ClinVar for Gene (Select 10395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely benign
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	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	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
Select item 2775906	NM_182643.3(DLC1):c.3881G>A (p.Arg1294His)	DLC1, LOC126860305 (R888H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771789	NM_182643.3(DLC1):c.2184G>A (p.Met728Ile)	DLC1 (M728I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770333	NM_182643.3(DLC1):c.1420+16_1420+17delinsAG	DLC1	Indel (intron variant)	not provided	GUncertain significance
Select item 2765826	NM_182643.3(DLC1):c.4188G>T (p.Leu1396=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2764500	NM_182643.3(DLC1):c.3968A>T (p.His1323Leu)	DLC1, LOC126860305 (H803L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2761414	NM_182643.3(DLC1):c.2107A>T (p.Met703Leu)	DLC1 (M192L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758964	NM_182643.3(DLC1):c.4006G>C (p.Val1336Leu)	DLC1, LOC126860305 (V1336L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757517	NM_182643.3(DLC1):c.2604T>G (p.Ser868=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751733	NM_182643.3(DLC1):c.1914C>T (p.Gly638=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741674	NM_182643.3(DLC1):c.2057C>G (p.Ala686Gly)	DLC1 (A294G +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2728977	NM_182643.3(DLC1):c.2259C>A (p.Val753=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2727424	NM_182643.3(DLC1):c.2404C>G (p.Pro802Ala)	DLC1 (P365A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727295	NM_182643.3(DLC1):c.486C>T (p.Asn162=)	DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2721373	NM_182643.3(DLC1):c.1697C>A (p.Ser566Tyr)	DLC1 (S129Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716628	NM_182643.3(DLC1):c.1779C>A (p.Ser593=)	DLC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711849	NM_182643.3(DLC1):c.1730G>A (p.Ser577Asn)	DLC1 (S171N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707495	NM_182643.3(DLC1):c.500C>T (p.Ala167Val)	DLC1 (A167V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2704357	NM_182643.3(DLC1):c.4466+9T>C	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700442	NM_182643.3(DLC1):c.2843A>G (p.Lys948Arg)	DLC1 (K948R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695532	NM_182643.3(DLC1):c.3589A>G (p.Asn1197Asp)	DLC1 (N1197D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694236	NM_182643.3(DLC1):c.2991-20C>A	DLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684527	GRCh37/hg19 8p23.1-22(chr8:12560782-13948729)x3	C8orf48, DLC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658438	NM_001007090.3(C8orf48):c.948T>C (p.Asn316=)	C8orf48, DLC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658437	NM_001007090.3(C8orf48):c.656A>C (p.Lys219Thr)	C8orf48, DLC1 (K219T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658436	NM_001007090.3(C8orf48):c.227A>G (p.Tyr76Cys)	C8orf48, DLC1 (Y76C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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