26090[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 989

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1274729	NC_000017.11:g.80036451G>T	CCDC40	Single nucleotide variant	not provided	GBenign
Select item 260946	NM_017950.3(CCDC40):c.-49C>A	CCDC40	Single nucleotide variant	not specified +1 more	GBenign
Select item 260945	NM_017950.3(CCDC40):c.-36C>T	CCDC40	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 2750305	NM_017950.4(CCDC40):c.2T>G (p.Met1Arg)	CCDC40 (M1R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1526048	NM_017950.4(CCDC40):c.3G>A (p.Met1Ile)	CCDC40 (M1I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 665798	NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)	CCDC40 (P4L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2959474	NM_017950.4(CCDC40):c.12G>C (p.Pro4=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2853875	NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser)	CCDC40 (G5S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2903808	NM_017950.4(CCDC40):c.18C>T (p.Gly6=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2560188	NM_017950.4(CCDC40):c.19G>A (p.Ala7Thr)	CCDC40 (A7T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1636812	NM_017950.4(CCDC40):c.21G>A (p.Ala7=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454886	NM_017950.4(CCDC40):c.29+1_29+13dup	CCDC40	Duplication (splice donor variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1000019	NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly)	CCDC40 (A8G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 892050	NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly)	CCDC40 (R10G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 1478470	NM_017950.4(CCDC40):c.29+5G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1588168	NM_017950.4(CCDC40):c.29+7C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1121680	NM_017950.4(CCDC40):c.29+8G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1599499	NM_017950.4(CCDC40):c.29+11C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2033757	NM_017950.4(CCDC40):c.29+12C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1225552	NM_017950.4(CCDC40):c.29+58C>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290071	NM_017950.4(CCDC40):c.29+220C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262578	NM_017950.4(CCDC40):c.30-231A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269480	NM_017950.4(CCDC40):c.30-191G>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281104	NM_017950.4(CCDC40):c.30-80G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213195	NM_017950.4(CCDC40):c.30-57G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771589	NM_017950.4(CCDC40):c.30-7A>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525443	NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys)	CCDC40 (S11C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1400196	NM_017950.4(CCDC40):c.38C>T (p.Pro13Leu)	CCDC40 (P13L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454892	NM_017950.4(CCDC40):c.39G>A (p.Pro13=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1051395	NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys)	CCDC40 (E14K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1145787	NM_017950.4(CCDC40):c.48A>G (p.Gly16=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 226495	NM_017950.4(CCDC40):c.51G>A (p.Ser17=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 2199251	NM_017950.4(CCDC40):c.69G>A (p.Lys23=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 505068	NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly)	CCDC40 (E28G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1344606	NM_017950.4(CCDC40):c.93+2T>C	CCDC40	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2117958	NM_017950.4(CCDC40):c.93+4A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2054839	NM_017950.4(CCDC40):c.93+7T>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2808099	NM_017950.4(CCDC40):c.93+14T>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2083281	NM_017950.4(CCDC40):c.93+15G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 260981	NM_017950.4(CCDC40):c.93+18C>A	CCDC40	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2776423	NM_017950.4(CCDC40):c.93+20G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1216248	NM_017950.4(CCDC40):c.93+195del	CCDC40	Deletion (intron variant)	not provided	GLikely benign
Select item 1293859	NM_017950.4(CCDC40):c.93+215C>T	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204277	NM_017950.4(CCDC40):c.93+238G>A	CCDC40	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246382	NM_017950.4(CCDC40):c.94-200A>G	CCDC40	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2032796	NM_017950.4(CCDC40):c.94-12A>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020029	NM_017950.4(CCDC40):c.102A>G (p.Pro34=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 407760	NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly)	CCDC40 (D38G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1771249	NM_017950.4(CCDC40):c.137C>A (p.Ala46Asp)	CCDC40 (A46D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 260950	NM_017950.4(CCDC40):c.141C>T (p.Val47=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 454877	NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)	CCDC40 (G48S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 454878	NM_017950.4(CCDC40):c.147C>T (p.Ser49=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2553573	NM_017950.4(CCDC40):c.160G>A (p.Glu54Lys)	CCDC40 (E54K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2129833	NM_017950.4(CCDC40):c.163del (p.Glu55fs)	CCDC40 (E55fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2363933	NM_017950.4(CCDC40):c.166G>A (p.Val56Ile)	CCDC40 (V56I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1092416	NM_017950.4(CCDC40):c.168C>T (p.Val56=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2195078	NM_017950.4(CCDC40):c.174C>A (p.Thr58=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2481545	NM_017950.4(CCDC40):c.175C>G (p.Gln59Glu)	CCDC40 (Q59E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227110	NM_017950.4(CCDC40):c.179C>T (p.Ala60Val)	CCDC40 (A60V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 226490	NM_017950.4(CCDC40):c.180G>A (p.Ala60=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 749179	NM_017950.4(CCDC40):c.189A>C (p.Ala63=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716526	NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)	CCDC40 (E66D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 196482	NM_017950.4(CCDC40):c.200G>A (p.Gly67Glu)	CCDC40 (G67E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152403	NM_017950.4(CCDC40):c.207G>T (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 166807	NM_017950.4(CCDC40):c.207G>C (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 2893680	NM_017950.4(CCDC40):c.225A>G (p.Ala75=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1970620	NM_017950.4(CCDC40):c.229G>A (p.Val77Met)	CCDC40 (V77M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 582066	NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys)	CCDC40 (E78K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1790671	NM_017950.4(CCDC40):c.239A>T (p.Glu80Val)	CCDC40 (E80V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1661320	NM_017950.4(CCDC40):c.240A>G (p.Glu80=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 325722	NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)	CCDC40 (Y86C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 1134658	NM_017950.4(CCDC40):c.258T>C (p.Tyr86=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2996734	NM_017950.4(CCDC40):c.267T>C (p.Ala89=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2182656	NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)	CCDC40 (E92K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1514489	NM_017950.4(CCDC40):c.281A>T (p.Glu94Val)	CCDC40 (E94V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1956240	NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 888590	NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)	CCDC40 (Y97C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 931392	NM_017950.4(CCDC40):c.298del (p.Thr100fs)	CCDC40 (T100fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 1010331	NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)	CCDC40 (P103L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2154747	NM_017950.4(CCDC40):c.309G>A (p.Pro103=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1596196	NM_017950.4(CCDC40):c.315G>A (p.Gly105=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2732248	NM_017950.4(CCDC40):c.327T>C (p.Ala109=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 166808	NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)	CCDC40 (T112A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2321372	NM_017950.4(CCDC40):c.335C>T (p.Thr112Met)	CCDC40 (T112M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1718404	NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)	CCDC40 (T112K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2094059	NM_017950.4(CCDC40):c.336G>T (p.Thr112=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1152805	NM_017950.4(CCDC40):c.336G>A (p.Thr112=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1439497	NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu)	CCDC40 (P115L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2751950	NM_017950.4(CCDC40):c.345G>A (p.Pro115=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 407768	NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr)	CCDC40 (P119T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 260973	NM_017950.4(CCDC40):c.384A>G (p.Ala128=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 3227115	NM_017950.4(CCDC40):c.387C>T (p.Tyr129=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2054714	NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)	CCDC40 (S131fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic

<< First< Prev

Page of 10