"GeneDx"[submitter] AND "TRIM71"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 3372147	NM_001039111.3(TRIM71):c.617A>G (p.Asn206Ser)	TRIM71 (N206S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429520	NM_001039111.3(TRIM71):c.1135G>A (p.Glu379Lys)	TRIM71 (E379K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504721	NM_001039111.3(TRIM71):c.1534C>G (p.His512Asp)	TRIM71 (H512D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803593	NM_001039111.3(TRIM71):c.1564_1577del (p.Asp522fs)	TRIM71 (D522fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1700296	NM_001039111.3(TRIM71):c.1906T>C (p.Cys636Arg)	TRIM71 (C636R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363842	NM_001039111.3(TRIM71):c.2374G>C (p.Gly792Arg)	TRIM71 (G792R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic
Select item 3361428	NM_001039111.3(TRIM71):c.508G>C (p.Ala170Pro)	TRIM71 (A170P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360746	NM_001039111.3(TRIM71):c.2323C>G (p.His775Asp)	TRIM71 (H775D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance