TRIM7[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +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 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 153046	GRCh38/hg38 5q35.3(chr5:181125345-181238978)x3	LINC01962, LOC123575640 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2477881	NM_203293.3(TRIM7):c.1499T>C (p.Val500Ala)	TRIM7, TRIM7-AS2 (V318A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298293	NM_203293.3(TRIM7):c.1472A>G (p.Gln491Arg)	TRIM7, TRIM7-AS2 (Q309R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522404	NM_203293.3(TRIM7):c.1462G>A (p.Val488Ile)	TRIM7, TRIM7-AS2 (V280I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182780	NM_203293.3(TRIM7):c.1454C>T (p.Thr485Ile)	TRIM7, TRIM7-AS2 (T303I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467991	NM_203293.3(TRIM7):c.1418C>T (p.Ser473Phe)	TRIM7, TRIM7-AS2 (S265F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3328924	NM_203293.3(TRIM7):c.1382T>C (p.Val461Ala)	TRIM7, TRIM7-AS2 (V253A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182779	NM_203293.3(TRIM7):c.1360A>C (p.Ser454Arg)	TRIM7, TRIM7-AS2 (S246R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3328920	NM_203293.3(TRIM7):c.1348C>G (p.Arg450Gly)	TRIM7, TRIM7-AS2 (R450G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516522	NM_203293.3(TRIM7):c.1304T>A (p.Leu435Gln)	TRIM7, TRIM7-AS2 (L435Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2606271	NM_203293.3(TRIM7):c.1187G>C (p.Arg396Pro)	TRIM7, TRIM7-AS2 (R214P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182777	NM_203293.3(TRIM7):c.1112A>G (p.Gln371Arg)	TRIM7, TRIM7-AS2 (Q371R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3328925	NM_203293.3(TRIM7):c.1106G>T (p.Arg369Leu)	TRIM7, TRIM7-AS2 (R161L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528517	NM_203293.3(TRIM7):c.1106G>C (p.Arg369Pro)	TRIM7, TRIM7-AS2 (R161P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529534	NM_203293.3(TRIM7):c.1090G>T (p.Val364Leu)	TRIM7, TRIM7-AS2 (V156L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3182788	NM_203293.3(TRIM7):c.993C>A (p.Asp331Glu)	TRIM7 (D149E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316120	NM_203293.3(TRIM7):c.981G>T (p.Lys327Asn)	TRIM7 (K327N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182787	NM_203293.3(TRIM7):c.957T>G (p.Phe319Leu)	TRIM7 (F137L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328683	NM_203293.3(TRIM7):c.931G>C (p.Val311Leu)	TRIM7 (V103L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328922	NM_203293.3(TRIM7):c.902C>T (p.Thr301Ile)	TRIM7 (T301I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182786	NM_203293.3(TRIM7):c.816G>T (p.Glu272Asp)	TRIM7 (E64D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182785	NM_203293.3(TRIM7):c.757C>G (p.Leu253Val)	TRIM7 (L71V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280409	NM_203293.3(TRIM7):c.722T>A (p.Leu241Gln)	TRIM7 (L59Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328928	NM_203293.3(TRIM7):c.704T>A (p.Leu235Gln)	TRIM7 (L235Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385277	NM_203293.3(TRIM7):c.698G>A (p.Arg233Gln)	TRIM7 (R233Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182784	NM_203293.3(TRIM7):c.691G>A (p.Glu231Lys)	TRIM7 (E231K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454309	NM_203293.3(TRIM7):c.677T>C (p.Phe226Ser)	TRIM7 (F18S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328926	NM_203293.3(TRIM7):c.632C>G (p.Ala211Gly)	TRIM7 (A211G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182782	NM_203293.3(TRIM7):c.632C>A (p.Ala211Glu)	TRIM7 (A3E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328923	NM_203293.3(TRIM7):c.603G>C (p.Glu201Asp)	TRIM7 (E201D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351326	NM_203293.3(TRIM7):c.481C>G (p.His161Asp)	LOC129995496, TRIM7 (H161D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481459	NM_203293.3(TRIM7):c.460C>A (p.Arg154Ser)	LOC129995496, TRIM7 (R154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205449	NM_203293.3(TRIM7):c.388T>A (p.Cys130Ser)	LOC129995496, TRIM7 (C130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205448	NM_203293.3(TRIM7):c.376G>T (p.Ala126Ser)	LOC129995496, TRIM7 (A126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328929	NM_203293.3(TRIM7):c.345G>T (p.Glu115Asp)	LOC129995496, TRIM7 (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328921	NM_203293.3(TRIM7):c.325C>A (p.Pro109Thr)	LOC129995496, TRIM7 (P109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402529	NM_203293.3(TRIM7):c.302C>G (p.Thr101Arg)	LOC129995496, TRIM7 (T101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328927	NM_203293.3(TRIM7):c.301A>C (p.Thr101Pro)	LOC129995496, TRIM7 (T101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464179	NM_203293.3(TRIM7):c.278A>C (p.Asn93Thr)	LOC129995496, TRIM7 (N93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328930	NM_203293.3(TRIM7):c.260C>T (p.Pro87Leu)	LOC129995496, TRIM7 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294698	NM_203293.3(TRIM7):c.244C>T (p.Arg82Cys)	LOC129995496, TRIM7 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182781	NM_203293.3(TRIM7):c.236C>A (p.Pro79Gln)	LOC129995496, TRIM7 (P79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517593	NM_203293.3(TRIM7):c.218C>G (p.Pro73Arg)	LOC129995496, TRIM7 (P73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462087	NM_203293.3(TRIM7):c.197G>C (p.Gly66Ala)	TRIM7 (G66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182776	NM_203293.3(TRIM7):c.110G>T (p.Arg37Leu)	TRIM7 (R37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182783	NM_203293.3(TRIM7):c.64G>A (p.Glu22Lys)	TRIM7 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	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 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
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)	ABLIM3, ACOT12 +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	HRH2, HSD17B4 +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

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Items: 78