TMEM45A[gene] - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 3179505	NM_018004.3(TMEM45A):c.35C>A (p.Thr12Asn)	TMEM45A (T12N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233627	NM_018004.3(TMEM45A):c.63G>C (p.Trp21Cys)	TMEM45A (W37C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607668	NM_018004.3(TMEM45A):c.73A>T (p.Ser25Cys)	TMEM45A (S25C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616206	NM_018004.3(TMEM45A):c.182C>A (p.Ala61Asp)	TMEM45A (A77D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464023	NM_018004.3(TMEM45A):c.439A>G (p.Met147Val)	TMEM45A (M147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365443	NM_018004.3(TMEM45A):c.478G>A (p.Val160Ile)	TMEM45A (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493243	NM_018004.3(TMEM45A):c.548G>T (p.Arg183Leu)	TMEM45A (R183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550047	NM_018004.3(TMEM45A):c.619G>A (p.Gly207Ser)	TMEM45A (G207S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294633	NM_018004.3(TMEM45A):c.647A>C (p.Glu216Ala)	TMEM45A (E216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179506	NM_018004.3(TMEM45A):c.695C>A (p.Thr232Asn)	TMEM45A (T232N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539142	NM_018004.3(TMEM45A):c.706G>A (p.Val236Ile)	TMEM45A (V236I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568485	NM_018004.3(TMEM45A):c.745T>G (p.Ser249Ala)	TMEM45A (S249A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179507	NM_018004.3(TMEM45A):c.782T>G (p.Leu261Arg)	TMEM45A (L261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179508	NM_018004.3(TMEM45A):c.800G>A (p.Arg267Gln)	TMEM45A (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619959	NM_018004.3(TMEM45A):c.805C>A (p.Gln269Lys)	TMEM45A (Q285K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 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: 25