ClinVar for Gene (Select 10395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3082698	NM_182643.3(DLC1):c.928G>A (p.Val310Ile)	DLC1 (V310I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082697	NM_182643.3(DLC1):c.865T>C (p.Ser289Pro)	DLC1 (S289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082696	NM_182643.3(DLC1):c.827G>A (p.Ser276Asn)	DLC1 (S276N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082695	NM_182643.3(DLC1):c.743G>T (p.Ser248Ile)	DLC1 (S248I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082693	NM_182643.3(DLC1):c.614C>T (p.Ala205Val)	DLC1 (A205V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082692	NM_182643.3(DLC1):c.542G>C (p.Arg181Thr)	DLC1 (R181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082690	NM_182643.3(DLC1):c.4019T>G (p.Phe1340Cys)	DLC1, LOC126860305 (F903C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082689	NM_182643.3(DLC1):c.3832G>A (p.Ala1278Thr)	DLC1 (A1278T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082687	NM_182643.3(DLC1):c.338A>C (p.Glu113Ala)	DLC1 (E113A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082685	NM_182643.3(DLC1):c.3150C>G (p.Asn1050Lys)	DLC1 (N530K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082684	NM_182643.3(DLC1):c.3021C>G (p.Ser1007Arg)	DLC1 (S615R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082683	NM_182643.3(DLC1):c.2807C>T (p.Ala936Val)	DLC1 (A416V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082682	NM_182643.3(DLC1):c.2690T>C (p.Leu897Pro)	DLC1 (L539P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082681	NM_182643.3(DLC1):c.2596C>T (p.Arg866Cys)	DLC1 (R429C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082680	NM_182643.3(DLC1):c.2114A>G (p.Glu705Gly)	DLC1 (E194G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082679	NM_182643.3(DLC1):c.2008C>G (p.Arg670Gly)	DLC1 (R278G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082678	NM_182643.3(DLC1):c.2000T>A (p.Leu667Gln)	DLC1 (L147Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082677	NM_182643.3(DLC1):c.1957A>G (p.Met653Val)	DLC1 (M247V +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082676	NM_182643.3(DLC1):c.1826C>A (p.Pro609His)	DLC1 (P217H +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082675	NM_182643.3(DLC1):c.1805G>T (p.Ser602Ile)	DLC1 (S199I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082674	NM_182643.3(DLC1):c.1758C>G (p.Ser586Arg)	DLC1 (S183R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082673	NM_182643.3(DLC1):c.173G>C (p.Cys58Ser)	DLC1 (C58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082672	NM_182643.3(DLC1):c.1591C>T (p.Pro531Ser)	DLC1 (P11S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082671	NM_182643.3(DLC1):c.1555C>T (p.His519Tyr)	DLC1 (H113Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082670	NM_182643.3(DLC1):c.152A>C (p.Asn51Thr)	DLC1 (N51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082669	NM_182643.3(DLC1):c.1206T>A (p.Asp402Glu)	DLC1 (D402E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082668	NM_182643.3(DLC1):c.1204G>C (p.Asp402His)	DLC1 (D402H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082667	NM_182643.3(DLC1):c.1168G>A (p.Val390Ile)	DLC1 (V390I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082665	NM_182643.3(DLC1):c.1142G>A (p.Gly381Asp)	DLC1 (G381D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3082664	NM_182643.3(DLC1):c.1040G>A (p.Arg347Gln)	DLC1 (R347Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063057	GRCh37/hg19 8p22(chr8:13356544-14659874)x3	C8orf48, DLC1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063048	GRCh37/hg19 8p22(chr8:13295342-14299171)x1	C8orf48, DLC1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3057869	NM_182643.3(DLC1):c.4542C>T (p.Ser1514=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	DLC1-related condition	GLikely benign
Select item 3055183	NM_182643.3(DLC1):c.2739G>A (p.Val913=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3053208	NM_182643.3(DLC1):c.1503-2A>C	DLC1	Single nucleotide variant (splice acceptor variant +1 more)	DLC1-related condition	GUncertain significance
Select item 3051377	NM_182643.3(DLC1):c.2214G>A (p.Thr738=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3047698	NM_182643.3(DLC1):c.1051C>T (p.Arg351Trp)	DLC1 (R351W)	Single nucleotide variant (missense variant +1 more)	DLC1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3047643	NM_182643.3(DLC1):c.1315-4dup	DLC1	Duplication (intron variant)	DLC1-related condition	GLikely benign
Select item 3046658	NM_182643.3(DLC1):c.4293-10G>C	DLC1	Single nucleotide variant (intron variant)	DLC1-related condition	GLikely benign
Select item 3044909	NM_182643.3(DLC1):c.3171C>T (p.Ala1057=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3041217	NM_182643.3(DLC1):c.*10C>G	DLC1	Single nucleotide variant (3 prime UTR variant +1 more)	DLC1-related condition	GLikely benign
Select item 3032483	NM_182643.3(DLC1):c.3741G>A (p.Arg1247=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3030571	NM_182643.3(DLC1):c.2277T>G (p.Val759=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3029951	NM_182643.3(DLC1):c.1572C>T (p.Asp524=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3029823	NM_182643.3(DLC1):c.1818C>T (p.His606=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition	GLikely benign
Select item 3016512	NM_182643.3(DLC1):c.2126A>G (p.Lys709Arg)	DLC1 (K189R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016509	NM_182643.3(DLC1):c.2677G>T (p.Asp893Tyr)	DLC1 (D373Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003265	NM_182643.3(DLC1):c.2083A>G (p.Ser695Gly)	DLC1 (S175G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996200	NM_182643.3(DLC1):c.677T>C (p.Leu226Pro)	DLC1 (L226P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974120	NM_182643.3(DLC1):c.2331G>A (p.Glu777=)	DLC1	Single nucleotide variant (synonymous variant)	DLC1-related condition +1 more	GLikely benign
Select item 2917667	NM_182643.3(DLC1):c.2991-8T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911688	NM_182643.3(DLC1):c.3916A>G (p.Thr1306Ala)	DLC1, LOC126860305 (T869A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2911165	NM_182643.3(DLC1):c.2168G>A (p.Arg723His)	DLC1 (R203H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906067	NM_182643.3(DLC1):c.2058G>A (p.Ala686=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900460	NM_182643.3(DLC1):c.2363A>G (p.Asn788Ser)	DLC1 (N268S +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2897087	NM_182643.3(DLC1):c.1784G>A (p.Arg595His)	DLC1 (R203H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892949	NM_182643.3(DLC1):c.1167C>T (p.His389=)	DLC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2892527	NM_182643.3(DLC1):c.3821C>A (p.Ala1274Asp)	DLC1 (A1274D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889332	NM_182643.3(DLC1):c.3690G>A (p.Ala1230=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880534	NM_182643.3(DLC1):c.3856-8C>T	DLC1, LOC126860305	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879179	NM_182643.3(DLC1):c.1992G>A (p.Thr664=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876848	NM_182643.3(DLC1):c.2991-19del	DLC1	Deletion (intron variant)	not provided	GLikely benign
Select item 2876777	NM_182643.3(DLC1):c.3167+14T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876642	NM_182643.3(DLC1):c.1163G>A (p.Arg388Gln)	DLC1 (R388Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2875046	NM_182643.3(DLC1):c.2232C>A (p.Ser744Arg)	DLC1 (S224R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873208	NM_182643.3(DLC1):c.3167+18C>A	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872906	NM_182643.3(DLC1):c.2621G>A (p.Ser874Asn)	DLC1 (S482N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872388	NM_182643.3(DLC1):c.3397A>G (p.Ile1133Val)	DLC1 (I1133V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871343	NM_182643.3(DLC1):c.1965C>T (p.Gly655=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871280	NM_182643.3(DLC1):c.3947A>G (p.Asp1316Gly)	DLC1, LOC126860305 (D879G +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870830	NM_182643.3(DLC1):c.1732C>A (p.Pro578Thr)	DLC1 (P172T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870829	NM_182643.3(DLC1):c.1899T>C (p.Asn633=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870598	NM_182643.3(DLC1):c.3903G>T (p.Glu1301Asp)	DLC1, LOC126860305 (E909D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870013	NM_182643.3(DLC1):c.1349-3T>C	DLC1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2869505	NM_182643.3(DLC1):c.14T>A (p.Ile5Asn)	DLC1 (I5N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868729	NM_182643.3(DLC1):c.1565G>A (p.Arg522Gln)	DLC1 (R119Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868646	NM_182643.3(DLC1):c.3740+16G>T	DLC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2866292	NM_182643.3(DLC1):c.2810T>C (p.Leu937Pro)	DLC1 (L426P +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2866291	NM_182643.3(DLC1):c.3743T>A (p.Val1248Glu)	DLC1 (V842E +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2865888	NM_182643.3(DLC1):c.3029G>A (p.Arg1010Gln)	DLC1 (R1010Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865592	NM_182643.3(DLC1):c.3327+17C>T	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865384	NM_182643.3(DLC1):c.1315-16G>C	DLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2863595	NM_182643.3(DLC1):c.3617A>G (p.Tyr1206Cys)	DLC1 (Y769C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858834	NM_182643.3(DLC1):c.1927C>G (p.Pro643Ala)	DLC1 (P123A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851550	NM_182643.3(DLC1):c.2347A>G (p.Asn783Asp)	DLC1 (N346D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848865	NM_182643.3(DLC1):c.1031G>A (p.Arg344Lys)	DLC1 (R344K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841958	NM_182643.3(DLC1):c.3009C>G (p.His1003Gln)	DLC1 (H492Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840613	NM_182643.3(DLC1):c.2658C>T (p.Ile886=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807842	NM_182643.3(DLC1):c.3847C>A (p.Leu1283Ile)	DLC1 (L846I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805438	NM_182643.3(DLC1):c.542G>T (p.Arg181Ile)	DLC1 (R181I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2802595	NM_182643.3(DLC1):c.1173+17C>G	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790526	NM_182643.3(DLC1):c.2540G>A (p.Gly847Asp)	DLC1 (G336D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784302	NM_182643.3(DLC1):c.3741-20C>G	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783280	NM_182643.3(DLC1):c.4449G>T (p.Met1483Ile)	DLC1 (M1046I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2779127	NM_182643.3(DLC1):c.2152G>A (p.Ala718Thr)	DLC1 (A718T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778670	NM_182643.3(DLC1):c.1849C>T (p.Arg617Trp)	DLC1 (R211W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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