TMEM39A[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 3179451	NM_018266.3(TMEM39A):c.1294G>A (p.Val432Ile)	TMEM39A (V432I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342130	NM_018266.3(TMEM39A):c.1289G>A (p.Ser430Asn)	TMEM39A (S430N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179450	NM_018266.3(TMEM39A):c.1129A>G (p.Ile377Val)	TMEM39A (I377V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270425	NM_018266.3(TMEM39A):c.1052C>T (p.Ala351Val)	TMEM39A (A351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314283	NM_018266.3(TMEM39A):c.1018T>A (p.Ser340Thr)	TMEM39A (S340T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291716	NM_018266.3(TMEM39A):c.943A>G (p.Met315Val)	TMEM39A (M315V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327087	NM_018266.3(TMEM39A):c.811C>T (p.Arg271Cys)	TMEM39A (R271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346653	NM_018266.3(TMEM39A):c.778A>G (p.Thr260Ala)	TMEM39A (T260A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179453	NM_018266.3(TMEM39A):c.664G>A (p.Glu222Lys)	TMEM39A (E222K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495031	NM_018266.3(TMEM39A):c.655G>A (p.Val219Ile)	TMEM39A (V219I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219900	NM_018266.3(TMEM39A):c.650A>G (p.Tyr217Cys)	TMEM39A (Y217C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543241	NM_018266.3(TMEM39A):c.617G>A (p.Ser206Asn)	TMEM39A (S206N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383875	NM_018266.3(TMEM39A):c.554A>G (p.Asn185Ser)	TMEM39A (N185S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205299	NM_018266.3(TMEM39A):c.523G>A (p.Val175Ile)	TMEM39A (V175I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308193	NM_018266.3(TMEM39A):c.517A>G (p.Thr173Ala)	TMEM39A (T173A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179452	NM_018266.3(TMEM39A):c.268C>A (p.Gln90Lys)	TMEM39A (Q90K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312113	NM_018266.3(TMEM39A):c.259C>T (p.Leu87Phe)	TMEM39A (L87F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 34