57568[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 3162425	NM_020808.5(SIPA1L2):c.5107G>A (p.Ala1703Thr)	SIPA1L2 (A1703T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392518	NM_020808.5(SIPA1L2):c.5017C>T (p.Arg1673Trp)	SIPA1L2 (R1655W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318592	NM_020808.5(SIPA1L2):c.5011G>A (p.Asp1671Asn)	SIPA1L2 (D1653N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316849	NM_020808.5(SIPA1L2):c.4997G>A (p.Arg1666Gln)	SIPA1L2 (R1666Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539071	NM_020808.5(SIPA1L2):c.4993C>A (p.Leu1665Ile)	SIPA1L2 (L1647I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621696	NM_020808.5(SIPA1L2):c.4971A>C (p.Lys1657Asn)	SIPA1L2 (K1657N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318593	NM_020808.5(SIPA1L2):c.4945C>T (p.Arg1649Cys)	SIPA1L2 (R1631C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459921	NM_020808.5(SIPA1L2):c.4910G>A (p.Gly1637Asp)	SIPA1L2 (G1637D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458092	NM_020808.5(SIPA1L2):c.4888C>A (p.Leu1630Met)	SIPA1L2 (L1630M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162424	NM_020808.5(SIPA1L2):c.4879G>T (p.Ala1627Ser)	SIPA1L2 (A1609S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162423	NM_020808.5(SIPA1L2):c.4825G>A (p.Val1609Met)	SIPA1L2 (V1609M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266759	NM_020808.5(SIPA1L2):c.4810T>C (p.Tyr1604His)	SIPA1L2 (Y1604H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151105	GRCh38/hg38 1q42.2(chr1:232404562-233269974)x3	LINC01744, LINC01745 +25 more	Copy number gain	See cases	GLikely benign
Select item 3318590	NM_020808.5(SIPA1L2):c.4741G>T (p.Asp1581Tyr)	SIPA1L2 (D1581Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162422	NM_020808.5(SIPA1L2):c.4678G>A (p.Ala1560Thr)	SIPA1L2 (A1560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714105	NM_020808.5(SIPA1L2):c.4677C>T (p.Cys1559=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3162421	NM_020808.5(SIPA1L2):c.4615A>C (p.Met1539Leu)	SIPA1L2 (M1539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343601	NM_020808.5(SIPA1L2):c.4597G>T (p.Ala1533Ser)	SIPA1L2 (A1533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718930	NM_020808.5(SIPA1L2):c.4445C>T (p.Ser1482Leu)	SIPA1L2 (S1482L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2616397	NM_020808.5(SIPA1L2):c.4329G>C (p.Glu1443Asp)	SIPA1L2 (E1443D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466594	NM_020808.5(SIPA1L2):c.4303A>G (p.Thr1435Ala)	SIPA1L2 (T1435A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640082	NM_020808.5(SIPA1L2):c.4279A>C (p.Met1427Leu)	SIPA1L2 (M1427L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784976	NM_020808.5(SIPA1L2):c.4256+9G>A	SIPA1L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3162420	NM_020808.5(SIPA1L2):c.4255G>A (p.Gly1419Arg)	SIPA1L2 (G1419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162419	NM_020808.5(SIPA1L2):c.4195G>A (p.Gly1399Ser)	SIPA1L2 (G1399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352556	NM_020808.5(SIPA1L2):c.4141G>A (p.Gly1381Arg)	SIPA1L2 (G1381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273060	NM_020808.5(SIPA1L2):c.4103T>G (p.Val1368Gly)	SIPA1L2 (V1368G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162418	NM_020808.5(SIPA1L2):c.4051A>G (p.Ser1351Gly)	SIPA1L2 (S1351G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162417	NM_020808.5(SIPA1L2):c.3991G>A (p.Gly1331Ser)	SIPA1L2 (G1331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291708	NM_020808.5(SIPA1L2):c.3944C>G (p.Ser1315Cys)	SIPA1L2 (S1315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162416	NM_020808.5(SIPA1L2):c.3907G>A (p.Val1303Ile)	SIPA1L2 (V1303I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548149	NM_020808.5(SIPA1L2):c.3896A>G (p.Asp1299Gly)	SIPA1L2 (D1299G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235979	NM_020808.5(SIPA1L2):c.3884A>G (p.Glu1295Gly)	SIPA1L2 (E1295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318587	NM_020808.5(SIPA1L2):c.3835G>A (p.Gly1279Ser)	SIPA1L2 (G1279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780809	NM_020808.5(SIPA1L2):c.3834C>T (p.Leu1278=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3318588	NM_020808.5(SIPA1L2):c.3790G>A (p.Asp1264Asn)	SIPA1L2 (D1264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244256	NM_020808.5(SIPA1L2):c.3787A>G (p.Thr1263Ala)	SIPA1L2 (T1263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215003	NM_020808.5(SIPA1L2):c.3751G>A (p.Glu1251Lys)	SIPA1L2 (E1251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307207	NM_020808.5(SIPA1L2):c.3745G>T (p.Asp1249Tyr)	SIPA1L2 (D1249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162414	NM_020808.5(SIPA1L2):c.3727G>C (p.Gly1243Arg)	SIPA1L2 (G1243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517758	NM_020808.5(SIPA1L2):c.3719A>G (p.Lys1240Arg)	SIPA1L2 (K1240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356318	NM_020808.5(SIPA1L2):c.3666T>A (p.Ser1222Arg)	SIPA1L2 (S1222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162413	NM_020808.5(SIPA1L2):c.3623C>T (p.Ser1208Phe)	SIPA1L2 (S1208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318600	NM_020808.5(SIPA1L2):c.3617A>G (p.Lys1206Arg)	SIPA1L2 (K1206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543975	NM_020808.5(SIPA1L2):c.3530G>C (p.Arg1177Thr)	SIPA1L2 (R1177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330183	NM_020808.5(SIPA1L2):c.3460G>A (p.Glu1154Lys)	SIPA1L2 (E1154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272501	NM_020808.5(SIPA1L2):c.3440G>T (p.Cys1147Phe)	SIPA1L2 (C1147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268351	NM_020808.5(SIPA1L2):c.3436G>T (p.Gly1146Trp)	SIPA1L2 (G1146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275680	NM_020808.5(SIPA1L2):c.3397G>A (p.Gly1133Ser)	SIPA1L2 (G1133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318599	NM_020808.5(SIPA1L2):c.3286C>G (p.Leu1096Val)	SIPA1L2 (L1096V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773645	NM_020808.5(SIPA1L2):c.3252C>T (p.Pro1084=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2467347	NM_020808.5(SIPA1L2):c.3155C>G (p.Thr1052Ser)	SIPA1L2 (T1052S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464575	NM_020808.5(SIPA1L2):c.3134A>G (p.Tyr1045Cys)	SIPA1L2 (Y1045C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162412	NM_020808.5(SIPA1L2):c.3124A>G (p.Met1042Val)	SIPA1L2 (M1042V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460485	NM_020808.5(SIPA1L2):c.3116G>A (p.Arg1039Gln)	SIPA1L2 (R1039Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318601	NM_020808.5(SIPA1L2):c.3109C>A (p.Leu1037Ile)	SIPA1L2 (L1037I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726590	NM_020808.5(SIPA1L2):c.3054G>A (p.Lys1018=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714106	NM_020808.5(SIPA1L2):c.3012C>T (p.His1004=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2510448	NM_020808.5(SIPA1L2):c.2974G>A (p.Val992Met)	SIPA1L2 (V992M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327873	NM_020808.5(SIPA1L2):c.2881C>G (p.Leu961Val)	SIPA1L2 (L961V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162411	NM_020808.5(SIPA1L2):c.2867A>G (p.Asn956Ser)	SIPA1L2 (N956S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287757	NM_020808.5(SIPA1L2):c.2791G>A (p.Asp931Asn)	SIPA1L2 (D931N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328223	NM_020808.5(SIPA1L2):c.2780A>G (p.Asn927Ser)	SIPA1L2 (N927S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589842	NM_020808.5(SIPA1L2):c.2771C>T (p.Ser924Leu)	SIPA1L2 (S924L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540324	NM_020808.5(SIPA1L2):c.2768C>G (p.Ser923Cys)	SIPA1L2 (S923C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162410	NM_020808.5(SIPA1L2):c.2739T>G (p.Phe913Leu)	SIPA1L2 (F913L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162409	NM_020808.5(SIPA1L2):c.2687C>A (p.Ser896Tyr)	SIPA1L2 (S896Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237242	NM_020808.5(SIPA1L2):c.2681A>G (p.Asn894Ser)	SIPA1L2 (N894S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352495	NM_020808.5(SIPA1L2):c.2644A>G (p.Met882Val)	SIPA1L2 (M882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370342	NM_020808.5(SIPA1L2):c.2610T>G (p.Ile870Met)	SIPA1L2 (I870M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208819	NM_020808.5(SIPA1L2):c.2608A>C (p.Ile870Leu)	SIPA1L2 (I870L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254790	NM_020808.5(SIPA1L2):c.2584C>T (p.Arg862Trp)	SIPA1L2 (R862W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318586	NM_020808.5(SIPA1L2):c.2575G>A (p.Val859Met)	SIPA1L2 (V859M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511795	NM_020808.5(SIPA1L2):c.2547G>C (p.Leu849Phe)	SIPA1L2 (L849F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337529	NM_020808.5(SIPA1L2):c.2536G>T (p.Asp846Tyr)	SIPA1L2 (D846Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559038	NM_020808.5(SIPA1L2):c.2458G>A (p.Ala820Thr)	SIPA1L2 (A820T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222878	NM_020808.5(SIPA1L2):c.2455A>G (p.Thr819Ala)	SIPA1L2 (T819A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162408	NM_020808.5(SIPA1L2):c.2440G>A (p.Glu814Lys)	SIPA1L2 (E814K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318589	NM_020808.5(SIPA1L2):c.2438C>T (p.Ala813Val)	SIPA1L2 (A813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716678	NM_020808.5(SIPA1L2):c.2412G>A (p.Thr804=)	SIPA1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508488	NM_020808.5(SIPA1L2):c.2393G>A (p.Arg798Gln)	SIPA1L2 (R798Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162407	NM_020808.5(SIPA1L2):c.2330G>A (p.Arg777Gln)	SIPA1L2 (R777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297819	NM_020808.5(SIPA1L2):c.2218C>T (p.Pro740Ser)	SIPA1L2 (P740S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480930	NM_020808.5(SIPA1L2):c.2213A>G (p.His738Arg)	SIPA1L2 (H738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318595	NM_020808.5(SIPA1L2):c.2128G>A (p.Val710Ile)	SIPA1L2 (V710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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