LOC126859961[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2726919	NM_001277115.2(DNAH11):c.2926A>G (p.Met976Val)	DNAH11, LOC126859961 (M976V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1797825	NM_001277115.2(DNAH11):c.2931dup (p.Cys978fs)	DNAH11, LOC126859961 (C978fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 359619	NM_001277115.2(DNAH11):c.2932T>C (p.Cys978Arg)	DNAH11, LOC126859961 (C978R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2735591	NM_001277115.2(DNAH11):c.2933G>A (p.Cys978Tyr)	DNAH11, LOC126859961 (C978Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2919354	NM_001277115.2(DNAH11):c.2936A>G (p.Asn979Ser)	DNAH11, LOC126859961 (N979S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1112650	NM_001277115.2(DNAH11):c.2943T>C (p.Phe981=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2325373	NM_001277115.2(DNAH11):c.2947A>C (p.Met983Leu)	DNAH11, LOC126859961 (M983L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3234932	NM_001277115.2(DNAH11):c.2956C>T (p.Gln986Ter)	DNAH11, LOC126859961 (Q986*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2731861	NM_001277115.2(DNAH11):c.2957A>G (p.Gln986Arg)	DNAH11, LOC126859961 (Q986R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2824720	NM_001277115.2(DNAH11):c.2964C>T (p.Asn988=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1798212	NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter)	DNAH11, LOC126859961 (R989*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 453287	NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)	LOC126859961, DNAH11 (R989Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 3015276	NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)	DNAH11, LOC126859961 (I990L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2146688	NM_001277115.2(DNAH11):c.2973A>G (p.Ala991=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 847513	NM_001277115.2(DNAH11):c.2974del (p.Thr992fs)	LOC126859961, DNAH11 (T992fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1798316	NM_001277115.2(DNAH11):c.2974A>G (p.Thr992Ala)	DNAH11, LOC126859961 (T992A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1798324	NM_001277115.2(DNAH11):c.2975C>T (p.Thr992Ile)	DNAH11, LOC126859961 (T992I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2849586	NM_001277115.2(DNAH11):c.2982G>A (p.Leu994=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1396562	NM_001277115.2(DNAH11):c.2984A>C (p.Glu995Ala)	DNAH11, LOC126859961 (E995A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 410857	NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)	DNAH11, LOC126859961 (N998S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2723798	NM_001277115.2(DNAH11):c.2997T>C (p.Tyr999=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2761863	NM_001277115.2(DNAH11):c.2998C>T (p.Gln1000Ter)	DNAH11, LOC126859961 (Q1000*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2751200	NM_001277115.2(DNAH11):c.3000+1G>T	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1477720	NM_001277115.2(DNAH11):c.3000+3A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 858733	NM_001277115.2(DNAH11):c.3000+4T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1663455	NM_001277115.2(DNAH11):c.3000+13T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2783075	NM_001277115.2(DNAH11):c.3000+16_3000+18del	LOC126859961, DNAH11	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2821365	NM_001277115.2(DNAH11):c.3000+20_3000+24dup	DNAH11, LOC126859961	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2788939	NM_001277115.2(DNAH11):c.3000+19G>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1610374	NM_001277115.2(DNAH11):c.3000+20G>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1231279	NM_001277115.2(DNAH11):c.3000+64A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272593	NM_001277115.2(DNAH11):c.3000+81T>C	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277627	NM_001277115.2(DNAH11):c.3001-213_3001-211del	DNAH11, LOC126859961	Deletion (intron variant)	not provided	GBenign
Select item 2708304	NM_001277115.2(DNAH11):c.3001-17G>A	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2887226	NM_001277115.2(DNAH11):c.3001-12C>T	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1643853	NM_001277115.2(DNAH11):c.3001-11C>T	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 698460	NM_001277115.2(DNAH11):c.3001-7C>T	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 1798708	NM_001277115.2(DNAH11):c.3002A>G (p.Asn1001Ser)	DNAH11, LOC126859961 (N1001S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2884774	NM_001277115.2(DNAH11):c.3007A>G (p.Met1003Val)	DNAH11, LOC126859961 (M1003V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2841912	NM_001277115.2(DNAH11):c.3008T>C (p.Met1003Thr)	DNAH11, LOC126859961 (M1003T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2831440	NM_001277115.2(DNAH11):c.3008T>A (p.Met1003Lys)	DNAH11, LOC126859961 (M1003K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1452056	NM_001277115.2(DNAH11):c.3020T>G (p.Leu1007Ter)	DNAH11, LOC126859961 (L1007*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2987128	NM_001277115.2(DNAH11):c.3023G>C (p.Gly1008Ala)	DNAH11, LOC126859961 (G1008A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2917665	NM_001277115.2(DNAH11):c.3025C>T (p.Leu1009=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1798958	NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)	DNAH11, LOC126859961 (L1009V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2727086	NM_001277115.2(DNAH11):c.3027G>A (p.Leu1009=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2716098	NM_001277115.2(DNAH11):c.3036C>A (p.Val1012=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2181543	NM_001277115.2(DNAH11):c.3036C>T (p.Val1012=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3003705	NM_001277115.2(DNAH11):c.3037A>G (p.Arg1013Gly)	DNAH11, LOC126859961 (R1013G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2500287	NM_001277115.2(DNAH11):c.3040C>T (p.Gln1014Ter)	DNAH11, LOC126859961 (Q1014*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
Select item 854124	NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu)	DNAH11, LOC126859961 (Q1014E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 238905	NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp)	DNAH11, LOC126859961 (E1015D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2911967	NM_001277115.2(DNAH11):c.3046A>T (p.Ile1016Phe)	DNAH11, LOC126859961 (I1016F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2885576	NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr)	DNAH11, LOC126859961 (I1016T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1614729	NM_001277115.2(DNAH11):c.3048C>T (p.Ile1016=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2983617	NM_001277115.2(DNAH11):c.3049A>T (p.Met1017Leu)	DNAH11, LOC126859961 (M1017L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 939279	NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)	DNAH11, LOC126859961 (M1017R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2861751	NM_001277115.2(DNAH11):c.3054C>T (p.Asn1018=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1407504	NM_001277115.2(DNAH11):c.3058G>C (p.Val1020Leu)	DNAH11, LOC126859961 (V1020L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 178725	NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)	DNAH11, LOC126859961 (V1023A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 858062	NM_001277115.2(DNAH11):c.3074A>G (p.Asn1025Ser)	DNAH11, LOC126859961 (N1025S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2078162	NM_001277115.2(DNAH11):c.3083T>C (p.Leu1028Ser)	DNAH11, LOC126859961 (L1028S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2961309	NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=)	LOC126859961, DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 647787	NM_001277115.2(DNAH11):c.3092G>C (p.Arg1031Thr)	DNAH11, LOC126859961 (R1031T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 650243	NM_001277115.2(DNAH11):c.3095A>G (p.Asn1032Ser)	DNAH11, LOC126859961 (N1032S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2857984	NM_001277115.2(DNAH11):c.3096C>T (p.Asn1032=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2801067	NM_001277115.2(DNAH11):c.3097A>G (p.Thr1033Ala)	DNAH11, LOC126859961 (T1033A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 221197	NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 651319	NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)	DNAH11, LOC126859961 (H1037D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1727759	NM_001277115.2(DNAH11):c.3112_3113inv (p.Thr1038Val)	DNAH11, LOC126859961 (T1038V)	Inversion (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 163100	NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)	DNAH11, LOC126859961 (T1038A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 2861706	NM_001277115.2(DNAH11):c.3114T>C (p.Thr1038=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1626312	NM_001277115.2(DNAH11):c.3117C>T (p.Tyr1039=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 939683	NM_001277115.2(DNAH11):c.3117C>G (p.Tyr1039Ter)	LOC126859961, DNAH11 (Y1039*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 238906	NM_001277115.2(DNAH11):c.3122G>A (p.Trp1041Ter)	DNAH11, LOC126859961 (W1041*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2097495	NM_001277115.2(DNAH11):c.3126G>C (p.Val1042=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2839409	NM_001277115.2(DNAH11):c.3128A>G (p.Asp1043Gly)	DNAH11, LOC126859961 (D1043G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 620379	NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)	LOC126859961, DNAH11 (R1045*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +2 more	GPathogenic/Likely pathogenic
Select item 2958388	NM_001277115.2(DNAH11):c.3134G>T (p.Arg1045Leu)	DNAH11, LOC126859961 (R1045L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 571725	NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)	DNAH11, LOC126859961 (R1045Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1042484	NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)	DNAH11, LOC126859961 (E1047K)	Single nucleotide variant (missense variant)	DNAH11-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1728099	NM_001277115.2(DNAH11):c.3141G>C (p.Glu1047Asp)	DNAH11, LOC126859961 (E1047D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1390472	NM_001277115.2(DNAH11):c.3143T>C (p.Phe1048Ser)	DNAH11, LOC126859961 (F1048S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2757583	NM_001277115.2(DNAH11):c.3150G>A (p.Lys1050=)	DNAH11, LOC126859961	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2828454	NM_001277115.2(DNAH11):c.3151C>T (p.His1051Tyr)	DNAH11, LOC126859961 (H1051Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2738382	NM_001277115.2(DNAH11):c.3152A>G (p.His1051Arg)	DNAH11, LOC126859961 (H1051R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign

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