MNS - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2626

<< First< Prev

Page of 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC123480933, LOC123480934 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147443	GRCh38/hg38 4q31.21(chr4:143667454-143921494)x1	FREM3, GYPE +2 more	Copy number loss	See cases	GUncertain significance
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 150416	GRCh38/hg38 4q31.21(chr4:143763458-143984618)x1	GYPE, LOC101927636 +1 more	Copy number loss	See cases	GLikely benign
Select item 150689	GRCh38/hg38 4q31.21(chr4:143823647-144112197)x3	GYPA, GYPB +3 more	Copy number gain	See cases	GLikely benign
Select item 2514572	NM_198682.3(GYPE):c.169C>G (p.Arg57Gly)	GYPE (R57G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385324	NM_198682.3(GYPE):c.169C>T (p.Arg57Cys)	GYPE (R57C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545085	NM_198682.3(GYPE):c.149T>C (p.Ile50Thr)	GYPE (I50T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516123	NM_198682.3(GYPE):c.141A>G (p.Ile47Met)	GYPE (I47M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402918	NM_198682.3(GYPE):c.38G>C (p.Gly13Ala)	GYPE (G13A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 769294	NM_198682.3(GYPE):c.38-9T>G	GYPE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769215	NM_002100.6(GYPB):c.251= (p.Ser84=)	GYPB (T58S)	Variation (missense variant +1 more)	not provided	GBenign
Select item 1297166	NM_002100.6(GYPB):c.173C>G (p.Pro58Arg)	GYPB (P32R +1 more)	Single nucleotide variant (missense variant)	BLOOD GROUP, Ss	Gassociation
Select item 2271430	NM_002100.6(GYPB):c.76G>A (p.Ala26Thr)	GYPB (A26T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 144497	GRCh38/hg38 4q31.21(chr4:144112130-144651801)x1	GYPA, HHIP +6 more	Copy number loss	See cases	GUncertain significance
Select item 2322982	NM_002099.8(GYPA):c.433C>A (p.Pro145Thr)	GYPA (P112T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488847	NM_002099.8(GYPA):c.364C>T (p.Pro122Ser)	GYPA (P109S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2604775	NM_002099.8(GYPA):c.347G>T (p.Arg116Leu)	GYPA (R83L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621490	NM_002099.8(GYPA):c.343C>A (p.Arg115Ser)	GYPA (R115S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526468	NM_002099.8(GYPA):c.251C>T (p.Ala84Val)	GYPA (A84V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 17714	NM_002099.8(GYPA):c.232G>A (p.Gly78Arg)	GYPA (G78R +2 more)	Single nucleotide variant (missense variant)	BLOOD GROUP ERIK	GPathogenic
Select item 2307984	NM_002099.8(GYPA):c.205A>G (p.Thr69Ala)	GYPA (T69A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270806	NM_002099.8(GYPA):c.169C>A (p.Pro57Thr)	GYPA (P24T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380498	NM_002099.8(GYPA):c.68C>A (p.Thr23Asn)	GYPA (T23N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814612	GRCh37/hg19 4q31.21(chr4:144498781-144837868)x1	FREM3, GYPE	Copy number loss	not provided	GUncertain significance
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688727	GRCh37/hg19 4q31.21(chr4:144737063-145858335)x1	GYPA, GYPB +2 more	Copy number loss	not provided	GUncertain significance
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic
Select item 5429	NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)	HSPB3 (R7S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 213498	NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)	FLNA, LOC107988032	Deletion (frameshift variant)	Oto-palato-digital syndrome, type II +4 more	GPathogenic
Select item 405443	NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del)	FLNA, LOC107988032 (V2638del +1 more)	Deletion (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2942370	NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)	FLNA, LOC107988032 (V2636L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GLikely pathogenic
Select item 516076	NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GBenign/Likely benign
Select item 1385334	NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro)	FLNA, LOC107988032 (R2643P +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1020536	NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His)	FLNA, LOC107988032 (R2635H +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 1391252	NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly)	FLNA, LOC107988032 (R2635G +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 213511	NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)	FLNA, LOC107988032 (R2635C +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 533563	NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile)	FLNA, LOC107988032 (S2640I +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1803247	NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu)	FLNA, LOC107988032 (P2630L +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia 1	GUncertain significance
Select item 2179546	NM_001110556.2(FLNA):c.7908C>T (p.His2636=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 208878	NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)	FLNA, LOC107988032 (E2635K +1 more)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 509524	NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1895821	NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)	FLNA, LOC107988032 (D2634Y +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 533571	NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His)	FLNA, LOC107988032 (D2634H +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 213497	NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)	LOC107988032, FLNA (G2625del +1 more)	Deletion (inframe_deletion)	Oto-palato-digital syndrome, type II +3 more	GConflicting classifications of pathogenicity
Select item 2938012	NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1376875	NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys)	FLNA, LOC107988032 (W2624C +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2936395	NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)	FLNA, LOC107988032 (W2624L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 1574618	NM_001110556.2(FLNA):c.7887G>A (p.Val2629=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +4 more	GLikely benign
Select item 2184072	NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)	FLNA, LOC107988032 (T2619R +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 197561	NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GConflicting classifications of pathogenicity
Select item 652215	NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)	LOC107988032, FLNA (E2625fs +1 more)	Deletion (frameshift variant)	Frontometaphyseal dysplasia +3 more	GPathogenic
Select item 2951884	NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)	FLNA, LOC107988032 (G2616A +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2202280	NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 964481	NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)	FLNA, LOC107988032 (K2621R +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GBenign
Select item 2947166	NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)	LOC107988032, FLNA	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 1541277	NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +3 more	GLikely benign
Select item 2009796	NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +3 more	GLikely benign
Select item 387163	NM_001110556.2(FLNA):c.7848G>C (p.Val2616=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Oto-palato-digital syndrome, type II +5 more	GLikely benign
Select item 1700827	NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala)	FLNA, LOC107988032 (V2608A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 638848	NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)	FLNA, LOC107988032 (V2616M +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 952392	NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)	FLNA, LOC107988032 (S2607G +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2182355	NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)	FLNA, LOC107988032 (L2613V +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GLikely benign
Select item 589920	NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln)	FLNA, LOC107988032 (R2604Q +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GLikely benign
Select item 1524454	NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)	FLNA, LOC107988032 (R2612W +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +5 more	GConflicting classifications of pathogenicity
Select item 705286	NM_001110556.2(FLNA):c.7824C>T (p.His2608=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 413396	NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr)	FLNA, LOC107988032 (H2608Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 465025	NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs)	FLNA, LOC107988032 (V2598fs +1 more)	Deletion (frameshift variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 1760573	NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 405458	NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)	FLNA, LOC107988032 (C2601Y +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GUncertain significance
Select item 1396399	NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr)	FLNA, LOC107988032 (P2592T +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 264331	NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)	FLNA, LOC107988032 (T2591N +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GConflicting classifications of pathogenicity
Select item 197562	NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)	FLNA, LOC107988032	Single nucleotide variant (synonymous variant)	Heterotopia, periventricular, X-linked dominant +5 more	GConflicting classifications of pathogenicity
Select item 2194112	NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)	FLNA, LOC107988032 (R2590K +1 more)	Single nucleotide variant (missense variant)	Melnick-Needles syndrome +3 more	GUncertain significance
Select item 2941662	NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)	FLNA, LOC107988032 (P2597S +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 655782	NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)	FLNA, LOC107988032 (H2587P +1 more)	Single nucleotide variant (missense variant)	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance

<< First< Prev

Page of 27