ClinVar for Gene (Select 56919) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271870	NM_020162.4(DHX33):c.1544A>G (p.Lys515Arg)	DHX33 (K342R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271869	NM_020162.4(DHX33):c.116G>A (p.Gly39Asp)	DHX33 (G39D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271868	NM_020162.4(DHX33):c.215G>T (p.Arg72Leu)	DHX33 (R72L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3271867	NM_020162.4(DHX33):c.1214G>C (p.Arg405Thr)	DHX33 (R405T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271866	NM_020162.4(DHX33):c.1461G>C (p.Gln487His)	DHX33 (Q314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271865	NM_020162.4(DHX33):c.1066A>G (p.Ile356Val)	DHX33 (I356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271864	NM_020162.4(DHX33):c.125G>T (p.Gly42Val)	DHX33 (G42V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3082207	NM_020162.4(DHX33):c.718T>C (p.Ser240Pro)	DHX33 (S240P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082206	NM_020162.4(DHX33):c.566G>T (p.Ser189Ile)	DHX33 (S189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082205	NM_020162.4(DHX33):c.1867T>C (p.Cys623Arg)	DHX33 (C623R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082204	NM_020162.4(DHX33):c.1865G>A (p.Arg622His)	DHX33 (R449H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082203	NM_020162.4(DHX33):c.1805T>C (p.Ile602Thr)	DHX33 (I429T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082201	NM_020162.4(DHX33):c.1745A>C (p.Asn582Thr)	DHX33 (N582T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082200	NM_020162.4(DHX33):c.1718G>A (p.Gly573Asp)	DHX33 (G400D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082199	NM_020162.4(DHX33):c.1678A>G (p.Met560Val)	DHX33 (M560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082198	NM_020162.4(DHX33):c.1529T>C (p.Ile510Thr)	DHX33 (I337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082197	NM_020162.4(DHX33):c.1465A>G (p.Thr489Ala)	DHX33 (T489A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082196	NM_020162.4(DHX33):c.124G>A (p.Gly42Ser)	DHX33 (G42S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3082195	NM_020162.4(DHX33):c.1247G>A (p.Arg416Gln)	DHX33 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082194	NM_020162.4(DHX33):c.1205G>A (p.Arg402His)	DHX33 (R229H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063503	GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3	C1QBP, DERL2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2600377	NM_020162.4(DHX33):c.1622G>A (p.Arg541Gln)	DHX33 (R541Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2553024	NM_020162.4(DHX33):c.1299G>T (p.Glu433Asp)	DHX33 (E260D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541310	NM_020162.4(DHX33):c.871A>G (p.Ile291Val)	DHX33 (I291V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516462	NM_020162.4(DHX33):c.1246C>T (p.Arg416Trp)	DHX33 (R243W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493168	NM_020162.4(DHX33):c.1177C>T (p.Arg393Trp)	DHX33 (R220W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469199	NM_020162.4(DHX33):c.1979A>T (p.His660Leu)	DHX33 (H487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465370	NM_020162.4(DHX33):c.1178G>A (p.Arg393Gln)	DHX33 (R220Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458950	NM_020162.4(DHX33):c.1739A>T (p.Lys580Ile)	DHX33 (K407I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456986	NM_020162.4(DHX33):c.1409C>T (p.Ala470Val)	DHX33 (A297V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2411589	NM_020162.4(DHX33):c.770C>T (p.Pro257Leu)	DHX33 (P257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402534	NM_020162.4(DHX33):c.1700G>A (p.Arg567Gln)	DHX33 (R567Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401252	NM_020162.4(DHX33):c.35G>A (p.Arg12Lys)	DHX33 (R12K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399044	NM_020162.4(DHX33):c.877G>T (p.Val293Leu)	DHX33 (V293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391905	NM_020162.4(DHX33):c.1563G>T (p.Glu521Asp)	DHX33 (E348D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389846	NM_020162.4(DHX33):c.1897G>A (p.Ala633Thr)	DHX33 (A460T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370194	NM_020162.4(DHX33):c.1360G>A (p.Val454Met)	DHX33 (V281M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364084	NM_020162.4(DHX33):c.1887C>G (p.Phe629Leu)	DHX33 (F456L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355349	NM_020162.4(DHX33):c.1291G>A (p.Val431Met)	DHX33 (V258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322546	NM_020162.4(DHX33):c.1708A>C (p.Lys570Gln)	DHX33 (K397Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317142	NM_020162.4(DHX33):c.724T>C (p.Tyr242His)	DHX33 (Y242H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313103	NM_020162.4(DHX33):c.1828A>G (p.Ile610Val)	DHX33 (I610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303190	NM_020162.4(DHX33):c.1591G>C (p.Val531Leu)	DHX33 (V358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299852	NM_020162.4(DHX33):c.2024A>G (p.Asn675Ser)	DHX33 (N502S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295184	NM_020162.4(DHX33):c.1027G>T (p.Ala343Ser)	DHX33 (A343S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281595	NM_020162.4(DHX33):c.1462C>G (p.Leu488Val)	DHX33 (L315V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281109	NM_020162.4(DHX33):c.832G>A (p.Val278Ile)	DHX33 (V105I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278653	NM_020162.4(DHX33):c.1196C>G (p.Ala399Gly)	DHX33 (A226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269078	NM_020162.4(DHX33):c.920C>T (p.Thr307Met)	DHX33 (T134M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249254	NM_020162.4(DHX33):c.451G>A (p.Val151Ile)	DHX33 (V151I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219065	NM_020162.4(DHX33):c.1645C>T (p.Arg549Cys)	DHX33 (R549C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213294	NM_020162.4(DHX33):c.742G>C (p.Val248Leu)	DHX33 (V248L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204020	NM_020162.4(DHX33):c.1699C>T (p.Arg567Trp)	DHX33 (R567W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980143	GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3	RABEP1, RPAIN +6 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78