TRAM2[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	ADGRF1, ADGRF2 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 2311171	NM_012288.4(TRAM2):c.1085C>T (p.Pro362Leu)	TRAM2 (P362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559853	NM_012288.4(TRAM2):c.1057G>A (p.Val353Met)	TRAM2 (V353M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508594	NM_012288.4(TRAM2):c.904G>A (p.Ala302Thr)	LOC126859692, TRAM2 (A302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383520	NM_012288.4(TRAM2):c.790G>A (p.Val264Met)	TRAM2 (V264M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340051	GRCh37/hg19 6p12.2(chr6:52238224-52541279)x3	EFHC1, PAQR8 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	GSTA4, CILK1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 916002	GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)	EFHC1, IL17A +7 more	Copy number loss	Autosomal recessive polycystic kidney disease	GPathogenic
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic