246176[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 1276626	NM_139285.4(GAS2L2):c.*226G>A	GAS2L2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280533	NM_139285.4(GAS2L2):c.*21A>T	GAS2L2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2407393	NM_139285.4(GAS2L2):c.2599C>T (p.Leu867Phe)	GAS2L2 (L867F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043180	NM_139285.4(GAS2L2):c.2591C>T (p.Pro864Leu)	GAS2L2 (P864L)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GBenign
Select item 3034870	NM_139285.4(GAS2L2):c.2548G>A (p.Ala850Thr)	GAS2L2 (A850T)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GBenign
Select item 3280790	NM_139285.4(GAS2L2):c.2515G>A (p.Glu839Lys)	GAS2L2 (E839K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280788	NM_139285.4(GAS2L2):c.2486G>A (p.Arg829Gln)	GAS2L2 (R829Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1259731	NM_139285.4(GAS2L2):c.2485C>T (p.Arg829Trp)	GAS2L2 (R829W)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3048419	NM_139285.4(GAS2L2):c.2481A>G (p.Ala827=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 2538418	NM_139285.4(GAS2L2):c.2479G>C (p.Ala827Pro)	GAS2L2 (A827P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098632	NM_139285.4(GAS2L2):c.2471G>A (p.Gly824Glu)	GAS2L2 (G824E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041820	NM_139285.4(GAS2L2):c.2442G>A (p.Arg814=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GBenign
Select item 3042558	NM_139285.4(GAS2L2):c.2433C>T (p.Pro811=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 2231894	NM_139285.4(GAS2L2):c.2428C>T (p.Pro810Ser)	GAS2L2 (P810S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039778	NM_139285.4(GAS2L2):c.2342G>C (p.Arg781Pro)	GAS2L2 (R781P)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GBenign
Select item 2511090	NM_139285.4(GAS2L2):c.2342G>A (p.Arg781Gln)	GAS2L2 (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462563	NM_139285.4(GAS2L2):c.2341C>T (p.Arg781Trp)	GAS2L2 (R781W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379935	NM_139285.4(GAS2L2):c.2306C>T (p.Pro769Leu)	GAS2L2 (P769L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041425	NM_139285.4(GAS2L2):c.2288G>A (p.Arg763Gln)	GAS2L2 (R763Q)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GLikely benign
Select item 2647671	NM_139285.4(GAS2L2):c.2277_2279del (p.Arg760del)	GAS2L2 (R760del)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3057086	NM_139285.4(GAS2L2):c.2271G>A (p.Lys757=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GBenign
Select item 2541228	NM_139285.4(GAS2L2):c.2240A>G (p.Asn747Ser)	GAS2L2 (N747S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2432041	NM_139285.4(GAS2L2):c.2207C>T (p.Pro736Leu)	GAS2L2 (P736L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 41	GUncertain significance
Select item 3098631	NM_139285.4(GAS2L2):c.2161C>A (p.Pro721Thr)	GAS2L2 (P721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647672	NM_139285.4(GAS2L2):c.2130T>C (p.Ser710=)	GAS2L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098630	NM_139285.4(GAS2L2):c.2122A>G (p.Ser708Gly)	GAS2L2 (S708G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532056	NM_139285.4(GAS2L2):c.2120C>G (p.Ala707Gly)	GAS2L2 (A707G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280793	NM_139285.4(GAS2L2):c.2039C>T (p.Ser680Phe)	GAS2L2 (S680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551568	NM_139285.4(GAS2L2):c.2015C>T (p.Ala672Val)	GAS2L2 (A672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274213	NM_139285.4(GAS2L2):c.1997T>C (p.Leu666Pro)	GAS2L2 (L666P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2454744	NM_139285.4(GAS2L2):c.1987C>T (p.Pro663Ser)	GAS2L2 (P663S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264410	NM_139285.4(GAS2L2):c.1961C>T (p.Ala654Val)	GAS2L2 (A654V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3098628	NM_139285.4(GAS2L2):c.1883G>A (p.Gly628Glu)	GAS2L2 (G628E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223958	NM_139285.4(GAS2L2):c.1873A>G (p.Thr625Ala)	GAS2L2 (T625A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053260	NM_139285.4(GAS2L2):c.1780G>A (p.Gly594Arg)	GAS2L2 (G594R)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GLikely benign
Select item 2551228	NM_139285.4(GAS2L2):c.1777G>T (p.Gly593Cys)	GAS2L2 (G593C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599144	NM_139285.4(GAS2L2):c.1757G>A (p.Arg586Gln)	GAS2L2 (R586Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278354	NM_139285.4(GAS2L2):c.1726T>C (p.Trp576Arg)	GAS2L2 (W576R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098627	NM_139285.4(GAS2L2):c.1722G>T (p.Glu574Asp)	GAS2L2 (E574D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332770	NM_139285.4(GAS2L2):c.1707G>A (p.Met569Ile)	GAS2L2 (M569I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510563	NM_139285.4(GAS2L2):c.1702G>C (p.Val568Leu)	GAS2L2 (V568L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365466	NM_139285.4(GAS2L2):c.1680G>C (p.Glu560Asp)	GAS2L2 (E560D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555734	NM_139285.4(GAS2L2):c.1651G>A (p.Gly551Arg)	GAS2L2 (G551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046687	NM_139285.4(GAS2L2):c.1649A>G (p.His550Arg)	GAS2L2 (H550R)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GLikely benign
Select item 2270616	NM_139285.4(GAS2L2):c.1648C>T (p.His550Tyr)	GAS2L2 (H550Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049267	NM_139285.4(GAS2L2):c.1644C>T (p.Ser548=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 252783	NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile)	GAS2L2 (V541I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3053576	NM_139285.4(GAS2L2):c.1620C>T (p.Ala540=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 1273837	NM_139285.4(GAS2L2):c.1618G>A (p.Ala540Thr)	GAS2L2 (A540T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2353721	NM_139285.4(GAS2L2):c.1604C>A (p.Pro535His)	GAS2L2 (P535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381745	NM_139285.4(GAS2L2):c.1603C>T (p.Pro535Ser)	GAS2L2 (P535S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275548	NM_139285.4(GAS2L2):c.1603C>G (p.Pro535Ala)	GAS2L2 (P535A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098626	NM_139285.4(GAS2L2):c.1602C>G (p.Asp534Glu)	GAS2L2 (D534E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314558	NM_139285.4(GAS2L2):c.1595G>A (p.Gly532Glu)	GAS2L2 (G532E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280792	NM_139285.4(GAS2L2):c.1592T>G (p.Leu531Arg)	GAS2L2 (L531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098625	NM_139285.4(GAS2L2):c.1584G>T (p.Arg528Ser)	GAS2L2 (R528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303780	NM_139285.4(GAS2L2):c.1570A>G (p.Ser524Gly)	GAS2L2 (S524G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359148	NM_139285.4(GAS2L2):c.1558C>T (p.Pro520Ser)	GAS2L2 (P520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098624	NM_139285.4(GAS2L2):c.1532G>T (p.Arg511Leu)	GAS2L2 (R511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538565	NM_139285.4(GAS2L2):c.1531C>T (p.Arg511Cys)	GAS2L2 (R511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036872	NM_139285.4(GAS2L2):c.1512C>T (p.Pro504=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 2348178	NM_139285.4(GAS2L2):c.1474C>T (p.Arg492Cys)	GAS2L2 (R492C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098623	NM_139285.4(GAS2L2):c.1463C>G (p.Pro488Arg)	GAS2L2 (P488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098622	NM_139285.4(GAS2L2):c.1442C>T (p.Ala481Val)	GAS2L2 (A481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050564	NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr)	GAS2L2 (A481T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2588854	NM_139285.4(GAS2L2):c.1423C>T (p.Arg475Trp)	GAS2L2 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280789	NM_139285.4(GAS2L2):c.1408C>T (p.Leu470Phe)	GAS2L2 (L470F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050351	NM_139285.4(GAS2L2):c.1396G>A (p.Glu466Lys)	GAS2L2 (E466K)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GBenign
Select item 3040709	NM_139285.4(GAS2L2):c.1378C>T (p.Arg460Cys)	GAS2L2 (R460C)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GBenign
Select item 3048443	NM_139285.4(GAS2L2):c.1354_1368del (p.Ala452_Ser456del)	GAS2L2	Deletion	GAS2L2-related disorder	GUncertain significance
Select item 2307128	NM_139285.4(GAS2L2):c.1351T>A (p.Ser451Thr)	GAS2L2 (S451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354394	NM_139285.4(GAS2L2):c.1350A>G (p.Ile450Met)	GAS2L2 (I450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803292	NM_139285.4(GAS2L2):c.1340C>G (p.Thr447Ser)	GAS2L2 (T447S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 41	GUncertain significance
Select item 2601341	NM_139285.4(GAS2L2):c.1328T>C (p.Ile443Thr)	GAS2L2 (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381095	NM_139285.4(GAS2L2):c.1322G>A (p.Arg441Gln)	GAS2L2 (R441Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215452	NM_139285.4(GAS2L2):c.1297G>A (p.Gly433Arg)	GAS2L2 (G433R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280785	NM_139285.4(GAS2L2):c.1294G>A (p.Ala432Thr)	GAS2L2 (A432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381909	NM_139285.4(GAS2L2):c.1291G>A (p.Asp431Asn)	GAS2L2 (D431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041184	NM_139285.4(GAS2L2):c.1290C>T (p.Thr430=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 2459153	NM_139285.4(GAS2L2):c.1264C>T (p.His422Tyr)	GAS2L2 (H422Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339016	NM_139285.4(GAS2L2):c.1221C>A (p.Tyr407Ter)	GAS2L2 (Y407*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1227000	NM_139285.4(GAS2L2):c.1215G>A (p.Glu405=)	GAS2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2205136	NM_139285.4(GAS2L2):c.1196C>T (p.Ser399Leu)	GAS2L2 (S399L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098621	NM_139285.4(GAS2L2):c.1189T>G (p.Cys397Gly)	GAS2L2 (C397G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280798	NM_139285.4(GAS2L2):c.1184C>T (p.Pro395Leu)	GAS2L2 (P395L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098620	NM_139285.4(GAS2L2):c.1169A>G (p.Gln390Arg)	GAS2L2 (Q390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039511	NM_139285.4(GAS2L2):c.1125G>A (p.Pro375=)	GAS2L2	Single nucleotide variant (synonymous variant)	GAS2L2-related disorder	GLikely benign
Select item 2612311	NM_139285.4(GAS2L2):c.1114T>C (p.Trp372Arg)	GAS2L2 (W372R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1244829	NM_139285.4(GAS2L2):c.1113T>C (p.Ser371=)	GAS2L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3098618	NM_139285.4(GAS2L2):c.1078T>C (p.Phe360Leu)	GAS2L2 (F360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544287	NM_139285.4(GAS2L2):c.1078T>A (p.Phe360Ile)	GAS2L2 (F360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033336	NM_139285.4(GAS2L2):c.1057G>T (p.Ala353Ser)	GAS2L2 (A353S)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GLikely benign
Select item 2284816	NM_139285.4(GAS2L2):c.1055G>A (p.Gly352Glu)	GAS2L2 (G352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098617	NM_139285.4(GAS2L2):c.1052C>T (p.Thr351Met)	GAS2L2 (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212826	NM_139285.4(GAS2L2):c.1031G>A (p.Arg344His)	GAS2L2 (R344H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2326817	NM_139285.4(GAS2L2):c.1006C>T (p.Pro336Ser)	GAS2L2 (P336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280794	NM_139285.4(GAS2L2):c.980C>T (p.Thr327Ile)	GAS2L2 (T327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031368	NM_139285.4(GAS2L2):c.962T>C (p.Val321Ala)	GAS2L2 (V321A)	Single nucleotide variant (missense variant)	GAS2L2-related disorder	GLikely benign
Select item 1699243	NM_139285.4(GAS2L2):c.938G>A (p.Arg313His)	GAS2L2 (R313H)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 41 +1 more	GUncertain significance

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