13141+201dup	DNAH17	Duplication (intron variant)	not provided	GBenign
Select item 1242192	NM_173628.4(DNAH17):c.13141+62_13141+66del	DNAH17	Deletion (intron variant)	not provided	GBenign
Select item 402669	NM_173628.4(DNAH17):c.13125C>T (p.Tyr4375=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 402670	NM_173628.4(DNAH17):c.13104G>A (p.Pro4368=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 402671	NM_173628.4(DNAH17):c.13101T>C (p.Pro4367=)	DNAH17	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3083704	NM_173628.4(DNAH17):c.13099C>T (p.Pro4367Ser)	DNAH17 (P4367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325324	NM_173628.4(DNAH17):c.13096G>A (p.Ala4366Thr)	DNAH17 (A4366T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588448	NM_173628.4(DNAH17):c.13082G>A (p.Arg4361Gln)	DNAH17 (R4361Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046448	NM_173628.4(DNAH17):c.13065G>A (p.Glu4355=)	DNAH17	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 2349655	NM_173628.4(DNAH17):c.13063G>A (p.Glu4355Lys)	DNAH17 (E4355K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083702	NM_173628.4(DNAH17):c.13037C>T (p.Pro4346Leu)	DNAH17 (P4346L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038096	NM_173628.4(DNAH17):c.13033T>C (p.Trp4345Arg)	DNAH17 (W4345R)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GBenign
Select item 2599014	NM_173628.4(DNAH17):c.13025A>G (p.Lys4342Arg)	DNAH17 (K4342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375317	NM_173628.4(DNAH17):c.13017G>A (p.Met4339Ile)	DNAH17 (M4339I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269845	NM_173628.4(DNAH17):c.13016T>C (p.Met4339Thr)	DNAH17 (M4339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599013	NM_173628.4(DNAH17):c.13015A>G (p.Met4339Val)	DNAH17 (M4339V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378682	NM_173628.4(DNAH17):c.13004T>C (p.Ile4335Thr)	DNAH17 (I4335T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025960	NM_173628.4(DNAH17):c.12998C>T (p.Thr4333Met)	DNAH17 (T4333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025445	NM_173628.4(DNAH17):c.12957C>T (p.Thr4319=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578798	NM_173628.4(DNAH17):c.12942T>G (p.Phe4314Leu)	DNAH17 (F4314L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1245661	NM_173628.4(DNAH17):c.12916-57G>T	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294619	NM_173628.4(DNAH17):c.12916-143G>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263175	NM_173628.4(DNAH17):c.12916-161T>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270370	NM_173628.4(DNAH17):c.12916-197_12916-186del	DNAH17	Deletion (intron variant)	not provided	GBenign
Select item 1233529	NM_173628.4(DNAH17):c.12916-191_12916-186del	DNAH17	Deletion (intron variant)	not provided	GBenign
Select item 1220815	NM_173628.4(DNAH17):c.12916-192_12916-186del	DNAH17	Deletion (intron variant)	not provided	GBenign
Select item 1294618	NM_173628.4(DNAH17):c.12915+218AG[3]	DNAH17	Microsatellite (intron variant)	not provided	GBenign
Select item 1294617	NM_173628.4(DNAH17):c.12915+166A>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267647	NM_173628.4(DNAH17):c.12915+65A>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038407	NM_173628.4(DNAH17):c.12915+7G>T	DNAH17	Single nucleotide variant (intron variant)	DNAH17-related disorder	GBenign
Select item 2454225	NM_173628.4(DNAH17):c.12908G>A (p.Arg4303His)	DNAH17 (R4303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648344	NM_173628.4(DNAH17):c.12891C>T (p.Tyr4297=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031008	NM_173628.4(DNAH17):c.12882G>A (p.Ala4294=)	DNAH17	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 2511650	NM_173628.4(DNAH17):c.12873G>A (p.Met4291Ile)	DNAH17 (M4291I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083701	NM_173628.4(DNAH17):c.12869T>C (p.Met4290Thr)	DNAH17 (M4290T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402703	NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln)	DNAH17 (R4285Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2598838	NM_173628.4(DNAH17):c.12853C>T (p.Arg4285Trp)	DNAH17 (R4285W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544537	NM_173628.4(DNAH17):c.12832G>A (p.Val4278Met)	DNAH17 (V4278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052810	NM_173628.4(DNAH17):c.12810C>A (p.Ser4270=)	DNAH17	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3083700	NM_173628.4(DNAH17):c.12793G>A (p.Asp4265Asn)	DNAH17 (D4265N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648345	NM_173628.4(DNAH17):c.12792C>T (p.Thr4264=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303252	NM_173628.4(DNAH17):c.12778C>G (p.Leu4260Val)	DNAH17 (L4260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1236893	NM_173628.4(DNAH17):c.12772-134T>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294616	NM_173628.4(DNAH17):c.12771+135T>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294614	NM_173628.4(DNAH17):c.12771+104T>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268889	NM_173628.4(DNAH17):c.12771+74C>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3083699	NM_173628.4(DNAH17):c.12740G>A (p.Arg4247His)	DNAH17 (R4247H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483674	NM_173628.4(DNAH17):c.12737G>A (p.Arg4246His)	DNAH17 (R4246H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2524563	NM_173628.4(DNAH17):c.12730G>A (p.Glu4244Lys)	DNAH17 (E4244K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052805	NM_173628.4(DNAH17):c.12720C>T (p.Ile4240=)	DNAH17	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 2600635	NM_173628.4(DNAH17):c.12719T>A (p.Ile4240Asn)	DNAH17 (I4240N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272727	NM_173628.4(DNAH17):c.12707A>G (p.Glu4236Gly)	DNAH17 (E4236G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402672	NM_173628.4(DNAH17):c.12681C>T (p.Tyr4227=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2240047	NM_173628.4(DNAH17):c.12665C>T (p.Ala4222Val)	DNAH17 (A4222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034299	NM_173628.4(DNAH17):c.12653T>C (p.Met4218Thr)	DNAH17 (M4218T)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GBenign
Select item 3272754	NM_173628.4(DNAH17):c.12651C>G (p.Ile4217Met)	DNAH17 (I4217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516244	NM_173628.4(DNAH17):c.12644C>G (p.Ala4215Gly)	DNAH17 (A4215G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2462721	NM_173628.4(DNAH17):c.12641T>A (p.Met4214Lys)	DNAH17 (M4214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402673	NM_173628.4(DNAH17):c.12627G>A (p.Pro4209=)	DNAH17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2556492	NM_173628.4(DNAH17):c.12607G>A (p.Asp4203Asn)	DNAH17 (D4203N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294622	NM_173628.4(DNAH17):c.12589-169A>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297928	NM_173628.4(DNAH17):c.12588+124T>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294620	NM_173628.4(DNAH17):c.12588+104G>C	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2370067	NM_173628.4(DNAH17):c.12580G>A (p.Glu4194Lys)	DNAH17 (E4194K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083698	NM_173628.4(DNAH17):c.12578G>T (p.Arg4193Leu)	DNAH17 (R4193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371737	NM_173628.4(DNAH17):c.12577C>T (p.Arg4193Cys)	DNAH17 (R4193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207261	NM_173628.4(DNAH17):c.12548C>T (p.Thr4183Met)	DNAH17 (T4183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482073	NM_173628.4(DNAH17):c.12500C>T (p.Thr4167Ile)	DNAH17 (T4167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083697	NM_173628.4(DNAH17):c.12427G>A (p.Glu4143Lys)	DNAH17 (E4143K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250522	NM_173628.4(DNAH17):c.12406-154A>G	DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272634	NM_173628.4(DNAH17):c.12405+175_12405+177dup	DNAH17	Duplication (intron variant)	not provided	GBenign
Select item 1267773	NM_173628.4(DNAH17):c.12405+193_12405+197del	DNAH17	Deletion (intron variant)	not provided	GBenign
Select item 1252289	NM_173628.4(DNAH17):c.12405+175_12405+176dup	DNAH17	Duplication (intron variant)	not provided	GBenign
Select item 1241666	NM_173628.4(DNAH17):c.12405+175dup	DNAH17	Duplication (intron variant)	not provided	GBenign

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