ClinVar for Gene (Select 56658) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182426	NM_001199119.1(TRIM39-RPP21):c.1031G>A (p.Arg344Lys)	TRIM39, TRIM39-RPP21 (R374K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182425	NM_001369521.2(TRIM39):c.804-172C>T	LOC126859643, TRIM39 +1 more (L289F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3182424	NM_001369521.2(TRIM39):c.1288A>G (p.Ile430Val)	TRIM39, TRIM39-RPP21 (I460V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593543	NM_001369521.2(TRIM39):c.804-232A>C	TRIM39, TRIM39-RPP21 (N269H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535979	NM_001369521.2(TRIM39):c.1150G>A (p.Val384Met)	TRIM39, TRIM39-RPP21 (V384M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339535	NM_001369521.2(TRIM39):c.804-187C>T	LOC126859643, TRIM39 +1 more (R284W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317468	NM_001369521.2(TRIM39):c.1340G>A (p.Arg447His)	TRIM39, TRIM39-RPP21 (R447H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293761	NM_001369521.2(TRIM39):c.804-226C>T	TRIM39, TRIM39-RPP21 (P271S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2284796	NM_001369521.2(TRIM39):c.1441A>G (p.Ile481Val)	TRIM39, TRIM39-RPP21 (I481V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic