2948[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060195, LOC130060196 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, LOC130060206 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 3047735	NM_020877.5(DNAH2):c.-9G>T	DNAH2	Single nucleotide variant (5 prime UTR variant)	DNAH2-related disorder	GLikely benign
Select item 2308075	NM_020877.5(DNAH2):c.62G>C (p.Trp21Ser)	DNAH2 (W21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469559	NM_020877.5(DNAH2):c.70C>T (p.Arg24Trp)	DNAH2 (R24W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330426	NM_020877.5(DNAH2):c.145G>A (p.Glu49Lys)	DNAH2 (E49K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311896	NM_020877.5(DNAH2):c.148C>T (p.Leu50Phe)	DNAH2 (L50F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083819	NM_020877.5(DNAH2):c.152C>G (p.Pro51Arg)	DNAH2 (P51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365350	NM_020877.5(DNAH2):c.248G>A (p.Arg83Gln)	DNAH2 (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052762	NM_020877.5(DNAH2):c.255G>A (p.Ala85=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GBenign
Select item 402705	NM_020877.5(DNAH2):c.294T>C (p.His98=)	DNAH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2472085	NM_020877.5(DNAH2):c.403C>A (p.Gln135Lys)	DNAH2 (Q135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083841	NM_020877.5(DNAH2):c.411G>T (p.Gln137His)	DNAH2 (Q137H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647369	NM_020877.5(DNAH2):c.468A>T (p.Ala156=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3083846	NM_020877.5(DNAH2):c.481G>A (p.Gly161Arg)	DNAH2 (G161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623444	NM_020877.5(DNAH2):c.481G>C (p.Gly161Arg)	DNAH2 (G161R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402716	NM_020877.5(DNAH2):c.492G>A (p.Arg164=)	DNAH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3083847	NM_020877.5(DNAH2):c.506C>T (p.Pro169Leu)	DNAH2 (P169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462655	NM_020877.5(DNAH2):c.517C>T (p.Arg173Trp)	DNAH2 (R173W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617671	NM_020877.5(DNAH2):c.554C>A (p.Ala185Glu)	DNAH2 (A185E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487012	NM_020877.5(DNAH2):c.592G>T (p.Ala198Ser)	DNAH2 (A198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554638	NM_020877.5(DNAH2):c.601C>A (p.Leu201Met)	DNAH2 (L201M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083857	NM_020877.5(DNAH2):c.682A>G (p.Met228Val)	DNAH2 (M228V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083858	NM_020877.5(DNAH2):c.689T>A (p.Met230Lys)	DNAH2 (M230K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083859	NM_020877.5(DNAH2):c.694C>T (p.Pro232Ser)	DNAH2 (P232S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997792	NM_020877.5(DNAH2):c.730C>T (p.Arg244Trp)	DNAH2 (R244W)	Single nucleotide variant (missense variant)	Primary microcephaly	GUncertain significance
Select item 3055611	NM_020877.5(DNAH2):c.741C>T (p.Thr247=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GBenign
Select item 2229777	NM_020877.5(DNAH2):c.761G>A (p.Arg254Gln)	DNAH2 (R254Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272767	NM_020877.5(DNAH2):c.767T>C (p.Ile256Thr)	DNAH2 (I256T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457108	NM_020877.5(DNAH2):c.833T>C (p.Ile278Thr)	DNAH2 (I278T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647370	NM_020877.5(DNAH2):c.890A>G (p.Lys297Arg)	DNAH2 (K297R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3053051	NM_020877.5(DNAH2):c.934T>A (p.Ser312Thr)	DNAH2 (S312T)	Single nucleotide variant (missense variant)	DNAH2-related disorder	GBenign
Select item 3033250	NM_020877.5(DNAH2):c.947C>T (p.Ala316Val)	DNAH2 (A316V)	Single nucleotide variant (missense variant)	DNAH2-related disorder	GLikely benign
Select item 3037878	NM_020877.5(DNAH2):c.948G>A (p.Ala316=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GBenign
Select item 3083873	NM_020877.5(DNAH2):c.952T>G (p.Phe318Val)	DNAH2 (F318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040117	NM_020877.5(DNAH2):c.978+4T>C	DNAH2	Single nucleotide variant (intron variant)	DNAH2-related disorder	GLikely benign
Select item 3039336	NM_020877.5(DNAH2):c.978+10C>T	DNAH2	Single nucleotide variant (intron variant)	DNAH2-related disorder	GLikely benign
Select item 2605661	NM_020877.5(DNAH2):c.994G>A (p.Ala332Thr)	DNAH2 (A332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209479	NM_020877.5(DNAH2):c.1019C>T (p.Ser340Leu)	DNAH2 (S340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997796	NM_020877.5(DNAH2):c.1033C>A (p.Pro345Thr)	DNAH2 (P345T)	Single nucleotide variant (missense variant)	Primary microcephaly	GUncertain significance
Select item 2463578	NM_020877.5(DNAH2):c.1037A>G (p.Tyr346Cys)	DNAH2 (Y346C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041431	NM_020877.5(DNAH2):c.1107C>A (p.Arg369=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GLikely benign
Select item 3055181	NM_020877.5(DNAH2):c.1126C>T (p.Pro376Ser)	DNAH2 (P376S)	Single nucleotide variant (missense variant)	DNAH2-related disorder	GLikely benign
Select item 1335244	NM_020877.5(DNAH2):c.1128C>T (p.Pro376=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035963	NM_020877.5(DNAH2):c.1171-715G>A	DNAH2	Single nucleotide variant (intron variant)	DNAH2-related disorder	GLikely benign
Select item 3083805	NM_020877.5(DNAH2):c.1177G>A (p.Asp393Asn)	DNAH2 (D393N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083807	NM_020877.5(DNAH2):c.1198C>T (p.Arg400Cys)	DNAH2 (R400C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345926	NM_020877.5(DNAH2):c.1199G>A (p.Arg400His)	DNAH2 (R482H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083808	NM_020877.5(DNAH2):c.1214A>G (p.Lys405Arg)	DNAH2 (K405R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272793	NM_020877.5(DNAH2):c.1222C>G (p.Pro408Ala)	DNAH2 (P408A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459677	NM_020877.5(DNAH2):c.1232G>T (p.Cys411Phe)	DNAH2 (C411F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466869	NM_020877.5(DNAH2):c.1234T>C (p.Phe412Leu)	DNAH2 (F412L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272796	NM_020877.5(DNAH2):c.1265G>A (p.Arg422Gln)	DNAH2 (R422Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769428	NM_020877.5(DNAH2):c.1272G>A (p.Leu424=)	DNAH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3083814	NM_020877.5(DNAH2):c.1290C>G (p.Ile430Met)	DNAH2 (I512M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083815	NM_020877.5(DNAH2):c.1308C>A (p.His436Gln)	DNAH2 (H436Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353194	NM_020877.5(DNAH2):c.1310C>T (p.Thr437Met)	DNAH2 (T519M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3083816	NM_020877.5(DNAH2):c.1325G>A (p.Arg442His)	DNAH2 (R442H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040842	NM_020877.5(DNAH2):c.1326C>T (p.Arg442=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GLikely benign
Select item 2283933	NM_020877.5(DNAH2):c.1367A>C (p.Asp456Ala)	DNAH2 (D538A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046164	NM_020877.5(DNAH2):c.1377-9C>A	DNAH2	Single nucleotide variant (intron variant)	DNAH2-related disorder	GLikely benign
Select item 2603276	NM_020877.5(DNAH2):c.1412C>G (p.Thr471Ser)	DNAH2 (T553S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043260	NM_020877.5(DNAH2):c.1470T>C (p.Leu490=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GLikely benign
Select item 3083820	NM_020877.5(DNAH2):c.1532A>G (p.Lys511Arg)	DNAH2 (K511R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342849	NM_020877.5(DNAH2):c.[1546T>C;3637G>A]	DNAH2 (Y516H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720824	NM_020877.5(DNAH2):c.1546T>C (p.Tyr516His)	DNAH2 (Y516H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2486156	NM_020877.5(DNAH2):c.1557C>G (p.Phe519Leu)	DNAH2 (F519L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716226	NM_020877.5(DNAH2):c.1632T>C (p.Tyr544=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder +1 more	GBenign/Likely benign
Select item 3083821	NM_020877.5(DNAH2):c.1652T>C (p.Val551Ala)	DNAH2 (V551A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272798	NM_020877.5(DNAH2):c.1666C>T (p.Arg556Cys)	DNAH2 (R638C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308955	NM_020877.5(DNAH2):c.1702G>T (p.Ala568Ser)	DNAH2 (A650S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463093	NM_020877.5(DNAH2):c.1739G>A (p.Ser580Asn)	DNAH2 (S580N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272792	NM_020877.5(DNAH2):c.1776T>A (p.Asp592Glu)	DNAH2 (D592E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997794	NM_020877.5(DNAH2):c.1786C>T (p.Arg596Ter)	DNAH2 (R596* +1 more)	Single nucleotide variant (nonsense)	Primary microcephaly	GUncertain significance
Select item 2375502	NM_020877.5(DNAH2):c.1873A>G (p.Lys625Glu)	DNAH2 (K707E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083822	NM_020877.5(DNAH2):c.1876G>T (p.Ala626Ser)	DNAH2 (A708S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039363	NM_020877.5(DNAH2):c.1904+123T>C	DNAH2 (L758P)	Single nucleotide variant (missense variant +1 more)	DNAH2-related disorder	GBenign
Select item 3060369	NM_020877.5(DNAH2):c.1904+146dup	DNAH2 (S766fs)	Duplication (frameshift variant +1 more)	DNAH2-related disorder	GLikely benign
Select item 3043471	NM_020877.5(DNAH2):c.1904+136C>T	DNAH2	Single nucleotide variant (synonymous variant +1 more)	DNAH2-related disorder	GLikely benign
Select item 2647371	NM_020877.5(DNAH2):c.1904+146del	DNAH2 (S766fs)	Deletion (frameshift variant +1 more)	DNAH2-related disorder +1 more	GLikely benign
Select item 3042717	NM_020877.5(DNAH2):c.1904+340dup	DNAH2 (W831fs)	Duplication (frameshift variant +1 more)	DNAH2-related disorder	GBenign
Select item 3037769	NM_020877.5(DNAH2):c.1904+345A>G	DNAH2 (Q832R)	Single nucleotide variant (missense variant +1 more)	DNAH2-related disorder	GLikely benign
Select item 3052267	NM_020877.5(DNAH2):c.1912C>T (p.Leu638=)	DNAH2	Single nucleotide variant (synonymous variant)	DNAH2-related disorder	GLikely benign
Select item 3083823	NM_020877.5(DNAH2):c.1925C>T (p.Ala642Val)	DNAH2 (A642V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251352	NM_020877.5(DNAH2):c.1981G>A (p.Val661Ile)	DNAH2 (V661I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083825	NM_020877.5(DNAH2):c.2060C>G (p.Ala687Gly)	DNAH2 (A687G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558664	NM_020877.5(DNAH2):c.2060C>A (p.Ala687Asp)	DNAH2 (A687D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480665	NM_020877.5(DNAH2):c.2066T>C (p.Leu689Pro)	DNAH2 (L689P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222300	NM_020877.5(DNAH2):c.2096A>G (p.Glu699Gly)	DNAH2 (E699G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272768	NM_020877.5(DNAH2):c.2191C>T (p.Arg731Cys)	DNAH2 (R731C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083826	NM_020877.5(DNAH2):c.2216T>A (p.Met739Lys)	DNAH2 (M739K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623841	NM_020877.5(DNAH2):c.2233A>G (p.Lys745Glu)	DNAH2 (K745E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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