ClinVar for Gene (Select 55036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380521	NM_017950.4(CCDC40):c.2023G>C (p.Ala675Pro)	CCDC40 (A675P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366250	NM_017950.4(CCDC40):c.2005A>G (p.Lys669Glu)	CCDC40 (K669E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362702	NM_017950.4(CCDC40):c.2026C>T (p.Gln676Ter)	CCDC40 (Q676*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 3354530	NM_017950.4(CCDC40):c.1757_1759del (p.Tyr586_Arg587delinsTrp)	CCDC40	Deletion (inframe_indel)	CCDC40-related disorder	GUncertain significance
Select item 3264211	NM_017950.4(CCDC40):c.151G>A (p.Glu51Lys)	CCDC40 (E51K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264210	NM_017950.4(CCDC40):c.2444T>C (p.Val815Ala)	CCDC40 (V815A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264209	NM_017950.4(CCDC40):c.2875C>T (p.Arg959Cys)	CCDC40 (R959C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3264208	NM_017950.4(CCDC40):c.2381A>G (p.Gln794Arg)	CCDC40 (Q794R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3264207	NM_017950.4(CCDC40):c.3384C>T (p.Val1128=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3264206	NM_017950.4(CCDC40):c.2290G>A (p.Asp764Asn)	CCDC40 (D764N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3254712	NM_017950.4(CCDC40):c.2096_2104del (p.Asp699_Asp701del)	CCDC40	Deletion (inframe_deletion)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3235033	NM_017950.4(CCDC40):c.2476C>T (p.Gln826Ter)	CCDC40 (Q826*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 15	GLikely pathogenic
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 3227114	NM_017950.4(CCDC40):c.3411G>C (p.Glu1137Asp)	CCDC40 (E1137D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227113	NM_017950.4(CCDC40):c.3394A>G (p.Ile1132Val)	CCDC40 (I1132V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3227112	NM_017950.4(CCDC40):c.2680G>A (p.Ala894Thr)	CCDC40 (A894T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227111	NM_017950.4(CCDC40):c.2669G>T (p.Ser890Ile)	CCDC40 (S890I)	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 3227109	NM_017950.4(CCDC40):c.1305G>A (p.Glu435=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3227108	NM_017950.4(CCDC40):c.1058C>T (p.Ala353Val)	CCDC40 (A353V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139160	NM_017950.4(CCDC40):c.856C>A (p.Pro286Thr)	CCDC40 (P286T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139159	NM_017950.4(CCDC40):c.440G>C (p.Gly147Ala)	CCDC40 (G147A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139157	NM_017950.4(CCDC40):c.3113C>T (p.Ser1038Leu)	CCDC40 (S1038L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139156	NM_017950.4(CCDC40):c.3061G>A (p.Glu1021Lys)	CCDC40 (E1021K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139155	NM_017950.4(CCDC40):c.2947A>G (p.Arg983Gly)	CCDC40 (R983G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139154	NM_017950.4(CCDC40):c.2938A>G (p.Lys980Glu)	CCDC40 (K980E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139153	NM_017950.4(CCDC40):c.2374G>C (p.Glu792Gln)	CCDC40 (E792Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139152	NM_017950.4(CCDC40):c.2047C>T (p.His683Tyr)	CCDC40 (H683Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139151	NM_017950.4(CCDC40):c.1997A>G (p.His666Arg)	CCDC40 (H666R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3139149	NM_017950.4(CCDC40):c.1610A>G (p.Tyr537Cys)	CCDC40 (Y537C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3139148	NM_017950.4(CCDC40):c.1249G>T (p.Val417Leu)	CCDC40 (V417L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3064777	NM_017950.4(CCDC40):c.1096C>G (p.Leu366Val)	CCDC40 (L366V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3064675	NM_017950.4(CCDC40):c.2832+461_2832+462insCCA	CCDC40	Insertion (inframe_insertion +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3054171	NM_017950.4(CCDC40):c.2913C>T (p.Val971=)	CCDC40	Single nucleotide variant (synonymous variant)	CCDC40-related disorder	GLikely benign
Select item 3047418	NM_017950.4(CCDC40):c.1562+1971C>T	CCDC40	Single nucleotide variant (synonymous variant +1 more)	CCDC40-related disorder	GLikely benign
Select item 3046926	NM_017950.4(CCDC40):c.1562+1948C>T	CCDC40 (R538C)	Single nucleotide variant (missense variant +1 more)	CCDC40-related disorder	GLikely benign
Select item 3031156	NM_017950.4(CCDC40):c.856-35_856-24del	CCDC40	Deletion (intron variant)	CCDC40-related disorder	GLikely benign
Select item 3025918	NM_017950.4(CCDC40):c.1562+2025G>A	CCDC40	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025633	NM_017950.4(CCDC40):c.550T>C (p.Leu184=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3022115	NM_017950.4(CCDC40):c.1318-19T>C	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3021951	NM_017950.4(CCDC40):c.2619+16C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3020438	NM_017950.4(CCDC40):c.390T>C (p.Asp130=)	CCDC40	Single nucleotide variant (synonymous 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 3020007	NM_017950.4(CCDC40):c.939+13C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3019777	NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)	CCDC40 (L1075P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3019639	NM_017950.4(CCDC40):c.756C>T (p.Ser252=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3019455	NM_017950.4(CCDC40):c.677-4C>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3017912	NM_017950.4(CCDC40):c.1160-15dup	CCDC40	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 3013286	NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)	CCDC40 (Q1034*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 3010662	NM_017950.4(CCDC40):c.553-10C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3010487	NM_017950.4(CCDC40):c.2832+16C>T	CCDC40	Single nucleotide variant (intron 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 2992723	NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2990385	NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)	CCDC40 (T253A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2982384	NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)	CCDC40 (E238*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2973878	NM_017950.4(CCDC40):c.3022-4C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2970229	NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)	CCDC40 (T864fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2968586	NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)	CCDC40 (R1006H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2968144	NM_017950.4(CCDC40):c.2925C>G (p.Ala975=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2964886	NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2962996	NM_017950.4(CCDC40):c.2236-8C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2958383	NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)	CCDC40 (E190A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2914384	NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)	CCDC40 (I434M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2913430	NM_017950.4(CCDC40):c.1317+16G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2912749	NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2912561	NM_017950.4(CCDC40):c.939+10C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2910089	NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2909320	NM_017950.4(CCDC40):c.2832+17G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2908420	NM_017950.4(CCDC40):c.855+12T>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2906921	NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2906212	NM_017950.4(CCDC40):c.2498dup (p.Met833fs)	CCDC40 (M833fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2905136	NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln)	CCDC40 (K385Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2904662	NM_017950.4(CCDC40):c.677-1G>T	CCDC40	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
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 2903252	NM_017950.4(CCDC40):c.2449+9C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2902823	NM_017950.4(CCDC40):c.462G>A (p.Arg154=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2899360	NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2898650	NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2892466	NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2891465	NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2890480	NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)	CCDC40 (G230fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2890180	NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2886564	NM_017950.4(CCDC40):c.408T>C (p.Ala136=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2885552	NM_017950.4(CCDC40):c.1571del (p.Gln524fs)	CCDC40 (Q524fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2876457	NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)	CCDC40 (S742P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2874697	NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2862050	NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)	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 2851024	NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2843024	NM_017950.4(CCDC40):c.2740del (p.Ile914fs)	CCDC40 (I914fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2821057	NM_017950.4(CCDC40):c.1160-2A>C	CCDC40	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2817021	NM_017950.4(CCDC40):c.676+9C>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2816604	NM_017950.4(CCDC40):c.2449+15G>A	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2812473	NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)	CCDC40	Single nucleotide variant (synonymous 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 2799000	NM_017950.4(CCDC40):c.1563-16C>T	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2792289	NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign

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