ClinVar for Gene (Select 2859) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282383	NM_005301.5(GPR35):c.764G>A (p.Arg255His)	GPR35 (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282382	NM_005301.5(GPR35):c.583G>T (p.Val195Leu)	GPR35 (V195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282381	NM_005301.5(GPR35):c.260C>T (p.Pro87Leu)	GPR35, LOC122889014 (P87L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3101741	NM_005301.5(GPR35):c.881G>A (p.Ser294Asn)	GPR35 (S294N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101740	NM_005301.5(GPR35):c.719G>T (p.Arg240Leu)	GPR35 (R271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101739	NM_005301.5(GPR35):c.718C>T (p.Arg240Cys)	GPR35 (R240C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101738	NM_005301.5(GPR35):c.718C>A (p.Arg240Ser)	GPR35 (R240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101736	NM_005301.5(GPR35):c.698T>C (p.Leu233Pro)	GPR35 (L264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101735	NM_005301.5(GPR35):c.649C>T (p.Arg217Cys)	GPR35 (R217C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101734	NM_005301.5(GPR35):c.556G>A (p.Val186Met)	GPR35 (V186M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101733	NM_005301.5(GPR35):c.412G>A (p.Ala138Thr)	GPR35, LOC122889014 (A138T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101732	NM_005301.5(GPR35):c.406G>A (p.Val136Met)	GPR35, LOC122889014 (V136M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101731	NM_005301.5(GPR35):c.312C>G (p.Ile104Met)	GPR35, LOC122889014 (I104M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101730	NM_005301.5(GPR35):c.257C>T (p.Thr86Met)	GPR35, LOC122889014 (T117M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101728	NM_005301.5(GPR35):c.115A>G (p.Ser39Gly)	GPR35 (S39G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652093	NM_005301.5(GPR35):c.33C>T (p.Ser11=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615793	NM_005301.5(GPR35):c.77A>T (p.Tyr26Phe)	GPR35 (Y57F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612235	NM_005301.5(GPR35):c.527C>T (p.Pro176Leu)	GPR35 (P176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558603	NM_005301.5(GPR35):c.275C>T (p.Ser92Phe)	GPR35, LOC122889014 (S92F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512443	NM_005301.5(GPR35):c.362C>T (p.Pro121Leu)	GPR35, LOC122889014 (P152L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485845	NM_005301.5(GPR35):c.584T>C (p.Val195Ala)	GPR35 (V195A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478255	NM_005301.5(GPR35):c.200T>C (p.Leu67Pro)	GPR35, LOC122889014 (L98P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461487	NM_005301.5(GPR35):c.499C>T (p.Arg167Trp)	GPR35 (R167W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2395912	NM_005301.5(GPR35):c.767G>A (p.Arg256His)	GPR35 (R256H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391273	NM_005301.5(GPR35):c.352G>A (p.Val118Met)	GPR35, LOC122889014 (V118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382579	NM_005301.5(GPR35):c.724G>A (p.Ala242Thr)	GPR35 (A242T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367305	NM_005301.5(GPR35):c.188C>T (p.Ala63Val)	GPR35, LOC122889014 (A63V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366118	NM_005301.5(GPR35):c.401C>T (p.Ala134Val)	GPR35, LOC122889014 (A165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351613	NM_005301.5(GPR35):c.367C>T (p.Arg123Cys)	GPR35, LOC122889014 (R123C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325630	NM_005301.5(GPR35):c.334G>A (p.Val112Met)	GPR35, LOC122889014 (V112M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288977	NM_005301.5(GPR35):c.766C>T (p.Arg256Cys)	GPR35 (R287C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280245	NM_005301.5(GPR35):c.287A>T (p.Tyr96Phe)	GPR35, LOC122889014 (Y127F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251439	NM_005301.5(GPR35):c.703G>T (p.Val235Leu)	GPR35 (V235L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239085	NM_005301.5(GPR35):c.917T>A (p.Val306Glu)	GPR35 (V306E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808889	GRCh37/hg19 2q37.3(chr2:241402844-241572457)x3	ANKMY1, CAPN10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1711534	GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1	AGXT, ANKMY1 +39 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340707	GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1	AGXT, ANKMY1 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic
Select item 1340021	GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3	LOC100128563, MAB21L4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 1234784	NM_005301.5(GPR35):c.323C>T (p.Thr108Met)	GPR35, LOC122889014 (T108M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 929330	GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3	AGXT, ANKMY1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 814379	GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1	OR6B2, RNPEPL1 +35 more	Copy number loss	not provided	GPathogenic
Select item 814378	GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1	GAL3ST2, SNED1 +35 more	Copy number loss	not provided	GPathogenic
Select item 814374	GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3	ACKR3, AGXT +56 more	Copy number gain	not provided	GPathogenic
Select item 809210	GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1	GPC1, GPR35 +24 more	Copy number loss	not provided	GUncertain significance
Select item 791899	NM_005301.5(GPR35):c.226G>A (p.Val76Met)	GPR35, LOC122889014 (V76M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791125	NM_005301.5(GPR35):c.300G>A (p.Arg100=)	GPR35, LOC122889014	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790442	NM_005301.5(GPR35):c.123G>C (p.Ala41=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787247	NM_005301.5(GPR35):c.80T>C (p.Leu27Ser)	GPR35 (L27S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784590	NM_005301.5(GPR35):c.85G>A (p.Val29Ile)	GPR35 (V29I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783364	NM_005301.5(GPR35):c.477C>T (p.Gly159=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780371	NM_005301.5(GPR35):c.166C>T (p.Arg56Cys)	GPR35, LOC122889014 (R87C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778056	NM_005301.5(GPR35):c.666C>T (p.Asn222=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777143	NM_005301.5(GPR35):c.73G>A (p.Ala25Thr)	GPR35 (A25T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773667	NM_005301.5(GPR35):c.738C>T (p.Asn246=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773436	NM_005301.5(GPR35):c.376G>A (p.Gly126Arg)	GPR35, LOC122889014 (G126R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 762422	NM_005301.5(GPR35):c.555C>T (p.Ala185=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750262	NM_005301.5(GPR35):c.159G>A (p.Thr53=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728209	NM_005301.5(GPR35):c.258G>A (p.Thr86=)	GPR35, LOC122889014	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726939	NM_005301.5(GPR35):c.505A>G (p.Asn169Asp)	GPR35 (N200D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715950	NM_005301.5(GPR35):c.858G>A (p.Ala286=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708665	NM_005301.5(GPR35):c.678C>T (p.Phe226=)	GPR35	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 685889	GRCh37/hg19 2q37.3(chr2:241532872-241611345)x4	CAPN10, GPR35	Copy number gain	not provided	GUncertain significance
Select item 638101	GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1	AGXT, ANKMY1 +37 more	Copy number loss	See cases	GPathogenic
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 562671	GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1	AQP12B, ASB1 +59 more	Copy number loss	not provided	GPathogenic
Select item 562662	GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1	GPC1, ACKR3 +33 more	Copy number loss	not provided	GPathogenic
Select item 562659	GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1	GPC1, MAB21L4 +35 more	Copy number loss	not provided	GPathogenic
Select item 562657	GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1	AGXT, ANKMY1 +34 more	Copy number loss	not provided	GPathogenic
Select item 562656	GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1	AGXT, ANKMY1 +33 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2