ClinVar for Gene (Select 90933) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2656162	NM_033549.5(TRIM41):c.1653C>T (p.Cys551=)	TRIM41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622439	NM_033549.5(TRIM41):c.595C>G (p.Leu199Val)	TRIM41 (L199V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607731	NM_033549.5(TRIM41):c.473A>G (p.Glu158Gly)	TRIM41 (E158G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559610	NM_033549.5(TRIM41):c.637C>T (p.Pro213Ser)	TRIM41 (P213S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553387	NM_033549.5(TRIM41):c.918G>C (p.Met306Ile)	TRIM41 (M306I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546248	NM_033549.5(TRIM41):c.331G>A (p.Gly111Ser)	TRIM41 (G111S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507855	NM_033549.5(TRIM41):c.1046C>T (p.Ala349Val)	TRIM41 (A349V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492204	NM_033549.5(TRIM41):c.1541G>A (p.Gly514Asp)	TRIM41 (G514D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489411	NM_033549.5(TRIM41):c.799G>A (p.Val267Met)	TRIM41 (V267M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461762	NM_033549.5(TRIM41):c.1732C>T (p.Arg578Cys)	TRIM41 (R578C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457600	NM_033549.5(TRIM41):c.1372C>T (p.Arg458Trp)	TRIM41 (R458W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407771	NM_033549.5(TRIM41):c.1402C>T (p.Arg468Cys)	TRIM41 (R468C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404454	NM_033549.5(TRIM41):c.1085G>A (p.Arg362His)	TRIM41 (R362H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380782	NM_033549.5(TRIM41):c.1351C>T (p.Arg451Trp)	TRIM41 (R451W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379873	NM_033549.5(TRIM41):c.1558G>A (p.Val520Met)	TRIM41 (V520M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375751	NM_033549.5(TRIM41):c.1703C>T (p.Thr568Met)	TRIM41 (T568M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373045	NM_033549.5(TRIM41):c.1375C>T (p.Arg459Trp)	TRIM41 (R459W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372206	NM_033549.5(TRIM41):c.1583C>T (p.Ser528Leu)	TRIM41 (S528L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365867	NM_033549.5(TRIM41):c.163G>A (p.Asp55Asn)	TRIM41 (D55N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354709	NM_033549.5(TRIM41):c.1267C>T (p.Arg423Trp)	TRIM41 (R423W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351668	NM_033549.5(TRIM41):c.998G>A (p.Arg333Gln)	TRIM41 (R333Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339185	NM_033549.5(TRIM41):c.874A>G (p.Lys292Glu)	TRIM41 (K292E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326712	NM_033549.5(TRIM41):c.1543C>T (p.Pro515Ser)	TRIM41 (P515S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2313741	NM_033549.5(TRIM41):c.1867G>A (p.Gly623Ser)	TRIM41 (G623S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309860	NM_033549.5(TRIM41):c.1718G>A (p.Ser573Asn)	TRIM41 (S573N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301382	NM_033549.5(TRIM41):c.1765C>T (p.Arg589Cys)	TRIM41 (R589C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261305	NM_033549.5(TRIM41):c.1604G>A (p.Arg535His)	TRIM41 (R535H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251479	NM_033549.5(TRIM41):c.1571A>T (p.Asp524Val)	TRIM41 (D524V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246235	NM_033549.5(TRIM41):c.997C>T (p.Arg333Trp)	TRIM41 (R333W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241024	NM_033549.5(TRIM41):c.1046C>A (p.Ala349Glu)	TRIM41 (A349E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217126	NM_033549.5(TRIM41):c.440G>A (p.Gly147Glu)	TRIM41 (G147E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1807832	GRCh37/hg19 5q35.3(chr5:180148276-180719789)x1	BTNL3, BTNL8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979542	GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3	TRIM7, RACK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 979539	GRCh37/hg19 5q35.3(chr5:180533007-180719789)x1	OR2V2, TRP-TGG3-1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 792027	NM_033549.5(TRIM41):c.516C>T (p.Pro172=)	TRIM41	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768057	NM_033549.5(TRIM41):c.185A>G (p.Glu62Gly)	TRIM41 (E62G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443257	GRCh37/hg19 5q35.3(chr5:180510829-180719789)x1	OR2V1, OR2V2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395650	GRCh37/hg19 5q35.3(chr5:180621186-180665840)x3	RACK1, TRIM41 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 153046	GRCh38/hg38 5q35.3(chr5:181125345-181238978)x3	LINC01962, LOC123575640 +49 more	Copy number gain	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 65