30207[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 3051373	NM_004815.4(ARHGAP29):c.*1G>C	ARHGAP29	Single nucleotide variant (3 prime UTR variant)	ARHGAP29-related disorder	GLikely benign
Select item 2605117	NM_004815.4(ARHGAP29):c.3761A>G (p.Glu1254Gly)	ARHGAP29 (E1245G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031800	NM_004815.4(ARHGAP29):c.3759C>T (p.Leu1253=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 3311531	NM_004815.4(ARHGAP29):c.3744A>T (p.Gln1248His)	ARHGAP29 (Q1184H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591349	NM_004815.4(ARHGAP29):c.3712A>G (p.Met1238Val)	ARHGAP29 (M1229V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313293	NM_004815.4(ARHGAP29):c.3701A>G (p.Asp1234Gly)	ARHGAP29 (D1170G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291047	NM_004815.4(ARHGAP29):c.3688C>T (p.Leu1230Phe)	ARHGAP29 (L1221F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537163	NM_004815.4(ARHGAP29):c.3635C>A (p.Ala1212Glu)	ARHGAP29 (A1203E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128721	NM_004815.4(ARHGAP29):c.3587A>T (p.His1196Leu)	ARHGAP29 (H1187L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311511	NM_004815.4(ARHGAP29):c.3586C>G (p.His1196Asp)	ARHGAP29 (H1196D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733874	NM_004815.4(ARHGAP29):c.3366T>A (p.Thr1122=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775569	NM_004815.4(ARHGAP29):c.3345G>A (p.Gly1115=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791803	NM_004815.4(ARHGAP29):c.3282T>C (p.Thr1094=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382576	NM_004815.4(ARHGAP29):c.3235A>G (p.Lys1079Glu)	ARHGAP29 (K1079E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128720	NM_004815.4(ARHGAP29):c.3224A>C (p.Gln1075Pro)	ARHGAP29 (Q1011P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402385	NM_004815.4(ARHGAP29):c.3218A>G (p.Asp1073Gly)	ARHGAP29 (D1064G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300542	NM_004815.4(ARHGAP29):c.3212G>T (p.Gly1071Val)	ARHGAP29 (G1071V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314896	NM_004815.4(ARHGAP29):c.3197G>T (p.Cys1066Phe)	ARHGAP29 (C1057F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218655	NM_004815.4(ARHGAP29):c.3181G>A (p.Ala1061Thr)	ARHGAP29 (A1061T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349075	NM_004815.4(ARHGAP29):c.3070A>G (p.Arg1024Gly)	ARHGAP29 (R1015G +2 more)	Single nucleotide variant (missense variant)	ARHGAP29-related disorder	GUncertain significance
Select item 2227033	NM_004815.4(ARHGAP29):c.3010A>G (p.Asn1004Asp)	ARHGAP29 (N1004D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510472	NM_004815.4(ARHGAP29):c.3007A>G (p.Thr1003Ala)	ARHGAP29 (T1003A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128719	NM_004815.4(ARHGAP29):c.2971A>G (p.Thr991Ala)	ARHGAP29 (T927A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780083	NM_004815.4(ARHGAP29):c.2905+8G>A	ARHGAP29	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 718420	NM_004815.4(ARHGAP29):c.2877G>A (p.Ala959=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2396246	NM_004815.4(ARHGAP29):c.2876C>T (p.Ala959Val)	ARHGAP29 (A895V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045719	NM_004815.4(ARHGAP29):c.2864G>A (p.Arg955His)	ARHGAP29 (R891H +2 more)	Single nucleotide variant (missense variant)	ARHGAP29-related disorder	GLikely benign
Select item 3045862	NM_004815.4(ARHGAP29):c.2844A>C (p.Thr948=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 2463597	NM_004815.4(ARHGAP29):c.2804A>G (p.His935Arg)	ARHGAP29 (H926R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632414	NM_004815.4(ARHGAP29):c.2796+5G>C	ARHGAP29	Single nucleotide variant (intron variant)	ARHGAP29-related disorder	GUncertain significance
Select item 3311560	NM_004815.4(ARHGAP29):c.2773T>G (p.Ser925Ala)	ARHGAP29 (S861A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257638	NM_004815.4(ARHGAP29):c.2726A>C (p.Lys909Thr)	ARHGAP29 (K845T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548172	NM_004815.4(ARHGAP29):c.2705T>C (p.Val902Ala)	ARHGAP29 (V838A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364193	NM_004815.4(ARHGAP29):c.2623G>A (p.Val875Ile)	ARHGAP29 (V811I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128718	NM_004815.4(ARHGAP29):c.2620T>A (p.Leu874Met)	ARHGAP29 (L865M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306188	NM_004815.4(ARHGAP29):c.2576C>T (p.Pro859Leu)	ARHGAP29 (P795L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128717	NM_004815.4(ARHGAP29):c.2549T>C (p.Leu850Pro)	ARHGAP29 (L850P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727822	NM_004815.4(ARHGAP29):c.2524T>C (p.Leu842=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039291	NM_004815.4(ARHGAP29):c.2514C>T (p.Asn838=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 2636567	NM_004815.4(ARHGAP29):c.2481-1G>A	ARHGAP29	Single nucleotide variant (splice acceptor variant)	ARHGAP29-related disorder	GLikely pathogenic
Select item 3128716	NM_004815.4(ARHGAP29):c.2434G>A (p.Ala812Thr)	ARHGAP29 (A748T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485283	NM_004815.4(ARHGAP29):c.2398C>A (p.Leu800Ile)	ARHGAP29 (L791I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267641	NM_004815.4(ARHGAP29):c.2395A>C (p.Ile799Leu)	ARHGAP29 (I735L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779297	NM_004815.4(ARHGAP29):c.2393G>A (p.Arg798Gln)	ARHGAP29 (R734Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3311552	NM_004815.4(ARHGAP29):c.2375T>C (p.Met792Thr)	ARHGAP29 (M728T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3311493	NM_004815.4(ARHGAP29):c.2318T>G (p.Val773Gly)	ARHGAP29 (V773G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128715	NM_004815.4(ARHGAP29):c.2315A>T (p.His772Leu)	ARHGAP29 (H763L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375318	NM_004815.4(ARHGAP29):c.2273G>T (p.Arg758Leu)	ARHGAP29 (R758L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300541	NM_004815.4(ARHGAP29):c.2206T>C (p.Ser736Pro)	ARHGAP29 (S672P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242343	NM_004815.4(ARHGAP29):c.2109+1G>A	ARHGAP29	Single nucleotide variant (splice donor variant)	Nonsyndromic cleft lip with or without cleft palate	GPathogenic
Select item 3128714	NM_004815.4(ARHGAP29):c.2050A>G (p.Ile684Val)	ARHGAP29 (I684V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031254	NM_004815.4(ARHGAP29):c.2043A>G (p.Pro681=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 2497931	NM_004815.4(ARHGAP29):c.1940G>A (p.Arg647Gln)	ARHGAP29 (R583Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625277	NM_004815.4(ARHGAP29):c.1920+1G>A	ARHGAP29	Single nucleotide variant (splice donor variant)	Nonsyndromic cleft lip with or without cleft palate	GPathogenic
Select item 738303	NM_004815.4(ARHGAP29):c.1881T>C (p.Cys627=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1338788	NM_004815.4(ARHGAP29):c.1865C>T (p.Thr622Met)	ARHGAP29 (T558M +2 more)	Single nucleotide variant (missense variant)	Isolated cleft palate	GUncertain significance
Select item 2632162	NM_004815.4(ARHGAP29):c.1834dup (p.Thr612fs)	ARHGAP29 (T548fs +2 more)	Duplication (frameshift variant)	ARHGAP29-related disorder	GUncertain significance
Select item 2242467	NM_004815.4(ARHGAP29):c.1799C>T (p.Thr600Ile)	ARHGAP29 (T536I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733875	NM_004815.4(ARHGAP29):c.1773A>G (p.Ser591=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3364911	NM_004815.4(ARHGAP29):c.1726A>G (p.Met576Val)	ARHGAP29 (M512V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633472	NM_004815.4(ARHGAP29):c.1706G>A (p.Arg569Gln)	ARHGAP29 (R505Q +2 more)	Single nucleotide variant (missense variant)	ARHGAP29-related disorder	GUncertain significance
Select item 3128713	NM_004815.4(ARHGAP29):c.1694G>A (p.Arg565Gln)	ARHGAP29 (R501Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489686	NM_004815.4(ARHGAP29):c.1691A>T (p.His564Leu)	ARHGAP29 (H564L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504987	NM_004815.4(ARHGAP29):c.1672A>G (p.Ile558Val)	ARHGAP29 (I494V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3311541	NM_004815.4(ARHGAP29):c.1614T>A (p.Phe538Leu)	ARHGAP29 (F474L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025414	NM_004815.4(ARHGAP29):c.1571T>C (p.Ile524Thr)	ARHGAP29 (I460T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734578	NM_004815.4(ARHGAP29):c.1527T>C (p.Ser509=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3311504	NM_004815.4(ARHGAP29):c.1493A>C (p.Asn498Thr)	ARHGAP29 (N434T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057064	NM_004815.4(ARHGAP29):c.1491C>A (p.Ala497=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 242340	NM_004815.4(ARHGAP29):c.1475C>A (p.Ser492Ter)	ARHGAP29 (S492* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic cleft lip with or without cleft palate	GPathogenic
Select item 3128712	NM_004815.4(ARHGAP29):c.1462A>G (p.Ser488Gly)	ARHGAP29 (S424G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615012	NM_004815.4(ARHGAP29):c.1409C>G (p.Thr470Arg)	ARHGAP29 (T406R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221725	NM_004815.4(ARHGAP29):c.1381C>G (p.Gln461Glu)	ARHGAP29 (Q397E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307462	NM_004815.4(ARHGAP29):c.1288G>A (p.Val430Ile)	ARHGAP29 (V366I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128711	NM_004815.4(ARHGAP29):c.1270A>G (p.Thr424Ala)	ARHGAP29 (T360A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734982	NM_004815.4(ARHGAP29):c.1252G>A (p.Val418Ile)	ARHGAP29 (V418I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3348355	NM_004815.4(ARHGAP29):c.1244G>A (p.Arg415Gln)	ARHGAP29 (R351Q +1 more)	Single nucleotide variant (missense variant)	ARHGAP29-related disorder	GUncertain significance
Select item 2517046	NM_004815.4(ARHGAP29):c.1240C>T (p.Leu414Phe)	ARHGAP29 (L414F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631392	NM_004815.4(ARHGAP29):c.1229T>G (p.Ile410Ser)	ARHGAP29 (I346S +1 more)	Single nucleotide variant (missense variant)	ARHGAP29-related disorder	GUncertain significance
Select item 3036101	NM_004815.4(ARHGAP29):c.1227A>G (p.Glu409=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 740768	NM_004815.4(ARHGAP29):c.1188T>C (p.Val396=)	ARHGAP29	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250572	NM_004815.4(ARHGAP29):c.1151A>C (p.Glu384Ala)	ARHGAP29 (E320A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033716	NM_004815.4(ARHGAP29):c.1144-9T>A	ARHGAP29	Single nucleotide variant (intron variant)	ARHGAP29-related disorder	GLikely benign
Select item 1272051	NM_004815.4(ARHGAP29):c.1144-26dup	ARHGAP29	Duplication (intron variant)	not provided	GBenign
Select item 2465557	NM_004815.4(ARHGAP29):c.1088A>G (p.Asn363Ser)	ARHGAP29 (N363S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476933	NM_004815.4(ARHGAP29):c.1054G>C (p.Glu352Gln)	ARHGAP29 (E288Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3355755	NM_004815.4(ARHGAP29):c.1008A>G (p.Gln336=)	ARHGAP29	Single nucleotide variant (synonymous variant)	ARHGAP29-related disorder	GLikely benign
Select item 217319	NM_004815.4(ARHGAP29):c.976A>T (p.Lys326Ter)	ARHGAP29 (K326* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1712614	NM_004815.4(ARHGAP29):c.952A>G (p.Met318Val)	ARHGAP29 (M254V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301883	NM_004815.4(ARHGAP29):c.928C>T (p.Leu310Phe)	ARHGAP29 (L246F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515264	NM_004815.4(ARHGAP29):c.912G>T (p.Arg304Ser)	ARHGAP29 (R240S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243631	NM_004815.4(ARHGAP29):c.898A>G (p.Met300Val)	ARHGAP29 (M300V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037555	NM_004815.4(ARHGAP29):c.873+11_873+15del	ARHGAP29	Deletion (intron variant)	ARHGAP29-related disorder	GLikely benign
Select item 2318801	NM_004815.4(ARHGAP29):c.830T>C (p.Leu277Ser)	ARHGAP29 (L213S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495163	NM_004815.4(ARHGAP29):c.821G>A (p.Ser274Asn)	ARHGAP29 (S210N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526964	NM_004815.4(ARHGAP29):c.805A>G (p.Asn269Asp)	ARHGAP29 (N269D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3128723	NM_004815.4(ARHGAP29):c.769A>G (p.Met257Val)	ARHGAP29 (M193V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311570	NM_004815.4(ARHGAP29):c.712A>G (p.Arg238Gly)	ARHGAP29 (R238G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242341	NM_004815.4(ARHGAP29):c.698-1G>C	ARHGAP29	Single nucleotide variant (splice acceptor variant)	Nonsyndromic cleft lip with or without cleft palate	GPathogenic

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