10734[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 181

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 1267511	NM_001282717.2(STAG3):c.-64-97G>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3026104	NM_001282717.2(STAG3):c.11C>T (p.Pro4Leu)	STAG3 (P4L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1236675	NM_001282717.2(STAG3):c.48G>T (p.Leu16Phe)	STAG3 (L16F)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 2478609	NM_001282717.2(STAG3):c.59C>T (p.Ser20Phe)	STAG3 (S20F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277756	NM_001282717.2(STAG3):c.68C>T (p.Ser23Phe)	STAG3 (S23F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217653	NM_001282717.2(STAG3):c.104A>G (p.His35Arg)	STAG3 (H35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1183740	NM_001282717.2(STAG3):c.106A>C (p.Thr36Pro)	STAG3 (T36P)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1240867	NM_001282717.2(STAG3):c.116+22T>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269361	NM_001282717.2(STAG3):c.116+225dup	STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1254489	NM_001282717.2(STAG3):c.117-172_117-171dup	STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1236920	NM_001282717.2(STAG3):c.117-189C>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2354490	NM_001282717.2(STAG3):c.172C>A (p.Arg58Ser)	STAG3 (R58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239681	NM_001282717.2(STAG3):c.219+71G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277185	NM_001282717.2(STAG3):c.220-64C>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280663	NM_001282717.2(STAG3):c.220-63G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3170880	NM_001282717.2(STAG3):c.248G>C (p.Arg83Pro)	STAG3 (R83P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170881	NM_001282717.2(STAG3):c.257A>G (p.His86Arg)	STAG3 (H86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1328922	NM_001282717.2(STAG3):c.291dup (p.Asn98fs)	STAG3 (N98fs)	Duplication (frameshift variant)	Premature ovarian failure 8	GPathogenic
Select item 1272177	NM_001282717.2(STAG3):c.336+193T>C	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275664	NM_001282717.2(STAG3):c.337-109G>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451295	NM_001282717.2(STAG3):c.337-2A>C	STAG3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2470194	NM_001282717.2(STAG3):c.346G>C (p.Asp116His)	STAG3 (D116H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3337635	NM_001282717.2(STAG3):c.405C>G (p.Asn135Lys)	STAG3 (N135K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2321786	NM_001282717.2(STAG3):c.412A>G (p.Ile138Val)	STAG3 (I138V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225329	NM_001282717.2(STAG3):c.424G>A (p.Gly142Arg)	STAG3 (G142R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 126427	NM_001282717.2(STAG3):c.562del (p.Gln188fs)	STAG3 (Q130fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 8	GPathogenic
Select item 2526573	NM_001282717.2(STAG3):c.615C>A (p.Ser205Arg)	STAG3 (S147R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708338	NM_001282717.2(STAG3):c.623A>G (p.Tyr208Cys)	STAG3 (Y150C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2632675	NM_001282717.2(STAG3):c.709del (p.Leu237fs)	STAG3 (L179fs +1 more)	Deletion (frameshift variant)	STAG3-related disorder	GLikely pathogenic
Select item 1264565	NM_001282717.2(STAG3):c.715+180C>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258895	NM_001282717.2(STAG3):c.716-104G>T	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3170889	NM_001282717.2(STAG3):c.785G>A (p.Arg262His)	STAG3 (R262H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360170	NM_001282717.2(STAG3):c.833A>C (p.Glu278Ala)	STAG3 (E278A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614094	NM_001282717.2(STAG3):c.860G>A (p.Arg287His)	STAG3 (R229H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1290460	NM_001282717.2(STAG3):c.867+153A>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2595290	NM_001282717.2(STAG3):c.953C>T (p.Pro318Leu)	STAG3 (P318L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3357763	NM_001282717.2(STAG3):c.954T>C (p.Pro318=)	STAG3	Single nucleotide variant (synonymous variant)	STAG3-related disorder	GLikely benign
Select item 2511413	NM_001282717.2(STAG3):c.958A>G (p.Ile320Val)	STAG3 (I262V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 692153	NM_001282717.2(STAG3):c.962G>A (p.Arg321His)	STAG3 (R263H +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 8 +2 more	GPathogenic/Likely pathogenic
Select item 2597826	NM_001282717.2(STAG3):c.994A>G (p.Met332Val)	STAG3 (M274V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053777	NM_001282717.2(STAG3):c.1011G>A (p.Thr337=)	STAG3	Single nucleotide variant (synonymous variant)	STAG3-related disorder	GLikely benign
Select item 451296	NM_001282717.2(STAG3):c.1065+1G>C	STAG3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1251614	NM_001282717.2(STAG3):c.1066-186C>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053376	NM_001282717.2(STAG3):c.1066-9C>T	STAG3	Single nucleotide variant (intron variant)	STAG3-related disorder	GLikely benign
Select item 929755	NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter)	STAG3 (R299* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure	GPathogenic
Select item 3170875	NM_001282717.2(STAG3):c.1129A>C (p.Thr377Pro)	STAG3 (T377P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323050	NM_001282717.2(STAG3):c.1132A>G (p.Thr378Ala)	STAG3 (T320A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1178875	NM_001282717.2(STAG3):c.1244+134_1244+143del	STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1277068	NM_001282717.2(STAG3):c.1245-41A>G	STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229759	NM_001282717.2(STAG3):c.1245-26T>C	STAG3	Single nucleotide variant (intron variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 3323052	NM_001282717.2(STAG3):c.1249A>G (p.Met417Val)	STAG3 (M417V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 617739	NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg)	STAG3 (L421R +1 more)	Single nucleotide variant (missense variant)	Spermatogenesis maturation arrest +1 more	GLikely pathogenic
Select item 2272753	NM_001282717.2(STAG3):c.1267G>A (p.Asp423Asn)	STAG3 (D365N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479270	NM_001282717.2(STAG3):c.1271C>T (p.Ala424Val)	STAG3 (A366V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1243986	NM_001282717.2(STAG3):c.1293A>C (p.Pro431=)	STAG3	Single nucleotide variant (synonymous variant)	Spermatogenic failure 61 +2 more	GBenign
Select item 617740	NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter)	STAG3 (R438* +1 more)	Single nucleotide variant (nonsense)	Spermatogenesis maturation arrest +1 more	GLikely pathogenic
Select item 3170876	NM_001282717.2(STAG3):c.1313G>A (p.Arg438Gln)	STAG3 (R380Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229819	NM_001282717.2(STAG3):c.1330G>A (p.Ala444Thr)	STAG3 (A386T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541773	NM_001282717.2(STAG3):c.1366G>C (p.Glu456Gln)	STAG3 (E398Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399712	NM_001282717.2(STAG3):c.1417G>A (p.Ala473Thr)	STAG3 (A473T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720655	NM_001282717.2(STAG3):c.1467+3G>A	STAG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 869148	NM_001282717.2(STAG3):c.1571del (p.Gln524fs)	STAG3 (Q466fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure 8	GLikely pathogenic
Select item 430588	NM_001282717.2(STAG3):c.1573+5G>A	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8	GPathogenic
Select item 1287786	NM_001282717.2(STAG3):c.1573+41C>G	STAG3	Single nucleotide variant (intron variant)	Premature ovarian failure 8 +2 more	GBenign
Select item 1289595	NM_001282717.2(STAG3):c.1678-156_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1274841	NM_001282717.2(STAG3):c.1678-155_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1276666	NM_001282717.2(STAG3):c.1678-154del	LOC129998914, STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1239897	NM_001282717.2(STAG3):c.1678-67A>G	LOC129998914, STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2511456	NM_001282717.2(STAG3):c.1688C>A (p.Ser563Tyr)	LOC129998914, STAG3 (S563Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170877	NM_001282717.2(STAG3):c.1711G>A (p.Asp571Asn)	LOC129998914, STAG3 (D571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623827	NM_001282717.2(STAG3):c.1745C>G (p.Pro582Arg)	LOC129998914, STAG3 (P582R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176235	NM_001282717.2(STAG3):c.1762C>T (p.Leu588=)	LOC129998914, STAG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557058	NM_001282717.2(STAG3):c.1850G>A (p.Arg617His)	STAG3 (R559H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260777	NM_001282717.2(STAG3):c.1894G>C (p.Val632Leu)	STAG3 (V574L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1328924	NM_001282717.2(STAG3):c.1936dup (p.Ala646fs)	STAG3 (A588fs +1 more)	Duplication (frameshift variant +1 more)	Spermatogenic failure 61	GPathogenic
Select item 1048097	NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr)	STAG3 (A590T +1 more)	Single nucleotide variant (missense variant +1 more)	Non-obstructive azoospermia +1 more	GUncertain significance
Select item 224903	NM_001282717.2(STAG3):c.1947_1948dup (p.Tyr650fs)	STAG3 (Y650fs +1 more)	Microsatellite (frameshift variant +1 more)	Premature ovarian failure 8	GPathogenic
Select item 1328923	NM_001282717.2(STAG3):c.1950C>A (p.Tyr650Ter)	STAG3 (Y592*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GPathogenic
Select item 1048096	NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del)	STAG3 (L594del +1 more)	Deletion (inframe_deletion +1 more)	Premature ovarian insufficiency +1 more	GLikely pathogenic
Select item 2475368	NM_001282717.2(STAG3):c.1977C>G (p.Phe659Leu)	STAG3 (F601L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513242	NM_001282717.2(STAG3):c.1984C>T (p.Arg662Trp)	STAG3 (R604W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657743	NM_001282717.2(STAG3):c.1999C>T (p.Arg667Cys)	STAG3 (R609C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3323053	NM_001282717.2(STAG3):c.2008C>G (p.Leu670Val)	STAG3 (L670V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537856	NM_001282717.2(STAG3):c.2012T>C (p.Val671Ala)	STAG3 (V671A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404297	NM_001282717.2(STAG3):c.2092A>T (p.Asn698Tyr)	STAG3 (N640Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204410	NM_001282717.2(STAG3):c.2099C>T (p.Ala700Val)	STAG3 (A700V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3351542	NM_001282717.2(STAG3):c.2133-6C>G	STAG3	Single nucleotide variant (non-coding transcript variant +1 more)	CASTOR3-related condition	GLikely benign
Select item 2292772	NM_001282717.2(STAG3):c.2150G>A (p.Arg717His)	STAG3 (R659H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170878	NM_001282717.2(STAG3):c.2162A>G (p.Tyr721Cys)	STAG3 (Y663C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052367	NM_001282717.2(STAG3):c.2208G>A (p.Glu736=)	STAG3	Single nucleotide variant (synonymous variant +1 more)	STAG3-related disorder	GLikely benign
Select item 1802231	NM_001282717.2(STAG3):c.2221-1_2225delinsAC	STAG3	Indel (non-coding transcript variant +1 more)	Premature ovarian failure 8	GLikely pathogenic

<< First< Prev

Page of 2