9987[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	PARM1-AS1, PCAT4 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 155254	GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	ABRAXAS1, COPS4 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 59457	GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 59458	GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	COPS4, COQ2 +60 more	Copy number loss	See cases	GPathogenic
Select item 1284243	NM_031372.4(HNRNPDL):c.*22+84A>G	HNRNPDL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2905862	NM_031372.4(HNRNPDL):c.1260C>T (p.Tyr420=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2720800	NM_031372.4(HNRNPDL):c.1251C>T (p.Tyr417=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2031919	NM_031372.4(HNRNPDL):c.1248T>C (p.Asn416=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2914956	NM_031372.4(HNRNPDL):c.1239C>T (p.His413=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1396348	NM_031372.4(HNRNPDL):c.1236_1237delinsAA (p.Asn412_His413delinsLysAsn)	HNRNPDL	Indel (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 464381	NM_031372.4(HNRNPDL):c.1209T>C (p.Tyr403=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1590346	NM_031372.4(HNRNPDL):c.1203C>T (p.Ser401=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2910879	NM_031372.4(HNRNPDL):c.1198C>G (p.Gln400Glu)	HNRNPDL (Q343E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 646823	NM_031372.4(HNRNPDL):c.1193-4A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 749664	NM_031372.4(HNRNPDL):c.1193-9T>C	HNRNPDL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066506	NM_031372.4(HNRNPDL):c.1193-16T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1228006	NM_031372.4(HNRNPDL):c.1193-31_1193-28del	HNRNPDL	Deletion (intron variant)	not provided	GBenign
Select item 3022061	NM_031372.4(HNRNPDL):c.1192+18A>T	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1947219	NM_031372.4(HNRNPDL):c.1192+12_1192+13insG	HNRNPDL	Insertion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1430548	NM_031372.4(HNRNPDL):c.1190G>A (p.Ser397Asn)	HNRNPDL (S397N)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3010943	NM_031372.4(HNRNPDL):c.1182A>G (p.Ala394=)	HNRNPDL	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3366019	NM_031372.4(HNRNPDL):c.1157A>G (p.Asn386Ser)	HNRNPDL (N386S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 957137	NM_031372.4(HNRNPDL):c.1155G>T (p.Gly385=)	HNRNPDL	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1389425	NM_031372.4(HNRNPDL):c.1142G>T (p.Gly381Val)	HNRNPDL (G381V)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1491870	NM_031372.4(HNRNPDL):c.1136A>G (p.Tyr379Cys)	HNRNPDL (Y379C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 144074	NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)	HNRNPDL (D378H)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +2 more	GPathogenic/Likely pathogenic
Select item 144073	NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)	HNRNPDL (D378N)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 2997902	NM_031372.4(HNRNPDL):c.1130A>G (p.Tyr377Cys)	HNRNPDL (Y377C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 648751	NM_031372.4(HNRNPDL):c.1127G>A (p.Gly376Glu)	HNRNPDL (G376E)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 793014	NM_031372.4(HNRNPDL):c.1125C>T (p.Gly375=)	HNRNPDL	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 374518	NM_031372.4(HNRNPDL):c.1108A>C (p.Asn370His)	HNRNPDL (N370H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2104650	NM_031372.4(HNRNPDL):c.1105C>G (p.Gln369Glu)	HNRNPDL (Q369E)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 704526	NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)	HNRNPDL (G366A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GConflicting classifications of pathogenicity
Select item 2874505	NM_031372.4(HNRNPDL):c.1094A>G (p.Tyr365Cys)	HNRNPDL (Y365C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1565564	NM_031372.4(HNRNPDL):c.1092C>T (p.Ala364=)	HNRNPDL	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1361753	NM_031372.4(HNRNPDL):c.1090G>A (p.Ala364Thr)	HNRNPDL (A364T)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2303746	NM_031372.4(HNRNPDL):c.1085A>G (p.Asn362Ser)	HNRNPDL (N362S)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 1648948	NM_031372.4(HNRNPDL):c.1062T>C (p.Tyr354=)	HNRNPDL	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1462507	NM_031372.4(HNRNPDL):c.1049T>C (p.Phe350Ser)	HNRNPDL (F350S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2066585	NM_031372.4(HNRNPDL):c.1022-14G>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2967896	NM_031372.4(HNRNPDL):c.1022-17A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1284024	NM_031372.4(HNRNPDL):c.1022-60dup	HNRNPDL	Duplication (intron variant)	not provided	GBenign
Select item 1246478	NM_031372.4(HNRNPDL):c.1022-205A>C	HNRNPDL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572137	NM_031372.4(HNRNPDL):c.1021+16T>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GBenign
Select item 1956172	NM_031372.4(HNRNPDL):c.1021+9T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2036355	NM_031372.4(HNRNPDL):c.1021+7C>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 654247	NM_031372.4(HNRNPDL):c.1021+6A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2023497	NM_031372.4(HNRNPDL):c.1018C>A (p.Arg340=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 522993	NM_031372.4(HNRNPDL):c.1012C>T (p.Arg338Cys)	HNRNPDL (R338C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 992277	NM_031372.4(HNRNPDL):c.980_1000del (p.Ala327_Gly333del)	HNRNPDL	Deletion (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more	GUncertain significance
Select item 2104129	NM_031372.4(HNRNPDL):c.998G>A (p.Gly333Asp)	HNRNPDL (G333D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3000405	NM_031372.4(HNRNPDL):c.995G>A (p.Arg332Gln)	HNRNPDL (R332Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2132780	NM_031372.4(HNRNPDL):c.989G>C (p.Gly330Ala)	HNRNPDL (G330A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1408096	NM_031372.4(HNRNPDL):c.986C>T (p.Ala329Val)	HNRNPDL (A329V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2414889	NM_031372.4(HNRNPDL):c.985G>C (p.Ala329Pro)	HNRNPDL (A329P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2990277	NM_031372.4(HNRNPDL):c.984A>C (p.Ala328=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2733192	NM_031372.4(HNRNPDL):c.978T>G (p.Gly326=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1632890	NM_031372.4(HNRNPDL):c.969T>G (p.Gly323=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2118093	NM_031372.4(HNRNPDL):c.955CAA[2] (p.Gln321del)	HNRNPDL (Q321del)	Microsatellite (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1130452	NM_031372.4(HNRNPDL):c.963A>G (p.Gln321=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2972678	NM_031372.4(HNRNPDL):c.960A>G (p.Gln320=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 464394	NM_031372.4(HNRNPDL):c.948GCAACA[1] (p.Gln320_Gln321del)	HNRNPDL	Microsatellite (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 3257429	NM_031372.4(HNRNPDL):c.952C>T (p.Gln318Ter)	HNRNPDL (Q318*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2169460	NM_031372.4(HNRNPDL):c.939A>G (p.Val313=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2825516	NM_031372.4(HNRNPDL):c.937_938del (p.Val313fs)	HNRNPDL (V313fs)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2888721	NM_031372.4(HNRNPDL):c.924A>G (p.Ala308=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2759917	NM_031372.4(HNRNPDL):c.923C>T (p.Ala308Val)	HNRNPDL (A308V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 705546	NM_031372.4(HNRNPDL):c.915C>A (p.Ile305=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 640178	NM_031372.4(HNRNPDL):c.908G>T (p.Cys303Phe)	HNRNPDL (C303F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2704886	NM_031372.4(HNRNPDL):c.907T>G (p.Cys303Gly)	HNRNPDL (C303G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 1099480	NM_031372.4(HNRNPDL):c.907-4A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1634150	NM_031372.4(HNRNPDL):c.907-5T>A	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 464393	NM_031372.4(HNRNPDL):c.907-8del	HNRNPDL	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GBenign
Select item 2176111	NM_031372.4(HNRNPDL):c.907-15G>A	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2831459	NM_031372.4(HNRNPDL):c.907-17A>G	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2191984	NM_031372.4(HNRNPDL):c.906+19T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1948207	NM_031372.4(HNRNPDL):c.906+12T>C	HNRNPDL	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 3004955	NM_031372.4(HNRNPDL):c.899C>T (p.Ser300Phe)	HNRNPDL (S300F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2156080	NM_031372.4(HNRNPDL):c.885C>T (p.Tyr295=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 1429048	NM_031372.4(HNRNPDL):c.882A>G (p.Arg294=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 533023	NM_031372.4(HNRNPDL):c.874G>A (p.Glu292Lys)	HNRNPDL (E292K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2066923	NM_031372.4(HNRNPDL):c.868T>C (p.Leu290=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2270660	NM_031372.4(HNRNPDL):c.857C>T (p.Pro286Leu)	HNRNPDL (P286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2825256	NM_031372.4(HNRNPDL):c.855G>A (p.Glu285=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 2844258	NM_031372.4(HNRNPDL):c.852_854del (p.Glu285del)	HNRNPDL (E285del)	Deletion (inframe_deletion +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance
Select item 2894056	NM_031372.4(HNRNPDL):c.852A>G (p.Glu284=)	HNRNPDL	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GLikely benign
Select item 664507	NM_031372.4(HNRNPDL):c.848A>G (p.Asp283Gly)	HNRNPDL (D283G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1G	GUncertain significance

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