ClinVar for Gene (Select 129293) - ClinVar

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

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181741	NM_001277053.2(TRABD2A):c.1054C>T (p.His352Tyr)	TRABD2A (H303Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181740	NM_001277053.2(TRABD2A):c.893G>A (p.Arg298Gln)	TRABD2A (R249Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181739	NM_001277053.2(TRABD2A):c.839C>T (p.Thr280Met)	TRABD2A (T280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181738	NM_001277053.2(TRABD2A):c.651T>G (p.Asn217Lys)	TRABD2A (N217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181737	NM_001277053.2(TRABD2A):c.589G>A (p.Glu197Lys)	TRABD2A (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181736	NM_001277053.2(TRABD2A):c.484C>T (p.Arg162Cys)	TRABD2A (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181735	NM_001277053.2(TRABD2A):c.365G>A (p.Arg122His)	TRABD2A (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181734	NM_001277053.2(TRABD2A):c.325G>A (p.Glu109Lys)	TRABD2A (E109K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181733	NM_001277053.2(TRABD2A):c.179A>G (p.His60Arg)	TRABD2A (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181732	NM_001277053.2(TRABD2A):c.143A>G (p.Lys48Arg)	TRABD2A (K48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621632	NM_001277053.2(TRABD2A):c.988G>A (p.Ala330Thr)	TRABD2A (A330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596528	NM_001277053.2(TRABD2A):c.1406G>A (p.Arg469His)	TRABD2A (R420H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589878	NM_001277053.2(TRABD2A):c.1415C>T (p.Ser472Phe)	TRABD2A (S472F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552923	NM_001277053.2(TRABD2A):c.1408G>C (p.Gly470Arg)	TRABD2A (G421R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491296	NM_001277053.2(TRABD2A):c.937A>G (p.Lys313Glu)	TRABD2A (K264E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491252	NM_001277053.2(TRABD2A):c.547C>T (p.Arg183Cys)	TRABD2A (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488219	NM_001277053.2(TRABD2A):c.73G>A (p.Ala25Thr)	TRABD2A (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473911	NM_001277053.2(TRABD2A):c.305G>C (p.Cys102Ser)	TRABD2A (C102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461183	NM_001277053.2(TRABD2A):c.492G>C (p.Arg164Ser)	TRABD2A (R164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386781	NM_001277053.2(TRABD2A):c.889C>T (p.Arg297Cys)	TRABD2A (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385973	NM_001277053.2(TRABD2A):c.1057G>A (p.Ala353Thr)	TRABD2A (A353T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382995	NM_001277053.2(TRABD2A):c.931C>T (p.Arg311Trp)	TRABD2A (R311W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364012	NM_001277053.2(TRABD2A):c.1394G>A (p.Arg465Gln)	TRABD2A (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293399	NM_001277053.2(TRABD2A):c.272C>T (p.Thr91Ile)	TRABD2A (T91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281702	NM_001277053.2(TRABD2A):c.1309G>A (p.Asp437Asn)	TRABD2A (D437N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240217	NM_001277053.2(TRABD2A):c.1246G>C (p.Glu416Gln)	TRABD2A (E416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239688	NM_001277053.2(TRABD2A):c.80G>A (p.Gly27Asp)	TRABD2A (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230620	NM_001277053.2(TRABD2A):c.1204C>G (p.Leu402Val)	TRABD2A (L402V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222498	NM_001277053.2(TRABD2A):c.1508C>A (p.Pro503His)	TRABD2A (P454H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 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

Links from Gene

Items: 43