19368[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 149918	GRCh38/hg38 16q22.1-22.2(chr16:70775377-71086235)x1	HYDIN, LOC121587554 +9 more	Copy number loss	See cases	GLikely benign
Select item 3025468	NM_001270974.2(HYDIN):c.15209G>A (p.Arg5070Gln)	HYDIN (R5070Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032607	NM_001270974.2(HYDIN):c.15192C>T (p.Arg5064=)	HYDIN	Single nucleotide variant (synonymous variant)	HYDIN-related disorder	GLikely benign
Select item 3037169	NM_001270974.2(HYDIN):c.15146T>C (p.Met5049Thr)	HYDIN (M5049T)	Single nucleotide variant (missense variant)	HYDIN-related disorder	GLikely benign
Select item 3044628	NM_001270974.2(HYDIN):c.15102C>T (p.Ala5034=)	HYDIN	Single nucleotide variant (synonymous variant)	HYDIN-related disorder	GLikely benign
Select item 1031947	NM_001270974.2(HYDIN):c.15092C>T (p.Ser5031Leu)	HYDIN (S5031L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027471	NM_001270974.2(HYDIN):c.15037_15048delinsGATGATATA (p.Tyr5013_Pro5016delinsAspAspIle)	HYDIN	Indel (inframe_indel)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2235825	NM_001270974.2(HYDIN):c.14932G>A (p.Gly4978Arg)	HYDIN (G4978R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038780	NM_001270974.2(HYDIN):c.14886C>T (p.Thr4962=)	HYDIN	Single nucleotide variant (synonymous variant)	HYDIN-related disorder	GLikely benign
Select item 2646688	NM_001270974.2(HYDIN):c.14884-4dup	HYDIN	Duplication (intron variant)	not provided	GLikely benign
Select item 445775	NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp)	HYDIN (R4953W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 870815	NM_001270974.2(HYDIN):c.14742C>G (p.Tyr4914Ter)	HYDIN (Y4914*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1031946	NM_001270974.2(HYDIN):c.14658+5G>A	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2646689	NM_001270974.2(HYDIN):c.14623C>G (p.Leu4875Val)	HYDIN (L4875V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646690	NM_001270974.2(HYDIN):c.14619C>T (p.Ile4873=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646691	NM_001270974.2(HYDIN):c.14613C>T (p.Pro4871=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2212716	NM_001270974.2(HYDIN):c.14504T>A (p.Ile4835Asn)	HYDIN (I4835N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 146911	GRCh38/hg38 16q22.2(chr16:70826583-71162574)x1	HYDIN, LOC121587554 +5 more	Copy number loss	See cases	GBenign
Select item 2244146	NM_001270974.2(HYDIN):c.14186A>G (p.Lys4729Arg)	HYDIN (K4729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027493	NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)	HYDIN (Y4719*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2646692	NM_001270974.2(HYDIN):c.13988C>T (p.Pro4663Leu)	HYDIN (P4663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646693	NM_001270974.2(HYDIN):c.13938G>A (p.Thr4646=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646694	NM_001270974.2(HYDIN):c.13924C>A (p.Arg4642Ser)	HYDIN (R4642S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685268	NM_001270974.2(HYDIN):c.13900-73A>G	HYDIN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2646695	NM_001270974.2(HYDIN):c.13794G>A (p.Val4598=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027487	NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)	HYDIN (P4570fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027475	NM_001270974.2(HYDIN):c.13680-3A>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2646696	NM_001270974.2(HYDIN):c.13679+6G>C	HYDIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646697	NM_001270974.2(HYDIN):c.13614C>G (p.Pro4538=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671702	NM_001270974.2(HYDIN):c.13603C>T (p.Pro4535Ser)	HYDIN (P4535S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3341551	NM_001270974.2(HYDIN):c.13479G>A (p.Pro4493=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3024950	NM_001270974.2(HYDIN):c.13435C>A (p.Leu4479Met)	HYDIN (L4479M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2584824	NM_001270974.2(HYDIN):c.13402-2A>G	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1675631	NM_001270974.2(HYDIN):c.13242+8_13242+11del	HYDIN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2646698	NM_001270974.2(HYDIN):c.13043+7_13043+10dup	HYDIN	Duplication (intron variant)	not provided	GLikely benign
Select item 2646699	NM_001270974.2(HYDIN):c.12900C>T (p.Cys4300=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328267	NM_001270974.2(HYDIN):c.12899G>C (p.Cys4300Ser)	HYDIN (C4300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422647	NM_001270974.2(HYDIN):c.12846_12847del (p.Leu4283fs)	HYDIN (L4283fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2581928	NM_001270974.2(HYDIN):c.12811G>A (p.Ala4271Thr)	HYDIN (A4271T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336671	NM_001270974.2(HYDIN):c.12721C>T (p.Gln4241Ter)	HYDIN (Q4241*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2646700	NM_001270974.2(HYDIN):c.12608C>T (p.Thr4203Ile)	HYDIN (T4203I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545549	NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu)	HYDIN (K4196E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 869381	NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs)	HYDIN (P4177fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 2442393	NM_001270974.2(HYDIN):c.12444-1G>A	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 221524	GRCh38/hg38 16q22.2(chr16:70855202-71067341)x1	HYDIN, LOC121587554 +3 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2646701	NM_001270974.2(HYDIN):c.12360C>T (p.Phe4120=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265704	NM_001270974.2(HYDIN):c.12360C>A (p.Phe4120Leu)	HYDIN (F4120L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646702	NM_001270974.2(HYDIN):c.12333G>A (p.Lys4111=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982077	NM_001270974.2(HYDIN):c.12327T>C (p.Ile4109=)	HYDIN	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3065773	NM_001270974.2(HYDIN):c.12270C>G (p.His4090Gln)	HYDIN (H4090Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2646703	NM_001270974.2(HYDIN):c.12249C>T (p.Leu4083=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027484	NM_001270974.2(HYDIN):c.12144dup (p.Thr4049fs)	HYDIN (T4049fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2374702	NM_001270974.2(HYDIN):c.12133G>A (p.Val4045Met)	HYDIN (V4045M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982078	NM_001270974.2(HYDIN):c.12129+60G>A	HYDIN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1878992	NM_001270974.2(HYDIN):c.12121A>G (p.Lys4041Glu)	HYDIN (K4041E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255576	NM_001270974.2(HYDIN):c.12109C>T (p.His4037Tyr)	HYDIN (H4037Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671703	NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)	HYDIN (A4026T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2237693	NM_001270974.2(HYDIN):c.12053T>A (p.Ile4018Asn)	HYDIN (I4018N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257650	NM_001270974.2(HYDIN):c.11979G>T (p.Gly3993=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2646704	NM_001270974.2(HYDIN):c.11931G>A (p.Leu3977=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2342365	NM_001270974.2(HYDIN):c.11920G>C (p.Gly3974Arg)	HYDIN (G3974R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363898	NM_001270974.2(HYDIN):c.11894G>A (p.Arg3965His)	HYDIN (R3965H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212775	NM_001270974.2(HYDIN):c.11830C>T (p.Arg3944Trp)	HYDIN (R3944W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582946	NM_001270974.2(HYDIN):c.11811G>A (p.Pro3937=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806491	NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)	HYDIN (Q3905fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1339086	NM_001270974.2(HYDIN):c.11695G>A (p.Val3899Met)	HYDIN (V3899M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1031945	NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn)	HYDIN (D3880N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2260472	NM_001270974.2(HYDIN):c.11636T>C (p.Met3879Thr)	HYDIN (M3879T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2646705	NM_001270974.2(HYDIN):c.11632A>C (p.Thr3878Pro)	HYDIN (T3878P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217041	NM_001270974.2(HYDIN):c.11602A>G (p.Thr3868Ala)	HYDIN (T3868A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646706	NM_001270974.2(HYDIN):c.11494C>T (p.Arg3832Cys)	HYDIN (R3832C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2216356	NM_001270974.2(HYDIN):c.11476G>C (p.Asp3826His)	HYDIN (D3826H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646707	NM_001270974.2(HYDIN):c.11475C>T (p.Phe3825=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1210042	NM_001270974.2(HYDIN):c.11472-2A>G	HYDIN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2646708	NM_001270974.2(HYDIN):c.11463A>C (p.Arg3821=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050700	NM_001270974.2(HYDIN):c.11431C>T (p.Arg3811Cys)	HYDIN (R3811C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646709	NM_001270974.2(HYDIN):c.11373G>A (p.Gln3791=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646710	NM_001270974.2(HYDIN):c.11328G>A (p.Pro3776=)	HYDIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025976	NM_001270974.2(HYDIN):c.11321C>T (p.Thr3774Met)	HYDIN (T3774M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646711	NM_001270974.2(HYDIN):c.11306G>A (p.Arg3769Gln)	HYDIN (R3769Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 932110	NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs)	HYDIN (K3768fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2237127	NM_001270974.2(HYDIN):c.11295C>G (p.Phe3765Leu)	HYDIN (F3765L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2646712	NM_001270974.2(HYDIN):c.11173C>T (p.Arg3725Trp)	HYDIN (R3725W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 691975	NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)	HYDIN (R3683W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2499828	NM_001270974.2(HYDIN):c.10973T>G (p.Phe3658Cys)	HYDIN (F3658C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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