ClinVar for Gene (Select 55692) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292304	NM_201412.3(LUC7L):c.940C>T (p.Arg314Cys)	LUC7L (R314C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292303	NM_201412.3(LUC7L):c.1072A>G (p.Met358Val)	LUC7L (M358V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292301	NM_201412.3(LUC7L):c.337G>C (p.Glu113Gln)	LUC7L (E113Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3121541	NM_201412.3(LUC7L):c.959G>A (p.Arg320Gln)	LUC7L (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121540	NM_201412.3(LUC7L):c.892A>G (p.Arg298Gly)	LUC7L (R245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121539	NM_201412.3(LUC7L):c.854G>A (p.Arg285Gln)	LUC7L (R285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121538	NM_201412.3(LUC7L):c.700G>A (p.Glu234Lys)	LUC7L (E181K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121537	NM_201412.3(LUC7L):c.470T>C (p.Met157Thr)	LUC7L (M104T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121536	NM_201412.3(LUC7L):c.426G>T (p.Gln142His)	LUC7L (Q89H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121535	NM_201412.3(LUC7L):c.253G>T (p.Asp85Tyr)	LUC7L (D32Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121534	NM_201412.3(LUC7L):c.1081C>T (p.Arg361Trp)	LUC7L (R361W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3056892	NM_201412.3(LUC7L):c.938A>G (p.His313Arg)	LUC7L (H260R +1 more)	Single nucleotide variant (missense variant)	LUC7L-related disorder	GBenign
Select item 3049261	NM_201412.3(LUC7L):c.360T>A (p.Ser120=)	LUC7L	Single nucleotide variant (synonymous variant)	LUC7L-related disorder	GLikely benign
Select item 3042979	NM_201412.3(LUC7L):c.618G>A (p.Leu206=)	LUC7L	Single nucleotide variant (synonymous variant)	LUC7L-related disorder	GLikely benign
Select item 3037946	NM_201412.3(LUC7L):c.941G>A (p.Arg314His)	LUC7L (R261H +1 more)	Single nucleotide variant (missense variant)	LUC7L-related disorder	GLikely benign
Select item 2685538	GRCh37/hg19 16p13.3(chr16:254059-306243)x1	FAM234A, LUC7L	Copy number loss	not provided	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2616256	NM_201412.3(LUC7L):c.1043A>C (p.Asp348Ala)	LUC7L (D348A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2568813	NM_201412.3(LUC7L):c.992C>T (p.Ala331Val)	LUC7L (A331V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2528486	NM_201412.3(LUC7L):c.1111A>G (p.Ile371Val)	LUC7L (I371V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2463936	NM_201412.3(LUC7L):c.179C>T (p.Thr60Ile)	LUC7L (T60I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2399606	NM_201412.3(LUC7L):c.281T>C (p.Ile94Thr)	LUC7L (I41T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384893	NM_201412.3(LUC7L):c.448G>A (p.Asp150Asn)	LUC7L (D150N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366996	NM_201412.3(LUC7L):c.773G>A (p.Arg258Lys)	LUC7L (R205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341558	NM_201412.3(LUC7L):c.229G>A (p.Glu77Lys)	LUC7L (E77K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237895	NM_201412.3(LUC7L):c.919C>T (p.Arg307Trp)	LUC7L (R307W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226829	NM_201412.3(LUC7L):c.1006T>G (p.Ser336Ala)	LUC7L (S336A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224789	NM_201412.3(LUC7L):c.965C>T (p.Ala322Val)	LUC7L (A322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809509	GRCh37/hg19 16p13.3(chr16:204932-313258)x3	FAM234A, HBA1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808170	GRCh37/hg19 16p13.3(chr16:106989-293949)x1	FAM234A, HBA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687911	GRCh37/hg19 16p13.3(chr16:259506-401213)x3	ARHGDIG, AXIN1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 686928	GRCh37/hg19 16p13.3(chr16:232111-378473)x3	ARHGDIG, AXIN1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 564250	GRCh37/hg19 16p13.3(chr16:85880-294656)x1	SNRNP25, HBA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
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 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 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 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 394771	GRCh37/hg19 16p13.3(chr16:113746-240243)x3	HBA1, HBA2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253807	GRCh37/hg19 16p13.3(chr16:216724-340009)x3	HBA2, HBM +8 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221507	GRCh37/hg19 16p13.3(chr16:97494-323799)x3	HBA2, HBM +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	ARHGDIG, AXIN1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 15680	NC_000016.10:g.174045_192395del	HBA1, HBA2 +5 more	Deletion	Alpha-thalassemia, zf type	GPathogenic

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Links from Gene

Items: 94