ENGASE[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 2250179	NM_001042573.3(ENGASE):c.112G>A (p.Glu38Lys)	ENGASE, LOC130061870 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463807	NM_001042573.3(ENGASE):c.134G>C (p.Arg45Pro)	ENGASE, LOC130061870 (R45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379182	NM_001042573.3(ENGASE):c.179G>C (p.Arg60Pro)	ENGASE (R60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365748	NM_001042573.3(ENGASE):c.179G>A (p.Arg60Gln)	ENGASE (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088871	NM_001042573.3(ENGASE):c.197C>T (p.Ser66Phe)	ENGASE (S66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382845	NM_001042573.3(ENGASE):c.200C>T (p.Pro67Leu)	ENGASE (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459813	NM_001042573.3(ENGASE):c.284C>T (p.Ala95Val)	ENGASE (A95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624121	NM_001042573.3(ENGASE):c.323T>C (p.Leu108Pro)	ENGASE (L108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248134	NM_001042573.3(ENGASE):c.341G>A (p.Arg114His)	ENGASE (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088875	NM_001042573.3(ENGASE):c.346C>A (p.Pro116Thr)	ENGASE (P116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346272	NM_001042573.3(ENGASE):c.346C>G (p.Pro116Ala)	ENGASE (P116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711601	NM_001042573.3(ENGASE):c.390C>T (p.Asp130=)	ENGASE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2337985	NM_001042573.3(ENGASE):c.475G>A (p.Asp159Asn)	ENGASE (D159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253006	NM_001042573.3(ENGASE):c.478G>A (p.Val160Ile)	ENGASE (V160I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088876	NM_001042573.3(ENGASE):c.485T>G (p.Val162Gly)	ENGASE (V162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788611	NM_001042573.3(ENGASE):c.505G>A (p.Val169Ile)	ENGASE (V169I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3088877	NM_001042573.3(ENGASE):c.523G>A (p.Gly175Ser)	ENGASE (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459376	NM_001042573.3(ENGASE):c.578C>T (p.Thr193Met)	ENGASE (T193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088878	NM_001042573.3(ENGASE):c.650C>A (p.Ala217Asp)	ENGASE (A217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088879	NM_001042573.3(ENGASE):c.692G>C (p.Gly231Ala)	ENGASE (G231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088880	NM_001042573.3(ENGASE):c.716C>T (p.Ser239Leu)	ENGASE (S239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589433	NM_001042573.3(ENGASE):c.758G>A (p.Arg253Gln)	ENGASE (R253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088881	NM_001042573.3(ENGASE):c.782G>A (p.Arg261Gln)	ENGASE (R261Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538839	NM_001042573.3(ENGASE):c.856C>T (p.Leu286Phe)	ENGASE (L286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088882	NM_001042573.3(ENGASE):c.919C>T (p.Arg307Trp)	ENGASE (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401982	NM_001042573.3(ENGASE):c.958G>C (p.Glu320Gln)	ENGASE (E320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361944	NM_001042573.3(ENGASE):c.965G>A (p.Arg322Gln)	ENGASE (R322Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285710	NM_001042573.3(ENGASE):c.976T>C (p.Tyr326His)	ENGASE (Y326H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088883	NM_001042573.3(ENGASE):c.985G>A (p.Val329Met)	ENGASE (V329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341041	NM_001042573.3(ENGASE):c.1001G>A (p.Arg334Gln)	ENGASE (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357258	NM_001042573.3(ENGASE):c.1055G>A (p.Arg352Gln)	ENGASE (R352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088859	NM_001042573.3(ENGASE):c.1114A>G (p.Lys372Glu)	ENGASE (K372E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648385	NM_001042573.3(ENGASE):c.1116G>A (p.Lys372=)	ENGASE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247506	NM_001042573.3(ENGASE):c.1163G>A (p.Arg388His)	ENGASE (R388H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517599	NM_001042573.3(ENGASE):c.1201G>A (p.Val401Ile)	ENGASE (V464I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088860	NM_001042573.3(ENGASE):c.1205C>T (p.Thr402Met)	ENGASE (T402M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088861	NM_001042573.3(ENGASE):c.1232G>A (p.Arg411Gln)	ENGASE (R474Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209999	NM_001042573.3(ENGASE):c.1247G>T (p.Gly416Val)	ENGASE (G479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522800	NM_001042573.3(ENGASE):c.1252G>C (p.Glu418Gln)	ENGASE (E481Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250668	NM_001042573.3(ENGASE):c.1254A>C (p.Glu418Asp)	ENGASE (E418D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368020	NM_001042573.3(ENGASE):c.1261G>A (p.Val421Ile)	ENGASE (V484I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088862	NM_001042573.3(ENGASE):c.1273T>C (p.Tyr425His)	ENGASE (Y488H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509221	NM_001042573.3(ENGASE):c.1280T>G (p.Leu427Arg)	ENGASE (L427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512806	NM_001042573.3(ENGASE):c.1305G>C (p.Leu435Phe)	ENGASE (L498F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296252	NM_001042573.3(ENGASE):c.1312G>A (p.Glu438Lys)	ENGASE (E438K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476086	NM_001042573.3(ENGASE):c.1355A>G (p.His452Arg)	ENGASE (H452R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366784	NM_001042573.3(ENGASE):c.1399G>A (p.Val467Ile)	ENGASE (V530I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341723	NM_001042573.3(ENGASE):c.1418C>T (p.Pro473Leu)	ENGASE (P473L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525112	NM_001042573.3(ENGASE):c.1449T>G (p.Phe483Leu)	ENGASE (F483L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088863	NM_001042573.3(ENGASE):c.1474A>G (p.Lys492Glu)	ENGASE (K555E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328765	NM_001042573.3(ENGASE):c.1483C>G (p.Leu495Val)	ENGASE (L495V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088864	NM_001042573.3(ENGASE):c.1555G>A (p.Gly519Ser)	ENGASE (G519S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344550	NM_001042573.3(ENGASE):c.1574G>A (p.Gly525Asp)	ENGASE (G525D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088865	NM_001042573.3(ENGASE):c.1624C>T (p.Leu542Phe)	ENGASE (L542F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789847	NM_001042573.3(ENGASE):c.1664G>A (p.Arg555His)	ENGASE (R555H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2248399	NM_001042573.3(ENGASE):c.1696C>G (p.Gln566Glu)	ENGASE (Q565E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088866	NM_001042573.3(ENGASE):c.1763C>T (p.Pro588Leu)	ENGASE (P588L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088867	NM_001042573.3(ENGASE):c.1774C>T (p.Arg592Trp)	ENGASE (R592W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088868	NM_001042573.3(ENGASE):c.1864G>A (p.Val622Ile)	ENGASE (V685I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379594	NM_001042573.3(ENGASE):c.1882C>T (p.Arg628Cys)	ENGASE (R627C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314347	NM_001042573.3(ENGASE):c.1883G>A (p.Arg628His)	ENGASE (R628H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733441	NM_001042573.3(ENGASE):c.1896C>T (p.Ser632=)	ENGASE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088869	NM_001042573.3(ENGASE):c.1906C>T (p.Arg636Trp)	ENGASE (R635W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527033	NM_001042573.3(ENGASE):c.1915C>T (p.Pro639Ser)	ENGASE (P638S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594035	NM_001042573.3(ENGASE):c.1967C>T (p.Ser656Leu)	ENGASE (S719L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337321	NM_001042573.3(ENGASE):c.1970A>G (p.Gln657Arg)	ENGASE (Q722R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088870	NM_001042573.3(ENGASE):c.1972G>A (p.Val658Ile)	ENGASE (V657I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612416	NM_001042573.3(ENGASE):c.2048T>C (p.Met683Thr)	ENGASE (M683T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088872	NM_001042573.3(ENGASE):c.2059C>G (p.Leu687Val)	ENGASE (L687V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351845	NM_001042573.3(ENGASE):c.2074G>A (p.Ala692Thr)	ENGASE (A755T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088873	NM_001042573.3(ENGASE):c.2077A>T (p.Thr693Ser)	ENGASE (T693S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239203	NM_001042573.3(ENGASE):c.2086C>T (p.Arg696Trp)	ENGASE (R761W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241568	NM_001042573.3(ENGASE):c.2116G>A (p.Gly706Arg)	ENGASE (G705R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364128	NM_001042573.3(ENGASE):c.2177G>A (p.Arg726Gln)	ENGASE (R791Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684858	GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Pityriasis rubra pilaris +1 more	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526587	GRCh37/hg19 17q25.3(chr17:76770309-77174429)	C1QTNF1, CANT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340469	GRCh37/hg19 17q25.3(chr17:76852379-77297300)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980730	GRCh37/hg19 17q25.3(chr17:76852029-77297898)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 686505	GRCh37/hg19 17q25.3(chr17:77067571-77979203)x3	CBX2, CBX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686455	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686443	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564477	GRCh37/hg19 17q25.3(chr17:76676371-77287185)x3	CANT1, CYTH1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564475	GRCh37/hg19 17q25.3(chr17:76470653-77095130)x4	DNAH17, TIMP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2