2257[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 151835	GRCh38/hg38 3q28(chr3:191142435-192393271)x1	CCDC50, FGF12 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 151830	GRCh38/hg38 3q28(chr3:191647446-192214051)x3	FGF12, LOC123464488 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1245924	NM_004113.6(FGF12):c.*277T>C	FGF12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2195318	NM_004113.6(FGF12):c.541A>G (p.Thr181Ala)	FGF12 (T157A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803626	NM_004113.6(FGF12):c.539C>G (p.Ser180Ter)	FGF12 (S143* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2743776	NM_004113.6(FGF12):c.515G>T (p.Gly172Val)	FGF12 (G172V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504915	NM_004113.6(FGF12):c.513T>G (p.Asn171Lys)	FGF12 (N134K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712052	NM_004113.6(FGF12):c.511A>G (p.Asn171Asp)	FGF12 (N134D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989613	NM_004113.6(FGF12):c.506C>T (p.Thr169Ile)	FGF12 (T231I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696706	NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)	FGF12 (S127N +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47	GUncertain significance
Select item 2703909	NM_004113.6(FGF12):c.484A>T (p.Arg162Trp)	FGF12 (R125W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385546	NM_004113.6(FGF12):c.479G>A (p.Arg160His)	FGF12 (R160H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719681	NM_004113.6(FGF12):c.478C>T (p.Arg160Cys)	FGF12 (R123C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611964	NM_004113.6(FGF12):c.477G>C (p.Gly159=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377414	NM_004113.6(FGF12):c.475G>C (p.Gly159Arg)	FGF12 (G122R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2075197	NM_004113.6(FGF12):c.463G>A (p.Gly155Arg)	FGF12 (G118R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2823869	NM_004113.6(FGF12):c.455A>C (p.His152Pro)	FGF12 (H115P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851847	NM_004113.6(FGF12):c.454del (p.His152fs)	FGF12 (H115fs +3 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1578196	NM_004113.6(FGF12):c.450G>A (p.Ser150=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355797	NM_004113.6(FGF12):c.449C>T (p.Ser150Leu)	FGF12 (S113L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025941	NM_004113.6(FGF12):c.431G>T (p.Cys144Phe)	FGF12 (C120F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774098	NM_004113.6(FGF12):c.429G>A (p.Val143=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1665590	NM_004113.6(FGF12):c.428-17G>T	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656097	NM_004113.6(FGF12):c.428-17G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257397	NM_004113.6(FGF12):c.428-275del	FGF12	Deletion (intron variant)	not provided	GBenign
Select item 1234896	NM_004113.6(FGF12):c.428-284C>G	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226927	NM_004113.6(FGF12):c.427+272C>T	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252535	NM_004113.6(FGF12):c.427+249C>G	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296315	NM_004113.6(FGF12):c.427+217A>G	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222438	NM_004113.6(FGF12):c.427+182G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249731	NM_004113.6(FGF12):c.427+173del	FGF12	Deletion (intron variant)	not provided	GBenign
Select item 1266009	NM_004113.6(FGF12):c.427+165T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300910	NM_004113.6(FGF12):c.427+143A>G	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234571	NM_004113.6(FGF12):c.427+124G>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297209	NM_004113.6(FGF12):c.427+77C>T	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1602402	NM_004113.6(FGF12):c.427+16_427+19del	FGF12	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1542967	NM_004113.6(FGF12):c.427+19G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1396899	NM_004113.6(FGF12):c.422T>C (p.Ile141Thr)	FGF12 (I104T +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1420834	NM_004113.6(FGF12):c.421A>G (p.Ile141Val)	FGF12 (I104V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548253	NM_004113.6(FGF12):c.414G>A (p.Pro138=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597159	NM_004113.6(FGF12):c.403C>T (p.His135Tyr)	FGF12 (H111Y +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1546638	NM_004113.6(FGF12):c.384G>A (p.Lys128=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696456	NM_004113.6(FGF12):c.372del (p.Asn125fs)	FGF12 (N88fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2814729	NM_004113.6(FGF12):c.371G>C (p.Gly124Ala)	FGF12 (G87A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466203	NM_004113.6(FGF12):c.365T>C (p.Met122Thr)	FGF12 (M122T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584544	NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)	FGF12 (G114E +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47	GLikely pathogenic
Select item 1438920	NM_004113.6(FGF12):c.325C>T (p.Arg109Ter)	FGF12 (R85* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1518682	NM_004113.6(FGF12):c.322G>C (p.Gly108Arg)	FGF12 (G84R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541227	NM_004113.6(FGF12):c.321A>G (p.Ser107=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417636	NM_004113.6(FGF12):c.308G>A (p.Arg103His)	FGF12 (R165H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438786	NM_004113.6(FGF12):c.307C>T (p.Arg103Cys)	FGF12 (R103C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654355	NM_004113.6(FGF12):c.306C>T (p.Tyr102=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853784	NM_004113.6(FGF12):c.305A>G (p.Tyr102Cys)	FGF12 (Y65C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751117	NM_004113.6(FGF12):c.303G>A (p.Leu101=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989589	NM_004113.6(FGF12):c.301C>T (p.Leu101=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160681	NM_004113.6(FGF12):c.299C>T (p.Thr100Ile)	FGF12 (T162I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656939	NM_004113.6(FGF12):c.279C>T (p.Tyr93=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765972	NM_004113.6(FGF12):c.277T>C (p.Tyr93His)	FGF12 (Y155H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555237	NM_004113.6(FGF12):c.246A>G (p.Glu82=)	FGF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576134	NM_004113.6(FGF12):c.232G>C (p.Val78Leu)	FGF12 (V140L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521286	NM_004113.6(FGF12):c.232G>A (p.Val78Ile)	FGF12 (V41I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 766799	NM_004113.6(FGF12):c.229-6del	FGF12	Deletion (intron variant)	not provided	GBenign
Select item 1548117	NM_004113.6(FGF12):c.229-8dup	FGF12	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1206118	NM_004113.6(FGF12):c.229-7C>T	FGF12	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 47 +1 more	GBenign
Select item 1634061	NM_004113.6(FGF12):c.229-9_229-8insC	FGF12	Insertion (intron variant)	not provided	GLikely benign
Select item 1599298	NM_004113.6(FGF12):c.229-10_229-8del	FGF12	Deletion (intron variant)	not provided	GBenign
Select item 1241203	NM_004113.6(FGF12):c.229-9_229-8del	FGF12	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1206079	NM_004113.6(FGF12):c.229-8del	FGF12	Deletion (intron variant)	not provided +1 more	GBenign
Select item 707035	NM_004113.6(FGF12):c.229-9T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 707207	NM_004113.6(FGF12):c.229-10T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1667918	NM_004113.6(FGF12):c.229-20_229-19insGTC	FGF12	Insertion (intron variant)	not provided	GLikely benign
Select item 1612871	NM_004113.6(FGF12):c.229-21_229-19del	FGF12	Deletion (intron variant)	not provided	GLikely benign
Select item 1297208	NM_004113.6(FGF12):c.229-92G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296382	NM_004113.6(FGF12):c.229-125T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230185	NM_004113.6(FGF12):c.229-184C>A	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298267	NM_004113.6(FGF12):c.229-239G>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300825	NM_004113.6(FGF12):c.229-273C>T	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231905	NM_004113.6(FGF12):c.229-277G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187615	NM_004113.6(FGF12):c.228+208T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263423	NM_004113.6(FGF12):c.228+96T>C	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220766	NM_004113.6(FGF12):c.228+35G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1570984	NM_004113.6(FGF12):c.228+12G>A	FGF12	Single nucleotide variant (intron variant)	not provided	GLikely benign

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