TRIM27[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 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 153490	GRCh38/hg38 6p22.1(chr6:28763187-29769828)x3	GABBR1, HCG14 +61 more	Copy number gain	See cases	GUncertain significance
Select item 3182330	NM_006510.5(TRIM27):c.1525A>G (p.Met509Val)	TRIM27 (M509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182329	NM_006510.5(TRIM27):c.1495T>C (p.Ser499Pro)	TRIM27 (S499P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217239	NM_006510.5(TRIM27):c.1485A>G (p.Ile495Met)	TRIM27 (I495M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281887	NM_006510.5(TRIM27):c.1202C>T (p.Ala401Val)	TRIM27 (A401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182328	NM_006510.5(TRIM27):c.1187G>C (p.Gly396Ala)	TRIM27 (G396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245002	NM_006510.5(TRIM27):c.1169A>T (p.Asp390Val)	TRIM27 (D390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458112	NM_006510.5(TRIM27):c.1135G>A (p.Asp379Asn)	TRIM27 (D379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280299	NM_006510.5(TRIM27):c.701C>T (p.Ala234Val)	TRIM27 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282426	NM_006510.5(TRIM27):c.647A>G (p.Asn216Ser)	TRIM27 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527066	NM_006510.5(TRIM27):c.473A>G (p.Lys158Arg)	TRIM27 (K158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182331	NM_006510.5(TRIM27):c.358C>G (p.Arg120Gly)	TRIM27 (R120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337223	NM_006510.5(TRIM27):c.304C>T (p.Pro102Ser)	TRIM27 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354962	NM_006510.5(TRIM27):c.247A>T (p.Thr83Ser)	TRIM27 (T83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365924	NM_006510.5(TRIM27):c.154T>C (p.Ser52Pro)	TRIM27 (S52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518465	NM_006510.5(TRIM27):c.62A>G (p.Gln21Arg)	TRIM27 (Q21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182332	NM_006510.5(TRIM27):c.35A>G (p.Gln12Arg)	TRIM27 (Q12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527231	GRCh37/hg19 6p22.1(chr6:28735761-29585573)	GABBR1, MAS1L +16 more	Copy number loss	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
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: 23