ClinVar for Gene (Select 8481) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370374	GRCh38/hg38 Xp22.2(chrX:13719233-13884628)x2	GPM6B, LOC126863212 +5 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370303	NM_003611.3(OFD1):c.825_826AG[3] (p.Ile277fs)	OFD1 (I137fs +1 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3368968	NM_003611.3(OFD1):c.641A>T (p.Glu214Val)	OFD1 (E214V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368147	NM_003611.3(OFD1):c.1513C>G (p.Gln505Glu)	OFD1 (Q365E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366644	NM_003611.3(OFD1):c.312+13C>A	OFD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3365291	NM_003611.3(OFD1):c.214G>C (p.Gly72Arg)	OFD1 (G72R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365076	NM_003611.3(OFD1):c.115C>G (p.Gln39Glu)	OFD1 (Q39E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364398	NM_003611.3(OFD1):c.2105C>T (p.Pro702Leu)	OFD1 (P562L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363967	NM_003611.3(OFD1):c.249A>C (p.Gln83His)	OFD1 (Q83H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361550	NM_003611.3(OFD1):c.580G>A (p.Glu194Lys)	OFD1 (E194K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360493	NM_003611.3(OFD1):c.2207C>T (p.Ser736Phe)	OFD1 (S596F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359289	NM_003611.3(OFD1):c.217G>C (p.Ala73Pro)	OFD1 (A73P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3355623	NM_003611.3(OFD1):c.935+691A>G	OFD1	Single nucleotide variant (intron variant)	OFD1-related disorder	GLikely benign
Select item 3350192	NM_003611.3(OFD1):c.607T>G (p.Tyr203Asp)	OFD1 (Y203D +1 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GUncertain significance
Select item 3346078	NM_003611.3(OFD1):c.136C>T (p.His46Tyr)	OFD1 (H46Y)	Single nucleotide variant (missense variant +1 more)	OFD1-related disorder	GUncertain significance
Select item 3344392	NM_003611.3(OFD1):c.2163A>T (p.Ala721=)	OFD1	Single nucleotide variant (synonymous variant)	OFD1-related disorder	GLikely benign
Select item 3342903	NM_003611.3(OFD1):c.332del (p.Leu111fs)	OFD1 (L111fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3342510	NM_003611.3(OFD1):c.979G>A (p.Ala327Thr)	OFD1 (A187T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339252	NM_003611.3(OFD1):c.2097dup (p.Glu700Ter)	OFD1 (E560* +2 more)	Duplication (nonsense)	Orofaciodigital syndrome I	GPathogenic
Select item 3338817	NM_003611.3(OFD1):c.274T>C (p.Ser92Pro)	OFD1 (S92P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3337419	NM_003611.3(OFD1):c.2990T>C (p.Val997Ala)	OFD1 (V857A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337418	NM_003611.3(OFD1):c.2537C>T (p.Ala846Val)	OFD1 (A706V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337417	NM_003611.3(OFD1):c.517+1G>A	OFD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3302191	NM_003611.3(OFD1):c.964A>G (p.Lys322Glu)	OFD1 (K322E +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302190	NM_003611.3(OFD1):c.2402A>G (p.Gln801Arg)	OFD1 (Q661R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3302189	NM_003611.3(OFD1):c.2193C>T (p.Ser731=)	OFD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3256647	NM_003611.3(OFD1):c.1513C>T (p.Gln505Ter)	OFD1 (Q365* +2 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3252326	NM_001011658.4(TRAPPC2):c.127C>T (p.His43Tyr)	OFD1, TRAPPC2 (H43Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246785	NC_000023.10:g.(?_12885698)_(13787227_?)dup	ATXN3L, EGFL6 +8 more	Duplication	not provided	GUncertain significance
Select item 3246773	NC_000023.10:g.(?_11308472)_(13765072_?)dup	AMELX, ARHGAP6 +13 more	Duplication	not provided	GUncertain significance
Select item 3244138	NC_000023.10:g.(?_13732526)_(13787227_?)dup	OFD1, TRAPPC2	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239250	NM_003611.3(OFD1):c.1512G>A (p.Arg504=)	OFD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236779	NM_003611.3(OFD1):c.1570del (p.Gln524fs)	OFD1 (Q384fs +2 more)	Deletion (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3235966	NM_003611.3(OFD1):c.2489-9C>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GUncertain significance
Select item 3234789	NM_003611.3(OFD1):c.828+4G>T	OFD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3234064	NM_003611.3(OFD1):c.1802dup (p.Arg602fs)	OFD1 (R462fs +2 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 3223479	NM_003611.3(OFD1):c.2813A>T (p.Asn938Ile)	OFD1 (N798I +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3223478	NM_003611.3(OFD1):c.2742A>T (p.Lys914Asn)	OFD1 (K774N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3223477	NM_003611.3(OFD1):c.1056-664C>G	OFD1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3204072	NM_003611.3(OFD1):c.2595C>A (p.His865Gln)	OFD1 (H725Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3204071	NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu)	OFD1 (D728E +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3204069	NM_003611.3(OFD1):c.2026C>G (p.Leu676Val)	OFD1 (L676V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3204068	NM_003611.3(OFD1):c.1823T>C (p.Ile608Thr)	OFD1 (I468T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3076163	NM_003611.3(OFD1):c.829-288_829-287del	OFD1	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3076162	NM_003611.3(OFD1):c.828+460A>C	OFD1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3076161	NM_003611.3(OFD1):c.828+364A>G	OFD1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3076160	NM_003611.3(OFD1):c.828+1031T>A	OFD1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3076159	NM_003611.3(OFD1):c.654+27_654+28del	OFD1	Deletion (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3065251	NM_003611.3(OFD1):c.614_617del (p.Arg205fs)	OFD1 (R205fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3064749	NM_003611.3(OFD1):c.2997-3T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3061138	NM_003611.3(OFD1):c.2239G>C (p.Glu747Gln)	OFD1 (E607Q +2 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GUncertain significance
Select item 3053928	NM_003611.3(OFD1):c.935+688G>A	OFD1	Single nucleotide variant (intron variant)	OFD1-related disorder	GLikely benign
Select item 3046869	NM_003611.3(OFD1):c.934T>C (p.Leu312=)	OFD1	Single nucleotide variant (synonymous variant)	OFD1-related disorder	GLikely benign
Select item 3031535	NM_003611.3(OFD1):c.442G>C (p.Ala148Pro)	OFD1 (A148P +1 more)	Single nucleotide variant (missense variant)	OFD1-related disorder	GLikely pathogenic
Select item 3028572	NM_003611.3(OFD1):c.2765T>C (p.Ile922Thr)	OFD1 (I782T +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028571	NM_003611.3(OFD1):c.2692C>A (p.Gln898Lys)	OFD1 (Q758K +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028570	NM_003611.3(OFD1):c.1723A>C (p.Asn575His)	OFD1 (N435H +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028569	NM_003611.3(OFD1):c.1215A>C (p.Glu405Asp)	OFD1 (E265D +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028568	NM_003611.3(OFD1):c.1080C>T (p.Asp360=)	OFD1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028566	NM_003611.3(OFD1):c.408A>G (p.Gln136=)	OFD1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3024753	NM_003611.3(OFD1):c.1248G>C (p.Gln416His)	OFD1 (Q276H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007415	NM_001011658.4(TRAPPC2):c.324+16T>C	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997193	NM_001011658.4(TRAPPC2):c.51T>C (p.Val17=)	OFD1, TRAPPC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988154	NM_001011658.4(TRAPPC2):c.324+15A>G	OFD1, TRAPPC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2953985	NM_003611.3(OFD1):c.1141C>A (p.His381Asn)	OFD1 (H241N +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2953775	NM_003611.3(OFD1):c.2811A>G (p.Glu937=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2953533	NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)	OFD1 (E141D +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2952786	NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)	OFD1 (I542M +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2952218	NM_003611.3(OFD1):c.198del (p.Ser67fs)	OFD1 (S67fs)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 2952017	NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)	OFD1 (T990R +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 2951721	NM_003611.3(OFD1):c.1129+20T>C	OFD1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2951010	NM_003611.3(OFD1):c.2387+12G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2950974	NM_003611.3(OFD1):c.2655G>A (p.Gln885=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +2 more	GLikely benign
Select item 2950180	NM_003611.3(OFD1):c.1543-10A>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2950177	NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)	OFD1 (K205Q +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949754	NM_003611.3(OFD1):c.2600-6_2600-3dup	OFD1	Duplication (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2949663	NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)	OFD1 (K102E)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949268	NM_003611.3(OFD1):c.382-10_382-6del	OFD1	Deletion (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949267	NM_003611.3(OFD1):c.389G>T (p.Gly130Val)	OFD1 (G130V)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2949225	NM_003611.3(OFD1):c.1655-4G>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2948548	NM_003611.3(OFD1):c.935+1G>C	OFD1	Single nucleotide variant (splice donor variant)	Orofaciodigital syndrome I +1 more	GLikely pathogenic
Select item 2947652	NM_003611.3(OFD1):c.1130-21A>T	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2947373	NM_003611.3(OFD1):c.655-6T>A	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946744	NM_003611.3(OFD1):c.571A>G (p.Ile191Val)	OFD1 (I191V +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946649	NM_003611.3(OFD1):c.822C>G (p.His274Gln)	OFD1 (H134Q +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946640	NM_003611.3(OFD1):c.12+18T>A	LOC126863212, OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2946507	NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)	OFD1 (R843Q +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2946030	NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)	OFD1 (I742T +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2945700	NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)	OFD1 (E503* +2 more)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2944692	NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)	OFD1 (S743C +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2944691	NM_003611.3(OFD1):c.495G>T (p.Ser165=)	OFD1	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome I +1 more	GLikely benign
Select item 2944546	NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)	OFD1 (L706F +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2944496	NM_003611.3(OFD1):c.2689dup (p.Arg897fs)	OFD1 (R757fs +2 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I +1 more	GPathogenic
Select item 2944190	NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)	OFD1 (S90A)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2943242	NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)	OFD1 (G99D)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2942503	NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)	OFD1 (I353V +2 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome I +1 more	GUncertain significance
Select item 2942258	NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs)	OFD1 (T511fs +2 more)	Deletion (frameshift variant)	Orofaciodigital syndrome I +1 more	GPathogenic

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