TRIM40[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 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
Select item 714621	NM_001286633.2(TRIM40):c.3G>A (p.Met1Ile)	TRIM40 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3182439	NM_001286633.2(TRIM40):c.32A>C (p.Glu11Ala)	TRIM40 (E11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182440	NM_001286633.2(TRIM40):c.37G>A (p.Val13Ile)	TRIM40 (V13I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182437	NM_001286633.2(TRIM40):c.104G>A (p.Arg35Gln)	TRIM40 (R35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335603	NM_001286633.2(TRIM40):c.190G>C (p.Val64Leu)	TRIM40 (V64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377850	NM_001286633.2(TRIM40):c.247G>A (p.Glu83Lys)	TRIM40 (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182438	NM_001286633.2(TRIM40):c.274G>A (p.Glu92Lys)	TRIM40 (E92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366949	NM_001286633.2(TRIM40):c.290C>T (p.Pro97Leu)	TRIM40 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328728	NM_001286633.2(TRIM40):c.359G>A (p.Arg120His)	TRIM40 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381075	NM_001286633.2(TRIM40):c.361C>T (p.Arg121Trp)	TRIM40 (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268944	NM_001286633.2(TRIM40):c.398A>G (p.Gln133Arg)	TRIM40 (Q133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182441	NM_001286633.2(TRIM40):c.422A>C (p.Lys141Thr)	TRIM40 (K141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362025	NM_001286633.2(TRIM40):c.539G>A (p.Gly180Asp)	TRIM40 (G151D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3328729	NM_001286633.2(TRIM40):c.617T>A (p.Val206Asp)	TRIM40 (V206D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366769	NM_001286633.2(TRIM40):c.640A>G (p.Lys214Glu)	TRIM40 (K185E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403537	NM_001286633.2(TRIM40):c.656A>G (p.Asn219Ser)	TRIM40 (N190S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 774645	NM_001286633.2(TRIM40):c.689+1G>T	TRIM40	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 1808143	GRCh37/hg19 6p22.1(chr6:29730504-30202199)x3	HCG17, HLA-A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	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)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 25