ClinVar for Gene (Select 6737) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328654	NM_003141.4(TRIM21):c.502A>G (p.Lys168Glu)	TRIM21 (K168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182279	NM_003141.4(TRIM21):c.895T>C (p.Trp299Arg)	LOC126861116, TRIM21 (W299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182278	NM_003141.4(TRIM21):c.850A>T (p.Thr284Ser)	LOC126861116, TRIM21 (T284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182277	NM_003141.4(TRIM21):c.849G>T (p.Arg283Ser)	LOC126861116, TRIM21 (R283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182276	NM_003141.4(TRIM21):c.79G>A (p.Val27Met)	TRIM21 (V27M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182275	NM_003141.4(TRIM21):c.370G>A (p.Ala124Thr)	TRIM21 (A124T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182273	NM_003141.4(TRIM21):c.1295C>T (p.Ser432Phe)	TRIM21 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182272	NM_003141.4(TRIM21):c.1099G>A (p.Gly367Arg)	TRIM21 (G367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684634	GRCh37/hg19 11p15.4(chr11:4376571-4623788)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2641530	NM_003141.4(TRIM21):c.1281C>T (p.Gly427=)	TRIM21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607807	NM_003141.4(TRIM21):c.955C>T (p.Pro319Ser)	LOC126861116, TRIM21 (P319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541074	NM_003141.4(TRIM21):c.479T>C (p.Ile160Thr)	TRIM21 (I160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533874	NM_003141.4(TRIM21):c.718G>A (p.Ala240Thr)	TRIM21 (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2495754	NM_003141.4(TRIM21):c.946C>A (p.Gln316Lys)	LOC126861116, TRIM21 (Q316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491166	NM_003141.4(TRIM21):c.1211C>T (p.Pro404Leu)	TRIM21 (P404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400932	NM_003141.4(TRIM21):c.272G>A (p.Arg91Gln)	TRIM21 (R91Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350393	NM_003141.4(TRIM21):c.916C>T (p.Arg306Trp)	LOC126861116, TRIM21 (R306W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300740	NM_003141.4(TRIM21):c.92G>T (p.Cys31Phe)	TRIM21 (C31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283829	NM_003141.4(TRIM21):c.275G>A (p.Cys92Tyr)	TRIM21 (C92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281478	NM_003141.4(TRIM21):c.880G>A (p.Asp294Asn)	LOC126861116, TRIM21 (D294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232210	NM_003141.4(TRIM21):c.1090C>T (p.Arg364Cys)	TRIM21 (R364C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222454	NM_003141.4(TRIM21):c.743T>C (p.Ile248Thr)	TRIM21 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1807596	GRCh37/hg19 11p15.4(chr11:4384773-4681230)x3	C11orf40, OR51D1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980414	GRCh37/hg19 11p15.4(chr11:4238630-4460261)x4	TRIM21, OR52B4	Copy number gain	not provided	GUncertain significance
Select item 980412	GRCh37/hg19 11p15.4(chr11:4388904-4639840)x3	C11orf40, OR52B4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 782540	NM_003141.4(TRIM21):c.454T>C (p.Leu152=)	TRIM21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781807	NM_003141.4(TRIM21):c.1086T>C (p.Ser362=)	TRIM21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 442143	GRCh37/hg19 11p15.4(chr11:4364896-4926365)x3	C11orf40, OR51D1 +15 more	Copy number gain	See cases	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 402124	GRCh37/hg19 11p15.4(chr11:4387760-4840438)x3	C11orf40, OR51D1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 226252	GRCh37/hg19 11p15.4(chr11:4371631-5253127)	OR51G2, OR51L1 +28 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 152227	GRCh38/hg38 11p15.4(chr11:4304835-4510624)x1	LOC126861116, LOC126861117 +10 more	Copy number loss	See cases	GUncertain significance
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 55