ClinVar for Gene (Select 23544) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160763	NM_021115.5(SEZ6L):c.8C>T (p.Ala3Val)	SEZ6L (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160762	NM_021115.5(SEZ6L):c.887A>G (p.Asp296Gly)	SEZ6L (D296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160761	NM_021115.5(SEZ6L):c.877G>T (p.Asp293Tyr)	SEZ6L (D293Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160760	NM_021115.5(SEZ6L):c.592G>A (p.Ala198Thr)	SEZ6L (A198T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160758	NM_021115.5(SEZ6L):c.587C>G (p.Thr196Arg)	SEZ6L (T196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160757	NM_021115.5(SEZ6L):c.581C>G (p.Pro194Arg)	SEZ6L (P194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160756	NM_021115.5(SEZ6L):c.534G>T (p.Glu178Asp)	SEZ6L (E178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160755	NM_021115.5(SEZ6L):c.305T>C (p.Leu102Pro)	SEZ6L (L102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160754	NM_021115.5(SEZ6L):c.3016G>A (p.Glu1006Lys)	LOC121853039, SEZ6L (E1005K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160753	NM_021115.5(SEZ6L):c.283G>A (p.Asp95Asn)	SEZ6L (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160752	NM_021115.5(SEZ6L):c.2837C>A (p.Ala946Glu)	SEZ6L (A946E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160751	NM_021115.5(SEZ6L):c.2741G>A (p.Arg914His)	SEZ6L (R850H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160750	NM_021115.5(SEZ6L):c.269C>T (p.Pro90Leu)	SEZ6L (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160748	NM_021115.5(SEZ6L):c.2556A>C (p.Glu852Asp)	SEZ6L (E852D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160747	NM_021115.5(SEZ6L):c.2357C>T (p.Thr786Ile)	SEZ6L (T786I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160746	NM_021115.5(SEZ6L):c.2332G>A (p.Asp778Asn)	SEZ6L (D778N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160745	NM_021115.5(SEZ6L):c.1963A>G (p.Ile655Val)	SEZ6L (I655V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160744	NM_021115.5(SEZ6L):c.1955A>C (p.Glu652Ala)	SEZ6L (E652A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160743	NM_021115.5(SEZ6L):c.1936G>A (p.Glu646Lys)	SEZ6L (E646K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160742	NM_021115.5(SEZ6L):c.1766T>A (p.Ile589Lys)	SEZ6L (I589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160741	NM_021115.5(SEZ6L):c.1652C>T (p.Ala551Val)	SEZ6L (A551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160740	NM_021115.5(SEZ6L):c.1531G>A (p.Gly511Arg)	SEZ6L (G511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160739	NM_021115.5(SEZ6L):c.1142C>A (p.Thr381Asn)	SEZ6L (T381N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160737	NM_021115.5(SEZ6L):c.106G>A (p.Glu36Lys)	SEZ6L (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653008	NM_021115.5(SEZ6L):c.1560C>T (p.Tyr520=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623549	NM_021115.5(SEZ6L):c.44C>G (p.Ser15Trp)	SEZ6L (S15W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618156	NM_021115.5(SEZ6L):c.887A>T (p.Asp296Val)	SEZ6L (D296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616141	NM_021115.5(SEZ6L):c.1285A>G (p.Lys429Glu)	SEZ6L (K429E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611539	NM_021115.5(SEZ6L):c.823G>A (p.Glu275Lys)	SEZ6L (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594968	NM_021115.5(SEZ6L):c.2486C>T (p.Thr829Ile)	SEZ6L (T829I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590253	NM_021115.5(SEZ6L):c.529G>A (p.Glu177Lys)	SEZ6L (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545104	NM_021115.5(SEZ6L):c.776A>G (p.Gln259Arg)	SEZ6L (Q259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536703	NM_021115.5(SEZ6L):c.262A>G (p.Thr88Ala)	SEZ6L (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525991	NM_021115.5(SEZ6L):c.2663A>C (p.Lys888Thr)	SEZ6L (K888T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522069	NM_021115.5(SEZ6L):c.2777C>A (p.Pro926His)	SEZ6L (P926H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512151	NM_021115.5(SEZ6L):c.1634C>T (p.Thr545Met)	SEZ6L (T545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494046	NM_021115.5(SEZ6L):c.727A>T (p.Met243Leu)	SEZ6L (M243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491828	NM_021115.5(SEZ6L):c.673G>T (p.Gly225Trp)	SEZ6L (G225W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488601	NM_021115.5(SEZ6L):c.754G>A (p.Gly252Arg)	SEZ6L (G252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470916	NM_021115.5(SEZ6L):c.2596G>A (p.Val866Ile)	SEZ6L (V866I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470842	NM_021115.5(SEZ6L):c.344C>G (p.Pro115Arg)	SEZ6L (P115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424298	NC_000022.10:g.(?_26142492)_(27026451_?)del	ASPHD2, CRYBA4 +7 more	Deletion	Cataract 23	GUncertain significance
Select item 2390842	NM_021115.5(SEZ6L):c.2861G>T (p.Gly954Val)	SEZ6L (G941V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385818	NM_021115.5(SEZ6L):c.886G>A (p.Asp296Asn)	SEZ6L (D296N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368493	NM_021115.5(SEZ6L):c.1994G>A (p.Arg665Gln)	SEZ6L (R665Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359060	NM_021115.5(SEZ6L):c.694G>T (p.Ala232Ser)	SEZ6L (A232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356463	NM_021115.5(SEZ6L):c.1388G>A (p.Arg463His)	SEZ6L (R463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342345	NM_021115.5(SEZ6L):c.373G>A (p.Val125Met)	SEZ6L (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342204	NM_021115.5(SEZ6L):c.2056G>A (p.Gly686Ser)	SEZ6L (G686S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327126	NM_021115.5(SEZ6L):c.1648C>T (p.Arg550Trp)	SEZ6L (R550W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324580	NM_021115.5(SEZ6L):c.2545T>C (p.Tyr849His)	SEZ6L (Y849H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311396	NM_021115.5(SEZ6L):c.1082G>A (p.Arg361Gln)	SEZ6L (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302180	NM_021115.5(SEZ6L):c.282C>G (p.His94Gln)	SEZ6L (H94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294259	NM_021115.5(SEZ6L):c.1904T>C (p.Val635Ala)	SEZ6L (V635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280396	NM_021115.5(SEZ6L):c.206C>T (p.Ala69Val)	SEZ6L (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259838	NM_021115.5(SEZ6L):c.1811C>T (p.Pro604Leu)	SEZ6L (P604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256731	NM_021115.5(SEZ6L):c.16C>A (p.Pro6Thr)	SEZ6L (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249206	NM_021115.5(SEZ6L):c.2819C>T (p.Ala940Val)	SEZ6L (A940V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242805	NM_021115.5(SEZ6L):c.1405T>C (p.Tyr469His)	SEZ6L (Y469H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241367	NM_021115.5(SEZ6L):c.3044G>A (p.Gly1015Glu)	LOC121853039, SEZ6L (G1014E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234249	NM_021115.5(SEZ6L):c.2100C>G (p.Asn700Lys)	SEZ6L (N700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218413	NM_021115.5(SEZ6L):c.2279A>T (p.His760Leu)	SEZ6L (H760L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216621	NM_021115.5(SEZ6L):c.2053G>A (p.Asp685Asn)	SEZ6L (D685N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210492	NM_021115.5(SEZ6L):c.1115G>A (p.Arg372Gln)	SEZ6L (R372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209107	NM_021115.5(SEZ6L):c.2032A>G (p.Ser678Gly)	SEZ6L (S678G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204129	NM_021115.5(SEZ6L):c.1096A>G (p.Thr366Ala)	SEZ6L (T366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816215	GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1	HPS4, MIAT +11 more	Copy number loss	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 774969	NM_021115.5(SEZ6L):c.2217A>G (p.Val739=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774259	NM_021115.5(SEZ6L):c.1624A>G (p.Ile542Val)	SEZ6L (I542V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773617	NM_021115.5(SEZ6L):c.1659C>T (p.Ser553=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752128	NM_021115.5(SEZ6L):c.2599+10G>A	SEZ6L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747823	NM_021115.5(SEZ6L):c.207G>A (p.Ala69=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729223	NM_021115.5(SEZ6L):c.1622G>A (p.Arg541His)	SEZ6L (R541H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720634	NM_021115.5(SEZ6L):c.2394A>T (p.Pro798=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717984	NM_021115.5(SEZ6L):c.1576G>A (p.Glu526Lys)	SEZ6L (E526K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714838	NM_021115.5(SEZ6L):c.1038C>T (p.Thr346=)	SEZ6L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709708	NM_021115.5(SEZ6L):c.2706C>T (p.Tyr902=)	SEZ6L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709523	NM_021115.5(SEZ6L):c.3046-4G>A	SEZ6L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 161554	NM_021115.5(SEZ6L):c.778G>T (p.Glu260Ter)	SEZ6L (E260*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 161553	NM_021115.5(SEZ6L):c.1515-5G>A	SEZ6L	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 100