TRABD2A[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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
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 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 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 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 3328386	NM_001277053.2(TRABD2A):c.1340T>C (p.Ile447Thr)	TRABD2A (I447T +1 more)	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 3328384	NM_001277053.2(TRABD2A):c.1274G>A (p.Arg425Gln)	TRABD2A (R425Q +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 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 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 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 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 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 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 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 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 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 2491252	NM_001277053.2(TRABD2A):c.547C>T (p.Arg183Cys)	TRABD2A (R183C)	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 3181736	NM_001277053.2(TRABD2A):c.484C>T (p.Arg162Cys)	TRABD2A (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328385	NM_001277053.2(TRABD2A):c.427C>T (p.Arg143Cys)	TRABD2A (R143C)	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 2473911	NM_001277053.2(TRABD2A):c.305G>C (p.Cys102Ser)	TRABD2A (C102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3328388	NM_001277053.2(TRABD2A):c.115G>A (p.Glu39Lys)	TRABD2A (E39K)	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 2488219	NM_001277053.2(TRABD2A):c.73G>A (p.Ala25Thr)	TRABD2A (A25T)	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

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Items: 47