GSE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 545214	NC_000016.10:g.(?_84593050)_(85516675_?)del	LOC121847997, LOC125177366 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 149753	GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3	C16orf74, CIBAR2 +72 more	Copy number gain	See cases	GLikely benign
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 58269	GRCh38/hg38 16q24.1(chr16:85568964-85843360)x1	C16orf74, COX4I1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 2313364	NM_014615.5(GSE1):c.12G>C (p.Met4Ile)	GSE1 (M4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102859	NM_014615.5(GSE1):c.16C>T (p.His6Tyr)	GSE1 (H6Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342782	NM_014615.5(GSE1):c.46C>T (p.Leu16Phe)	GSE1 (L16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590134	NM_014615.5(GSE1):c.55G>A (p.Ala19Thr)	GSE1 (A19T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349787	NM_014615.5(GSE1):c.56C>T (p.Ala19Val)	GSE1 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231896	NM_014615.5(GSE1):c.71C>T (p.Ala24Val)	GSE1 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282960	NM_014615.5(GSE1):c.79A>G (p.Asn27Asp)	GSE1 (N27D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298339	NM_014615.5(GSE1):c.82C>T (p.Pro28Ser)	GSE1 (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102893	NM_014615.5(GSE1):c.88A>G (p.Thr30Ala)	GSE1 (T30A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102892	NM_014615.5(GSE1):c.88A>C (p.Thr30Pro)	GSE1 (T30P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102844	NM_014615.5(GSE1):c.104A>G (p.Asn35Ser)	GSE1 (N35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223047	NM_014615.5(GSE1):c.109G>A (p.Ala37Thr)	GSE1 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253015	NM_014615.5(GSE1):c.137C>G (p.Thr46Ser)	GSE1 (T46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532702	NM_014615.5(GSE1):c.144C>T (p.Ser48=)	GSE1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2227556	NM_014615.5(GSE1):c.152C>T (p.Ser51Leu)	GSE1 (S51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646933	NM_014615.5(GSE1):c.171C>T (p.Ser57=)	GSE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3102863	NM_014615.5(GSE1):c.188C>T (p.Ala63Val)	GSE1 (A63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282966	NM_014615.5(GSE1):c.244G>A (p.Glu82Lys)	GSE1 (E82K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588758	NM_014615.5(GSE1):c.286C>T (p.Pro96Ser)	GSE1 (P23S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402473	NM_014615.5(GSE1):c.328G>A (p.Val110Ile)	GSE1 (V37I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282969	NM_014615.5(GSE1):c.386C>G (p.Thr129Ser)	GSE1 (T25S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234892	NM_014615.5(GSE1):c.404T>G (p.Val135Gly)	GSE1 (V31G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231144	NM_014615.5(GSE1):c.421C>T (p.Arg141Trp)	GSE1 (R37W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282977	NM_014615.5(GSE1):c.431C>T (p.Ala144Val)	GSE1 (A40V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356743	NM_014615.5(GSE1):c.449G>A (p.Ser150Asn)	GSE1 (S46N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245272	NM_014615.5(GSE1):c.449G>T (p.Ser150Ile)	GSE1 (S150I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362657	NM_014615.5(GSE1):c.463C>T (p.Arg155Cys)	GSE1 (R51C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102888	NM_014615.5(GSE1):c.478C>T (p.Pro160Ser)	GSE1 (P56S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324572	NM_014615.5(GSE1):c.482C>T (p.Pro161Leu)	GSE1 (P161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550448	NM_014615.5(GSE1):c.505G>A (p.Gly169Arg)	GSE1 (G169R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398037	NM_014615.5(GSE1):c.517C>G (p.Pro173Ala)	GSE1 (P173A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459957	NM_014615.5(GSE1):c.525C>G (p.His175Gln)	GSE1 (H175Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227233	NM_014615.5(GSE1):c.544C>G (p.Pro182Ala)	GSE1 (P109A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245175	NM_014615.5(GSE1):c.545C>T (p.Pro182Leu)	GSE1 (P109L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102889	NM_014615.5(GSE1):c.550G>A (p.Gly184Ser)	GSE1 (G111S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266139	NM_014615.5(GSE1):c.551G>T (p.Gly184Val)	GSE1 (G80V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102890	NM_014615.5(GSE1):c.553C>T (p.Leu185Phe)	GSE1 (L112F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274629	NM_014615.5(GSE1):c.553C>G (p.Leu185Val)	GSE1 (L185V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391805	NM_014615.5(GSE1):c.584G>A (p.Arg195His)	GSE1 (R91H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249449	NM_014615.5(GSE1):c.607C>T (p.Arg203Trp)	GSE1 (R130W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282957	NM_014615.5(GSE1):c.608G>C (p.Arg203Pro)	GSE1 (R99P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304096	NM_014615.5(GSE1):c.634A>C (p.Ser212Arg)	GSE1 (S108R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472522	NM_014615.5(GSE1):c.638C>T (p.Thr213Ile)	GSE1 (T213I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483130	NM_014615.5(GSE1):c.647A>T (p.Glu216Val)	GSE1 (E143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646934	NM_014615.5(GSE1):c.681C>T (p.Thr227=)	GSE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487956	NM_014615.5(GSE1):c.695G>A (p.Arg232His)	GSE1 (R128H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373504	NM_014615.5(GSE1):c.713C>T (p.Pro238Leu)	GSE1 (P134L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204845	NM_014615.5(GSE1):c.728C>T (p.Pro243Leu)	GSE1 (P170L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553033	NM_014615.5(GSE1):c.781C>G (p.Pro261Ala)	GSE1 (P157A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268745	NM_014615.5(GSE1):c.784C>A (p.His262Asn)	GSE1 (H262N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774509	NM_014615.5(GSE1):c.799A>T (p.Met267Leu)	GSE1 (M163L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349236	NM_014615.5(GSE1):c.805G>A (p.Asp269Asn)	GSE1 (D165N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354718	NM_014615.5(GSE1):c.833C>T (p.Ser278Phe)	GSE1 (S174F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569268	NM_014615.5(GSE1):c.840C>A (p.Phe280Leu)	GSE1 (F176L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174961	NM_014615.5(GSE1):c.887C>T (p.Ala296Val)	GSE1 (A192V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302311	NM_014615.5(GSE1):c.919C>T (p.Pro307Ser)	GSE1 (P203S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102894	NM_014615.5(GSE1):c.937T>G (p.Ser313Ala)	GSE1 (S209A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102895	NM_014615.5(GSE1):c.952C>G (p.Leu318Val)	GSE1 (L214V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102896	NM_014615.5(GSE1):c.965G>A (p.Arg322His)	GSE1 (R322H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777050	NM_014615.5(GSE1):c.976C>T (p.Leu326Phe)	GSE1 (L326F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3102897	NM_014615.5(GSE1):c.981C>A (p.Ser327Arg)	GSE1 (S223R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511679	NM_014615.5(GSE1):c.983C>T (p.Ala328Val)	GSE1 (A255V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620585	NM_014615.5(GSE1):c.1002C>G (p.Asp334Glu)	GSE1 (D334E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282956	NM_014615.5(GSE1):c.1018G>C (p.Glu340Gln)	GSE1 (E236Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646935	NM_014615.5(GSE1):c.1029CGAGCG[1] (p.339RE[5])	GSE1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 778618	NM_014615.5(GSE1):c.1029CGAGCG[2] (p.339RE[6])	GSE1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2400256	NM_014615.5(GSE1):c.1028G>A (p.Arg343His)	GSE1 (R239H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646936	NM_014615.5(GSE1):c.1029C>T (p.Arg343=)	GSE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102842	NM_014615.5(GSE1):c.1039C>T (p.Arg347Cys)	GSE1 (R274C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102843	NM_014615.5(GSE1):c.1046G>A (p.Arg349His)	GSE1 (R245H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385868	NM_014615.5(GSE1):c.1051C>T (p.Arg351Cys)	GSE1 (R278C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646937	NM_014615.5(GSE1):c.1065C>G (p.Arg355=)	GSE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316814	NM_014615.5(GSE1):c.1066G>A (p.Glu356Lys)	GSE1 (E252K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348813	NM_014615.5(GSE1):c.1088G>A (p.Arg363His)	GSE1 (R363H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102845	NM_014615.5(GSE1):c.1090G>A (p.Glu364Lys)	GSE1 (E364K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282955	NM_014615.5(GSE1):c.1094G>A (p.Arg365His)	GSE1 (R292H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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