6530[geneid] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
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 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 3165444	NM_001172501.3(SLC6A2):c.11C>A (p.Ala4Glu)	SLC6A2 (A4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2057794	NM_001172501.3(SLC6A2):c.21C>A (p.Asn7Lys)	SLC6A2 (N7K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2211723	NM_001172501.3(SLC6A2):c.35C>T (p.Pro12Leu)	SLC6A2 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468832	NM_001172501.3(SLC6A2):c.64G>C (p.Glu22Gln)	SLC6A2 (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234624	NM_001172501.3(SLC6A2):c.86A>G (p.Lys29Arg)	SLC6A2 (K29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541950	NM_001172501.3(SLC6A2):c.87A>C (p.Lys29Asn)	SLC6A2 (K29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757036	NM_001172501.3(SLC6A2):c.111G>A (p.Lys37=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727851	NM_001172501.3(SLC6A2):c.117C>T (p.Arg39=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2345565	NM_001172501.3(SLC6A2):c.118A>T (p.Asn40Tyr)	SLC6A2 (N40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747265	NM_001172501.3(SLC6A2):c.120C>T (p.Asn40=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1251043	NM_001172501.3(SLC6A2):c.274+4030G>C	SLC6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247089	NM_001172501.3(SLC6A2):c.274+4288C>G	SLC6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778123	NM_001172501.3(SLC6A2):c.296C>T (p.Thr99Ile)	SLC6A2 (T99I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1297547	NM_001172501.3(SLC6A2):c.407-90T>G	SLC6A2 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2646538	NM_001172501.3(SLC6A2):c.407-65C>T	SLC6A2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3038037	NM_001172501.3(SLC6A2):c.407-29C>T	SLC6A2	Single nucleotide variant (synonymous variant +1 more)	SLC6A2-related disorder	GLikely benign
Select item 734561	NM_001172501.3(SLC6A2):c.426C>T (p.Ile142=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310232	NM_001172501.3(SLC6A2):c.548C>G (p.Pro183Arg)	SLC6A2 (P78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259896	NM_001172501.3(SLC6A2):c.568C>T (p.Leu190Phe)	SLC6A2 (L190F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746626	NM_001172501.3(SLC6A2):c.582C>T (p.Ser194=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479844	NM_001172501.3(SLC6A2):c.593A>G (p.Asn198Ser)	SLC6A2 (N93S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728102	NM_001172501.3(SLC6A2):c.624G>A (p.Thr208=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3320143	NM_001172501.3(SLC6A2):c.631G>A (p.Ala211Thr)	SLC6A2 (A211T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165449	NM_001172501.3(SLC6A2):c.650G>T (p.Gly217Val)	SLC6A2 (G112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165450	NM_001172501.3(SLC6A2):c.667G>A (p.Glu223Lys)	SLC6A2 (E223K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399910	NM_001172501.3(SLC6A2):c.671G>A (p.Ser224Asn)	SLC6A2 (S224N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739304	NM_001172501.3(SLC6A2):c.690C>T (p.Ile230=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769421	NM_001172501.3(SLC6A2):c.733G>A (p.Val245Ile)	SLC6A2 (V140I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3320144	NM_001172501.3(SLC6A2):c.826G>A (p.Val276Met)	SLC6A2 (V171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793024	NM_001172501.3(SLC6A2):c.840T>C (p.His280=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799500	NM_001172501.3(SLC6A2):c.843C>T (p.Gly281=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287463	NM_001172501.3(SLC6A2):c.844G>A (p.Val282Ile)	SLC6A2 (V282I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 319797	NM_001172501.3(SLC6A2):c.848C>G (p.Thr283Arg)	SLC6A2 (T283R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306761	NM_001172501.3(SLC6A2):c.985T>C (p.Phe329Leu)	SLC6A2 (F224L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049763	NM_001172501.3(SLC6A2):c.1022+5G>C	SLC6A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 722992	NM_001172501.3(SLC6A2):c.1023G>A (p.Arg341=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050010	NM_001172501.3(SLC6A2):c.1032G>C (p.Leu344=)	SLC6A2	Single nucleotide variant (synonymous variant)	SLC6A2-related disorder	GLikely benign
Select item 2546283	NM_001172501.3(SLC6A2):c.1103T>C (p.Met368Thr)	SLC6A2 (M263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735077	NM_001172501.3(SLC6A2):c.1147+4G>A	SLC6A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2251217	NM_001172501.3(SLC6A2):c.1198G>A (p.Gly400Arg)	SLC6A2 (G400R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375946	NM_001172501.3(SLC6A2):c.1204A>G (p.Thr402Ala)	SLC6A2 (T402A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646539	NM_001172501.3(SLC6A2):c.1228G>A (p.Val410Ile)	SLC6A2 (V305I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728119	NM_001172501.3(SLC6A2):c.1245G>T (p.Leu415=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1283289	NM_001172501.3(SLC6A2):c.1287G>A (p.Thr429=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165445	NM_001172501.3(SLC6A2):c.1319G>A (p.Arg440Gln)	SLC6A2 (R335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335536	NM_001172501.3(SLC6A2):c.1330C>T (p.Leu444Phe)	SLC6A2 (L339F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784340	NM_001172501.3(SLC6A2):c.1368C>T (p.Leu456=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 14006	NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro)	SLC6A2 (A457P +1 more)	Single nucleotide variant (missense variant)	Neurocirculatory asthenia	GPathogenic
Select item 2255170	NM_001172501.3(SLC6A2):c.1385C>G (p.Thr462Ser)	SLC6A2 (T357S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282997	NM_001172501.3(SLC6A2):c.1389+9G>A	SLC6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319806	NM_001172501.3(SLC6A2):c.1401C>T (p.Tyr467=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750530	NM_001172501.3(SLC6A2):c.1410C>A (p.Thr470=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620804	NM_001172501.3(SLC6A2):c.1456C>G (p.Leu486Val)	SLC6A2 (L381V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318640	NM_001172501.3(SLC6A2):c.1471G>A (p.Gly491Arg)	SLC6A2 (G386R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289514	NM_001172501.3(SLC6A2):c.1546T>C (p.Tyr516His)	SLC6A2 (Y516H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426197	NM_001172501.3(SLC6A2):c.1584C>G (p.Phe528Leu)	SLC6A2 (F528L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468859	NM_001172501.3(SLC6A2):c.1594G>A (p.Val532Met)	SLC6A2 (V532M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320145	NM_001172501.3(SLC6A2):c.1640A>G (p.Asp547Gly)	SLC6A2 (D442G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165447	NM_001172501.3(SLC6A2):c.1765G>T (p.Ala589Ser)	SLC6A2 (A484S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771200	NM_001172501.3(SLC6A2):c.1779G>A (p.Thr593=)	SLC6A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374111	NM_001172501.3(SLC6A2):c.1798C>G (p.Leu600Val)	SLC6A2 (L495V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 319810	NM_001172501.3(SLC6A2):c.1801G>C (p.Val601Leu)	SLC6A2 (V601L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2247954	NM_001172501.3(SLC6A2):c.1813G>A (p.Asp605Asn)	SLC6A2 (D500N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738204	NM_001172501.3(SLC6A2):c.1826T>A (p.Phe609Tyr)	SLC6A2 (F504Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737399	NM_001172501.3(SLC6A2):c.1833G>A (p.Leu611=)	SLC6A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319817	NM_001172501.3(SLC6A2):c.*306C>T	SLC6A2	Single nucleotide variant (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319819	NM_001172501.3(SLC6A2):c.396_397dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319823	NM_001172501.3(SLC6A2):c.401_402insCA	SLC6A2	Insertion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319822	NM_001172501.3(SLC6A2):c.414_415dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 319821	NM_001172501.3(SLC6A2):c.*415dup	SLC6A2	Duplication (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GLikely benign
Select item 319824	NM_001172501.3(SLC6A2):c.414_415insC	SLC6A2	Insertion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319825	NM_001172501.3(SLC6A2):c.*416del	SLC6A2	Deletion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319834	NM_001172501.3(SLC6A2):c.919_921del	SLC6A2	Deletion (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 319838	NM_001172501.3(SLC6A2):c.*1017G>A	SLC6A2	Single nucleotide variant (3 prime UTR variant +1 more)	Neurocirculatory asthenia	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 1808166	GRCh37/hg19 16q12.2(chr16:55723839-56330832)x3	CES1, CES5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 96