402569[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2192602	NM_001145715.3(KPNA7):c.1548dup (p.Ter517IleextTer?)	KPNA7	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1513450	NM_001145715.3(KPNA7):c.1546A>C (p.Lys516Gln)	KPNA7 (K516Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563158	NM_001145715.3(KPNA7):c.1539A>G (p.Leu513=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560751	NM_001145715.3(KPNA7):c.1533A>G (p.Glu511=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1018870	NM_001145715.3(KPNA7):c.1531G>A (p.Glu511Lys)	KPNA7 (E511K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870850	NM_001145715.3(KPNA7):c.1530T>C (p.Tyr510=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406458	NM_001145715.3(KPNA7):c.1524A>G (p.Ile508Met)	KPNA7 (I508M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035924	NM_001145715.3(KPNA7):c.1509A>G (p.Gln503=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422044	NM_001145715.3(KPNA7):c.1507C>A (p.Gln503Lys)	KPNA7 (Q503K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001611	NM_001145715.3(KPNA7):c.1507C>T (p.Gln503Ter)	KPNA7 (Q503*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 665529	NM_001145715.3(KPNA7):c.1506C>A (p.Asp502Glu)	KPNA7 (D502E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 711423	NM_001145715.3(KPNA7):c.1500C>T (p.Val500=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 644698	NM_001145715.3(KPNA7):c.1487T>C (p.Leu496Ser)	KPNA7 (L496S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1159089	NM_001145715.3(KPNA7):c.1482A>G (p.Gln494=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2179803	NM_001145715.3(KPNA7):c.1473T>C (p.Asp491=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845913	NM_001145715.3(KPNA7):c.1470A>G (p.Glu490=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394908	NM_001145715.3(KPNA7):c.1465G>A (p.Glu489Lys)	KPNA7 (E489K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045200	NM_001145715.3(KPNA7):c.1465-6C>T	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574983	NM_001145715.3(KPNA7):c.1465-11C>G	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528137	NM_001145715.3(KPNA7):c.1465-14A>G	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624314	NM_001145715.3(KPNA7):c.1465-19T>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2905139	NM_001145715.3(KPNA7):c.1465-21_1465-20del	KPNA7	Deletion (intron variant)	not provided	GLikely benign
Select item 2059126	NM_001145715.3(KPNA7):c.1464+20G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594627	NM_001145715.3(KPNA7):c.1464+18G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1625902	NM_001145715.3(KPNA7):c.1464+17C>T	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1059504	NM_001145715.3(KPNA7):c.1447G>C (p.Glu483Gln)	KPNA7 (E483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021108	NM_001145715.3(KPNA7):c.1447G>A (p.Glu483Lys)	KPNA7 (E483K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940729	NM_001145715.3(KPNA7):c.1441A>G (p.Ile481Val)	KPNA7 (I481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116594	NM_001145715.3(KPNA7):c.1440C>A (p.Asn480Lys)	KPNA7 (N480K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887392	NM_001145715.3(KPNA7):c.1437G>A (p.Leu479=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901844	NM_001145715.3(KPNA7):c.1431G>T (p.Ser477=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559850	NM_001145715.3(KPNA7):c.1431G>A (p.Ser477=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005066	NM_001145715.3(KPNA7):c.1424G>T (p.Gly475Val)	KPNA7 (G475V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 655368	NM_001145715.3(KPNA7):c.1423G>A (p.Gly475Ser)	KPNA7 (G475S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390804	NM_001145715.3(KPNA7):c.1420A>G (p.Ile474Val)	KPNA7 (I474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 238561	NM_001145715.3(KPNA7):c.1415G>A (p.Arg472His)	KPNA7 (R472H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1045545	NM_001145715.3(KPNA7):c.1414C>T (p.Arg472Cys)	KPNA7 (R472C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437997	NM_001145715.3(KPNA7):c.1408G>T (p.Glu470Ter)	KPNA7 (E470*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1422279	NM_001145715.3(KPNA7):c.1406A>G (p.His469Arg)	KPNA7 (H469R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131556	NM_001145715.3(KPNA7):c.1404G>T (p.Leu468=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949672	NM_001145715.3(KPNA7):c.1402C>A (p.Leu468Met)	KPNA7 (L468M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1951938	NM_001145715.3(KPNA7):c.1383T>C (p.Asp461=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 696686	NM_001145715.3(KPNA7):c.1380C>T (p.Ile460=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774117	NM_001145715.3(KPNA7):c.1374T>G (p.Gly458=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 700861	NM_001145715.3(KPNA7):c.1368A>G (p.Glu456=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713936	NM_001145715.3(KPNA7):c.1359_1360delinsTG (p.Ile454Val)	KPNA7 (I454V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1416480	NM_001145715.3(KPNA7):c.1360A>C (p.Ile454Leu)	KPNA7 (I454L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794860	NM_001145715.3(KPNA7):c.1357C>T (p.Leu453=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498075	NM_001145715.3(KPNA7):c.1350_1356del (p.Leu450_Cys451insTer)	KPNA7	Deletion (frameshift variant)	Oocyte/zygote/embryo maturation arrest 17	GPathogenic
Select item 1447518	NM_001145715.3(KPNA7):c.1352_1353del (p.Cys451fs)	KPNA7 (C451fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 956889	NM_001145715.3(KPNA7):c.1353T>G (p.Cys451Trp)	KPNA7 (C451W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 657070	NM_001145715.3(KPNA7):c.1351T>C (p.Cys451Arg)	KPNA7 (C451R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2150472	NM_001145715.3(KPNA7):c.1337_1350del (p.Glu446fs)	KPNA7 (E446fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1118326	NM_001145715.3(KPNA7):c.1350G>A (p.Leu450=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827076	NM_001145715.3(KPNA7):c.1348C>T (p.Leu450=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673845	NM_001145715.3(KPNA7):c.1347C>T (p.Asn449=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1039607	NM_001145715.3(KPNA7):c.1347C>G (p.Asn449Lys)	KPNA7 (N449K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1967376	NM_001145715.3(KPNA7):c.1333T>C (p.Ser445Pro)	KPNA7 (S445P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062416	NM_001145715.3(KPNA7):c.1331G>A (p.Arg444Gln)	KPNA7 (R444Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862294	NM_001145715.3(KPNA7):c.1330C>T (p.Arg444Trp)	KPNA7 (R444W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416598	NM_001145715.3(KPNA7):c.1329A>G (p.Lys443=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144739	NM_001145715.3(KPNA7):c.1322C>T (p.Ala441Val)	KPNA7 (A441V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696228	NM_001145715.3(KPNA7):c.1320G>A (p.Ala440=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 639961	NM_001145715.3(KPNA7):c.1319C>T (p.Ala440Val)	KPNA7 (A440V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855942	NM_001145715.3(KPNA7):c.1318G>A (p.Ala440Thr)	KPNA7 (A440T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664345	NM_001145715.3(KPNA7):c.1318-5C>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 415824	NM_001145715.3(KPNA7):c.1318-7G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1107518	NM_001145715.3(KPNA7):c.1318-8G>C	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729020	NM_001145715.3(KPNA7):c.1318-14G>C	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154696	NM_001145715.3(KPNA7):c.1318-14G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702211	NM_001145715.3(KPNA7):c.1318-20C>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550321	NM_001145715.3(KPNA7):c.1317+17A>C	KPNA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695368	NM_001145715.3(KPNA7):c.1317+7C>T	KPNA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1000829	NM_001145715.3(KPNA7):c.1317+5G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 596301	NM_001145715.3(KPNA7):c.1317+3G>A	KPNA7	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1539415	NM_001145715.3(KPNA7):c.1311C>T (p.Ile437=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 238560	NM_001145715.3(KPNA7):c.1311C>A (p.Ile437=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123617	NM_001145715.3(KPNA7):c.1306T>C (p.Cys436Arg)	KPNA7 (C436R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037226	NM_001145715.3(KPNA7):c.1285A>C (p.Ile429Leu)	KPNA7 (I429L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748139	NM_001145715.3(KPNA7):c.1284C>T (p.Leu428=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050815	NM_001145715.3(KPNA7):c.1282C>G (p.Leu428Val)	KPNA7 (L428V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400292	NM_001145715.3(KPNA7):c.1276A>G (p.Ile426Val)	KPNA7 (I426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139298	NM_001145715.3(KPNA7):c.1268A>T (p.Asp423Val)	KPNA7 (D423V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022680	NM_001145715.3(KPNA7):c.1266A>C (p.Pro422=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446992	NM_001145715.3(KPNA7):c.1264C>T (p.Pro422Ser)	KPNA7 (P422S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1427193	NM_001145715.3(KPNA7):c.1253T>C (p.Leu418Pro)	KPNA7 (L418P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402563	NM_001145715.3(KPNA7):c.1252C>G (p.Leu418Val)	KPNA7 (L418V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030827	NM_001145715.3(KPNA7):c.1251T>C (p.Asn417=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040670	NM_001145715.3(KPNA7):c.1244T>C (p.Leu415Pro)	KPNA7 (L415P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008782	NM_001145715.3(KPNA7):c.1241C>T (p.Pro414Leu)	KPNA7 (P414L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 661346	NM_001145715.3(KPNA7):c.1241C>G (p.Pro414Arg)	KPNA7 (P414R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950250	NM_001145715.3(KPNA7):c.1240C>A (p.Pro414Thr)	KPNA7 (P414T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484817	NM_001145715.3(KPNA7):c.1236G>A (p.Leu412=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520791	NM_001145715.3(KPNA7):c.1231G>A (p.Val411Ile)	KPNA7 (V411I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554627	NM_001145715.3(KPNA7):c.1230G>T (p.Gly410=)	KPNA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 409804	NM_001145715.3(KPNA7):c.1229G>T (p.Gly410Val)	KPNA7 (G410V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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