TRAM2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +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)	not specified	GUncertain significance
Select item 3328466	NM_012288.4(TRAM2):c.1079C>T (p.Thr360Ile)	TRAM2 (T360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559853	NM_012288.4(TRAM2):c.1057G>A (p.Val353Met)	TRAM2 (V353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181853	NM_012288.4(TRAM2):c.1013C>T (p.Pro338Leu)	LOC126859692, TRAM2 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328468	NM_012288.4(TRAM2):c.926G>A (p.Arg309His)	LOC126859692, TRAM2 (R309H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181859	NM_012288.4(TRAM2):c.925C>T (p.Arg309Cys)	LOC126859692, TRAM2 (R309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508594	NM_012288.4(TRAM2):c.904G>A (p.Ala302Thr)	LOC126859692, TRAM2 (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328475	NM_012288.4(TRAM2):c.832G>T (p.Ala278Ser)	TRAM2 (A278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181857	NM_012288.4(TRAM2):c.799A>G (p.Ile267Val)	TRAM2 (I267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181856	NM_012288.4(TRAM2):c.790G>C (p.Val264Leu)	TRAM2 (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383520	NM_012288.4(TRAM2):c.790G>A (p.Val264Met)	TRAM2 (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328474	NM_012288.4(TRAM2):c.668C>T (p.Ser223Leu)	TRAM2 (S223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328469	NM_012288.4(TRAM2):c.663G>T (p.Gln221His)	TRAM2 (Q221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328472	NM_012288.4(TRAM2):c.647T>G (p.Ile216Ser)	TRAM2 (I216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181854	NM_012288.4(TRAM2):c.635G>A (p.Arg212His)	TRAM2 (R212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328473	NM_012288.4(TRAM2):c.364G>A (p.Val122Ile)	TRAM2 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328467	NM_012288.4(TRAM2):c.253A>G (p.Thr85Ala)	TRAM2 (T85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328470	NM_012288.4(TRAM2):c.244A>G (p.Ile82Val)	TRAM2 (I82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181855	NM_012288.4(TRAM2):c.68C>T (p.Ala23Val)	LOC129996635, TRAM2 (A23V)	Single nucleotide variant (missense variant)	not specified	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	CILK1, EFHC1 +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)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32