DNAH17-AS1[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 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 2365965	NM_173628.4(DNAH17):c.7572G>A (p.Met2524Ile)	DNAH17, DNAH17-AS1 (M2524I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234915	NM_173628.4(DNAH17):c.7558T>G (p.Phe2520Val)	DNAH17, DNAH17-AS1 (F2520V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2286266	NM_173628.4(DNAH17):c.7552G>A (p.Val2518Ile)	DNAH17, DNAH17-AS1 (V2518I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1237404	NM_173628.4(DNAH17):c.7484-65C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1269738	NM_173628.4(DNAH17):c.7484-174G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230694	NM_173628.4(DNAH17):c.7483+122A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269897	NM_173628.4(DNAH17):c.7483+24T>C	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182114	NM_173628.4(DNAH17):c.7483+19C>T	DNAH17-AS1, DNAH17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2366715	NM_173628.4(DNAH17):c.7445T>C (p.Val2482Ala)	DNAH17, DNAH17-AS1 (V2482A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040525	NM_173628.4(DNAH17):c.7432C>T (p.Leu2478=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 402680	NM_173628.4(DNAH17):c.7422G>C (p.Thr2474=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2648361	NM_173628.4(DNAH17):c.7398G>A (p.Gly2466=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289586	NM_173628.4(DNAH17):c.7366A>G (p.Asn2456Asp)	DNAH17, DNAH17-AS1 (N2456D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286981	NM_173628.4(DNAH17):c.7348C>T (p.Pro2450Ser)	DNAH17, DNAH17-AS1 (P2450S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294680	NM_173628.4(DNAH17):c.7295C>T (p.Thr2432Met)	DNAH17, DNAH17-AS1 (T2432M)	Single nucleotide variant (missense variant)	DNAH17-related disorder +1 more	GBenign
Select item 2230461	NM_173628.4(DNAH17):c.7284G>T (p.Leu2428Phe)	DNAH17, DNAH17-AS1 (L2428F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282044	NM_173628.4(DNAH17):c.7276-27TCCCTCCCCT[3]	DNAH17, DNAH17-AS1	Microsatellite (intron variant)	DNAH17-related disorder +1 more	GBenign
Select item 1263686	NM_173628.4(DNAH17):c.7275+45A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2619035	NM_173628.4(DNAH17):c.7233T>G (p.Asp2411Glu)	DNAH17, DNAH17-AS1 (D2411E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083762	NM_173628.4(DNAH17):c.7223C>G (p.Pro2408Arg)	DNAH17, DNAH17-AS1 (P2408R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335193	NM_173628.4(DNAH17):c.7166C>T (p.Pro2389Leu)	DNAH17, DNAH17-AS1 (P2389L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083761	NM_173628.4(DNAH17):c.7160A>G (p.Lys2387Arg)	DNAH17, DNAH17-AS1 (K2387R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401284	NM_173628.4(DNAH17):c.7144G>C (p.Glu2382Gln)	DNAH17, DNAH17-AS1 (E2382Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 39 +1 more	GUncertain significance
Select item 2334128	NM_173628.4(DNAH17):c.7144G>A (p.Glu2382Lys)	DNAH17, DNAH17-AS1 (E2382K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272734	NM_173628.4(DNAH17):c.7120G>A (p.Glu2374Lys)	DNAH17, DNAH17-AS1 (E2374K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1262644	NM_173628.4(DNAH17):c.7102-41T>C	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2353551	NM_173628.4(DNAH17):c.7087A>G (p.Met2363Val)	DNAH17, DNAH17-AS1 (M2363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365313	NM_173628.4(DNAH17):c.7084G>A (p.Ala2362Thr)	DNAH17, DNAH17-AS1 (A2362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083760	NM_173628.4(DNAH17):c.7078G>A (p.Gly2360Ser)	DNAH17, DNAH17-AS1 (G2360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083759	NM_173628.4(DNAH17):c.7048T>G (p.Tyr2350Asp)	DNAH17, DNAH17-AS1 (Y2350D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042078	NM_173628.4(DNAH17):c.7041C>T (p.Tyr2347=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 3075982	NM_173628.4(DNAH17):c.7020dup (p.Asp2341fs)	DNAH17, DNAH17-AS1 (D2341fs)	Duplication (frameshift variant)	Male infertility with spermatogenesis disorder	GLikely pathogenic
Select item 3272728	NM_173628.4(DNAH17):c.7018C>A (p.Pro2340Thr)	DNAH17, DNAH17-AS1 (P2340T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290174	NM_173628.4(DNAH17):c.7012G>A (p.Val2338Met)	DNAH17, DNAH17-AS1 (V2338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049087	NM_173628.4(DNAH17):c.7011C>T (p.Thr2337=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 2365158	NM_173628.4(DNAH17):c.7001C>T (p.Thr2334Met)	DNAH17, DNAH17-AS1 (T2334M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402681	NM_173628.4(DNAH17):c.6975T>C (p.Ile2325=)	DNAH17-AS1, DNAH17	Single nucleotide variant (synonymous variant)	DNAH17-related disorder +2 more	GBenign
Select item 1266948	NM_173628.4(DNAH17):c.6972G>A (p.Thr2324=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2358223	NM_173628.4(DNAH17):c.6959C>T (p.Thr2320Met)	DNAH17, DNAH17-AS1 (T2320M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2305212	NM_173628.4(DNAH17):c.6944C>T (p.Pro2315Leu)	DNAH17, DNAH17-AS1 (P2315L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262913	NM_173628.4(DNAH17):c.6880C>A (p.Leu2294Ile)	DNAH17, DNAH17-AS1 (L2294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286171	NM_173628.4(DNAH17):c.6847A>C (p.Lys2283Gln)	DNAH17, DNAH17-AS1 (K2283Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1237478	NM_173628.4(DNAH17):c.6818+212A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280236	NM_173628.4(DNAH17):c.6818+202A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258718	NM_173628.4(DNAH17):c.6818+155_6818+158dup	DNAH17, DNAH17-AS1	Duplication (intron variant)	not provided	GBenign
Select item 3032922	NM_173628.4(DNAH17):c.6818+1G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (splice donor variant)	DNAH17-related disorder	GLikely pathogenic
Select item 2223784	NM_173628.4(DNAH17):c.6808G>A (p.Gly2270Arg)	DNAH17, DNAH17-AS1 (G2270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044026	NM_173628.4(DNAH17):c.6801C>T (p.Ala2267=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 2550532	NM_173628.4(DNAH17):c.6785T>A (p.Leu2262His)	DNAH17, DNAH17-AS1 (L2262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341566	NM_173628.4(DNAH17):c.6749C>T (p.Thr2250Met)	DNAH17, DNAH17-AS1 (T2250M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034383	NM_173628.4(DNAH17):c.6729C>T (p.Phe2243=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 2525285	NM_173628.4(DNAH17):c.6709C>T (p.Arg2237Cys)	DNAH17, DNAH17-AS1 (R2237C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362246	NM_173628.4(DNAH17):c.6701C>T (p.Pro2234Leu)	DNAH17, DNAH17-AS1 (P2234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1288729	NM_173628.4(DNAH17):c.6669+177A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294734	NM_173628.4(DNAH17):c.6669+49A>G	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048062	NM_173628.4(DNAH17):c.6669+4C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	DNAH17-related disorder	GLikely benign
Select item 2549069	NM_173628.4(DNAH17):c.6657G>A (p.Met2219Ile)	DNAH17, DNAH17-AS1 (M2219I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323426	NM_173628.4(DNAH17):c.6635T>C (p.Ile2212Thr)	DNAH17, DNAH17-AS1 (I2212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385028	NM_173628.4(DNAH17):c.6604A>G (p.Ile2202Val)	DNAH17, DNAH17-AS1 (I2202V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2285548	NM_173628.4(DNAH17):c.6600G>T (p.Trp2200Cys)	DNAH17, DNAH17-AS1 (W2200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694863	NM_173628.4(DNAH17):c.6589G>A (p.Gly2197Ser)	DNAH17, DNAH17-AS1 (G2197S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599509	NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln)	DNAH17, DNAH17-AS1 (R2188Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2672712	NM_173628.4(DNAH17):c.6542-6C>T	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3056843	NM_173628.4(DNAH17):c.6492C>T (p.Cys2164=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3272753	NM_173628.4(DNAH17):c.6487A>G (p.Thr2163Ala)	DNAH17, DNAH17-AS1 (T2163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041997	NM_173628.4(DNAH17):c.6469C>T (p.Leu2157=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 3272703	NM_173628.4(DNAH17):c.6463G>A (p.Val2155Met)	DNAH17, DNAH17-AS1 (V2155M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648362	NM_173628.4(DNAH17):c.6462C>T (p.Ala2154=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	DNAH17-related disorder +1 more	GBenign
Select item 2360613	NM_173628.4(DNAH17):c.6426C>G (p.Asn2142Lys)	DNAH17, DNAH17-AS1 (N2142K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366466	NM_173628.4(DNAH17):c.6425A>G (p.Asn2142Ser)	DNAH17, DNAH17-AS1 (N2142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648363	NM_173628.4(DNAH17):c.6420C>A (p.Ser2140=)	DNAH17, DNAH17-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3083758	NM_173628.4(DNAH17):c.6416A>G (p.Lys2139Arg)	DNAH17, DNAH17-AS1 (K2139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460997	NM_173628.4(DNAH17):c.6416A>C (p.Lys2139Thr)	DNAH17, DNAH17-AS1 (K2139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272717	NM_173628.4(DNAH17):c.6412C>G (p.Leu2138Val)	DNAH17, DNAH17-AS1 (L2138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1220839	NM_173628.4(DNAH17):c.6409-47G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221035	NM_173628.4(DNAH17):c.6409-126T>C	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277531	NM_173628.4(DNAH17):c.6408+35C>T	DNAH17, DNAH17-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499678	NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)	DNAH17, DNAH17-AS1 +1 more (A2130V)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 39	GUncertain significance
Select item 2215078	NM_173628.4(DNAH17):c.6379G>A (p.Val2127Ile)	DNAH17, DNAH17-AS1 +1 more (V2127I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2327776	NM_173628.4(DNAH17):c.6370G>A (p.Val2124Met)	DNAH17, DNAH17-AS1 +1 more (V2124M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269254	NM_173628.4(DNAH17):c.6370G>C (p.Val2124Leu)	DNAH17, DNAH17-AS1 +1 more (V2124L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701808	NM_173628.4(DNAH17):c.6308C>T (p.Ala2103Val)	DNAH17, DNAH17-AS1 +1 more (A2103V)	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1698435	NM_173628.4(DNAH17):c.[11803C>T;6308C>T]	DNAH17, DNAH17-AS1 +1 more (A2103V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Spermatogenic failure 39	GPathogenic
Select item 2360049	NM_173628.4(DNAH17):c.6299A>G (p.Lys2100Arg)	DNAH17, DNAH17-AS1 +1 more (K2100R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1277804	NM_173628.4(DNAH17):c.6271-208del	DNAH17, DNAH17-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2648364	NM_173628.4(DNAH17):c.6270+4G>A	DNAH17, DNAH17-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2251711	NM_173628.4(DNAH17):c.6260A>C (p.Asn2087Thr)	DNAH17, DNAH17-AS1 (N2087T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038045	NM_173628.4(DNAH17):c.6251G>A (p.Arg2084Gln)	DNAH17, DNAH17-AS1 (R2084Q)	Single nucleotide variant (missense variant)	DNAH17-related disorder	GBenign
Select item 2289443	NM_173628.4(DNAH17):c.6250C>T (p.Arg2084Trp)	DNAH17, DNAH17-AS1 (R2084W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272699	NM_173628.4(DNAH17):c.6245G>A (p.Arg2082Gln)	DNAH17, DNAH17-AS1 (R2082Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241606	NM_173628.4(DNAH17):c.6244C>G (p.Arg2082Gly)	DNAH17, DNAH17-AS1 (R2082G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272731	NM_173628.4(DNAH17):c.6238G>A (p.Val2080Met)	DNAH17, DNAH17-AS1 (V2080M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083757	NM_173628.4(DNAH17):c.6238G>T (p.Val2080Leu)	DNAH17, DNAH17-AS1 (V2080L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083756	NM_173628.4(DNAH17):c.6227C>G (p.Pro2076Arg)	DNAH17, DNAH17-AS1 (P2076R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476612	NM_173628.4(DNAH17):c.6214G>A (p.Gly2072Arg)	DNAH17, DNAH17-AS1 (G2072R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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